Podcasts about Human genetics

Cystic Fibrosis and obesity?  Until recently this has not been a topic of conversation for the CF community. The reason for obesity in the CF community is better health and longer lives, so the concern is now a reality.  University of Michigan CF doctor, Carey Lumeng is researching the issue.  As he says in this podcast, researchers have a lot to learn about the connection between better health in CF and obesity.  We also talk about The Bonnell Foundation fellowship program. A few years ago we started the program to encourage doctors to work in the specialty field of cystic fibrosis. Dr. Lumeng is one of the doctors who oversees this program.Dr. Lumeng is the Frederick G.L. Huetwell Professor for the Cure and Prevention of Birth Defects and Professor in Pediatrics and Molecular and Integrative Physiology. Dr. Lumeng is the Division Chief of Pediatric Pulmonology at the C.S. Mott Children's Hospital and Associate Director of the Michigan MSTP Program.He grew up in Indiana and graduated from Princeton University in Molecular Biology. He received his PhD in Human Genetics and MD from the University of Michigan and completed residency training in Pediatrics in the Boston Combined Pediatrics Residency Program at Boston Children's Hospital and Boston Medical Center. He then completed fellowship training in Pediatric Pulmonology at the University of Michigan and started as faculty in 2006.  He runs a research lab focused on the health effects of obesity and the links between metabolism and lung health. The laboratory participates in both basic science and translational research projects in adult and pediatric obesity. He is funded by the NIH and the CF Foundation for new projects studying the changing causes of diabetes in people with CF.To contact the CF pediatric department (the Bonnell girls are pictured on this page): https://www.mottchildren.org/conditions-treatments/cystic-fibrosis-pediatric?pk_vid=6ff46bd2d38fe04c1739891353f5b28b Please like, subscribe, and comment on our podcasts!Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website:https://thebonnellfoundation.orgEmail us at: thebonnellfoundation@gmail.com Watch our podcasts on YouTube: https://www.youtube.com/@laurabonnell1136/featuredThanks to our sponsors:Vertex: https://www.vrtx.comViatris: https://www.viatris.com/en

Title: Journal Club Series Episode 12- Regression (eg, linear, logistic, survival analysis) Target Audience This activity is directed to physicians, medical students, nurse practitioners, nurses, and physician assistants. Objectives: Upon completion of this activity, participants should be able to: •      Describe the concept of regression. •      Differentiate between linear and logistic regression. •      Interpret survival analysis.  Course Directors: Tony R. Tarchichi MD — Associate Professor, Department of Pediatrics, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center (UPMC.) Paul C. Gaffney Division of Pediatric Hospital Medicine. No relationships with industry relevant to the content of this educational activity have been disclosed. Jenna Carlson Ph.D — Assistant Professor of Human Genetics and Biostatistics, University of Pittsburgh No relationships with industry relevant to the content of this educational activity have been disclosed. Conflict of Interest Disclosure: No other planners, members of the planning committee, speakers, presenters, authors, content reviewers and/or anyone else in a position to control the content of this education activity have relevant financial relationships to disclose. Accreditation Statement: In support of improving patient care, the University of Pittsburgh is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. The University of Pittsburgh School of Medicine designates this enduring material activity for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should only claim credit commensurate with the extent of their participation in the activity. Other health care professionals will receive a certificate of attendance confirming the number of contact hours commensurate with the extent of participation in this activity.   Disclaimer Statement: The information presented at this activity represents the views and opinions of the individual presenters, and does not constitute the opinion or endorsement of, or promotion by, the UPMC Center for Continuing Education in the Health Sciences, UPMC / University of Pittsburgh Medical Center or Affiliates and University of Pittsburgh School of Medicine.  Reasonable efforts have been taken intending for educational subject matter to be presented in a balanced, unbiased fashion and in compliance with regulatory requirements. However, each program attendee must always use his/her own personal and professional judgment when considering further application of this information, particularly as it may relate to patient diagnostic or treatment decisions including, without limitation, FDA-approved uses and any off-label uses. Released 4/15/2025,  Expires 4/15/2028 The direct link to the course is provided below: https://cme.hs.pitt.edu/ISER/app/learner/loadModule?moduleId=25795&dev=true

Dr Matthew Wilson, Postdoctoral Fellow at the Centre for Human Genetics, KU Leuven, joins hosts Silvia Radenkovic and Rodrigo Starosta to discuss a scintillating selection of CDG papers in our first ever research round-up. The papers discussed include: A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis. Wilson et al Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology. Ng et al Rft1 catalyzes lipid-linked oligosaccharide translocation across the ER membrane. Chen et al Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG. Hirata et al Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing. Morales-Romero et al N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts. Garapati et al In vitro treatment with liposome-encapsulated Mannose-1-phosphate restores N-glycosylation in PMM2-CDG patient-derived fibroblasts. Shirakura et al Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation. Budhraja et al D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG). Starosta et al Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes. Baerenfaenger et al Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models. Radenkovic et al

Listen in as Real Science Radio host Fred Williams and co-host Doug McBurney review and update some of Bob Enyart's legendary list of not so old things! From Darwin's Finches to opals forming in months to man's genetic diversity in 200 generations, to carbon 14 everywhere it's not supposed to be (including in diamonds and dinosaur bones!), scientific observations simply defy the claim that the earth is billions of years old. Real science demands the dismissal of the alleged million and billion year ages asserted by the ungodly and the foolish.     * Finches Adapt in 17 Years, Not 2.3 Million: Charles Darwin's finches are claimed to have taken 2,300,000 years to diversify from an initial species blown onto the Galapagos Islands. Yet individuals from a single finch species on a U.S. Bird Reservation in the Pacific were introduced to a group of small islands 300 miles away and in at most 17 years, like Darwin's finches, they had diversified their beaks, related muscles, and behavior to fill various ecological niches. Hear about this also at rsr.org/spetner.  * Finches Speciate in Two Generations vs Two Million Years for Darwin's Birds?  Darwin's finches on the Galapagos Islands are said to have diversified into 14 species over a period of two million years. But in 2017 the journal Science reported a newcomer to the Island which within two generations spawned a reproductively isolated new species. In another instance as documented by Lee Spetner, a hundred birds of the same finch species introduced to an island cluster a 1,000 kilometers from Galapagos diversified into species with the typical variations in beak sizes, etc. "If this diversification occurred in less than seventeen years," Dr. Spetner asks, "why did Darwin's Galapagos finches [as claimed by evolutionists] have to take two million years?" * Opals Can Form in "A Few Months" And Don't Need 100,000 Years: A leading authority on opals, Allan W. Eckert, observed that, "scientific papers and textbooks have told that the process of opal formation requires tens of thousands of years, perhaps hundreds of thousands... Not true." A 2011 peer-reviewed paper in a geology journal from Australia, where almost all the world's opal is found, reported on the: "new timetable for opal formation involving weeks to a few months and not the hundreds of thousands of years envisaged by the conventional weathering model." (And apparently, per a 2019 report from Entomology Today, opals can even form around insects!) More knowledgeable scientists resist the uncritical, group-think insistence on false super-slow formation rates (as also for manganese nodules, gold veins, stone, petroleum, canyons and gullies, and even guts, all below). Regarding opals, Darwinian bias led geologists to long ignore possible quick action, as from microbes, as a possible explanation for these mineraloids. For both in nature and in the lab, opals form rapidly, not even in 10,000 years, but in weeks. See this also from creationists by a geologist, a paleobiochemist, and a nuclear chemist. * Blue Eyes Originated Not So Long Ago: Not a million years ago, nor a hundred thousand years ago, but based on a peer-reviewed paper in Human Genetics, a press release at Science Daily reports that, "research shows that people with blue eyes have a single, common ancestor. A team at the University of Copenhagen have tracked down a genetic mutation which took place 6-10,000 years ago and is the cause of the eye color of all blue-eyed humans alive on the planet today." * Adding the Entire Universe to our List of Not So Old Things? Based on March 2019 findings from Hubble, Nobel laureate Adam Riess of the Space Telescope Science Institute and his co-authors in the Astrophysical Journal estimate that the universe is about a billion years younger than previously thought! Then in September 2019 in the journal Science, the age dropped precipitously to as low as 11.4 billion years! Of course, these measurements also further squeeze the canonical story of the big bang chronology with its many already existing problems including the insufficient time to "evolve" distant mature galaxies, galaxy clusters, superclusters, enormous black holes, filaments, bubbles, walls, and other superstructures. So, even though the latest estimates are still absurdly too old (Google: big bang predictions, and click on the #1 ranked article, or just go on over there to rsr.org/bb), regardless, we thought we'd plop the whole universe down on our List of Not So Old Things!   * After the Soft Tissue Discoveries, NOW Dino DNA: When a North Carolina State University paleontologist took the Tyrannosaurus Rex photos to the right of original biological material, that led to the 2016 discovery of dinosaur DNA, So far researchers have also recovered dinosaur blood vessels, collagen, osteocytes, hemoglobin, red blood cells, and various proteins. As of May 2018, twenty-six scientific journals, including Nature, Science, PNAS, PLoS One, Bone, and Journal of Vertebrate Paleontology, have confirmed the discovery of biomaterial fossils from many dinosaurs! Organisms including T. Rex, hadrosaur, titanosaur, triceratops, Lufengosaur, mosasaur, and Archaeopteryx, and many others dated, allegedly, even hundreds of millions of years old, have yielded their endogenous, still-soft biological material. See the web's most complete listing of 100+ journal papers (screenshot, left) announcing these discoveries at bflist.rsr.org and see it in layman's terms at rsr.org/soft. * Rapid Stalactites, Stalagmites, Etc.: A construction worker in 1954 left a lemonade bottle in one of Australia's famous Jenolan Caves. By 2011 it had been naturally transformed into a stalagmite (below, right). Increasing scientific knowledge is arguing for rapid cave formation (see below, Nat'l Park Service shrinks Carlsbad Caverns formation estimates from 260M years, to 10M, to 2M, to it "depends"). Likewise, examples are growing of rapid formations with typical chemical make-up (see bottle, left) of classic stalactites and stalagmites including: - in Nat'l Geo the Carlsbad Caverns stalagmite that rapidly covered a bat - the tunnel stalagmites at Tennessee's Raccoon Mountain - hundreds of stalactites beneath the Lincoln Memorial - those near Gladfelter Hall at Philadelphia's Temple University (send photos to Bob@rsr.org) - hundreds of stalactites at Australia's zinc mine at Mt. Isa.   - and those beneath Melbourne's Shrine of Remembrance. * Most Human Mutations Arose in 200 Generations: From Adam until Real Science Radio, in only 200 generations! The journal Nature reports The Recent Origin of Most Human Protein-coding Variants. As summarized by geneticist co-author Joshua Akey, "Most of the mutations that we found arose in the last 200 generations or so" (the same number previously published by biblical creationists). Another 2012 paper, in the American Journal of Physical Anthropology (Eugenie Scott's own field) on High mitochondrial mutation rates, shows that one mitochondrial DNA mutation occurs every other generation, which, as creationists point out, indicates that mtEve would have lived about 200 generations ago. That's not so old! * National Geographic's Not-So-Old Hard-Rock Canyon at Mount St. Helens: As our List of Not So Old Things (this web page) reveals, by a kneejerk reaction evolutionary scientists assign ages of tens or hundreds of thousands of years (or at least just long enough to contradict Moses' chronology in Genesis.) However, with closer study, routinely, more and more old ages get revised downward to fit the world's growing scientific knowledge. So the trend is not that more information lengthens ages, but rather, as data replaces guesswork, ages tend to shrink until they are consistent with the young-earth biblical timeframe. Consistent with this observation, the May 2000 issue of National Geographic quotes the U.S. Forest Service's scientist at Mount St. Helens, Peter Frenzen, describing the canyon on the north side of the volcano. "You'd expect a hard-rock canyon to be thousands, even hundreds of thousands of years old. But this was cut in less than a decade." And as for the volcano itself, while again, the kneejerk reaction of old-earthers would be to claim that most geologic features are hundreds of thousands or millions of years old, the atheistic National Geographic magazine acknowledges from the evidence that Mount St. Helens, the volcanic mount, is only about 4,000 years old! See below and more at rsr.org/mount-st-helens. * Mount St. Helens Dome Ten Years Old not 1.7 Million: Geochron Laboratories of Cambridge, Mass., using potassium-argon and other radiometric techniques claims the rock sample they dated, from the volcano's dome, solidified somewhere between 340,000 and 2.8 million years ago. However photographic evidence and historical reports document the dome's formation during the 1980s, just ten years prior to the samples being collected. With the age of this rock known, radiometric dating therefore gets the age 99.99999% wrong. * Devils Hole Pupfish Isolated Not for 13,000 Years But for 100: Secular scientists default to knee-jerk, older-than-Bible-age dates. However, a tiny Mojave desert fish is having none of it. Rather than having been genetically isolated from other fish for 13,000 years (which would make this small school of fish older than the Earth itself), according to a paper in the journal Nature, actual measurements of mutation rates indicate that the genetic diversity of these Pupfish could have been generated in about 100 years, give or take a few. * Polystrates like Spines and Rare Schools of Fossilized Jellyfish: Previously, seven sedimentary layers in Wisconsin had been described as taking a million years to form. And because jellyfish have no skeleton, as Charles Darwin pointed out, it is rare to find them among fossils. But now, reported in the journal Geology, a school of jellyfish fossils have been found throughout those same seven layers. So, polystrate fossils that condense the time of strata deposition from eons to hours or months, include: - Jellyfish in central Wisconsin were not deposited and fossilized over a million years but during a single event quick enough to trap a whole school. (This fossil school, therefore, taken as a unit forms a polystrate fossil.) Examples are everywhere that falsify the claims of strata deposition over millions of years. - Countless trilobites buried in astounding three dimensionality around the world are meticulously recovered from limestone, much of which is claimed to have been deposited very slowly. Contrariwise, because these specimens were buried rapidly in quickly laid down sediments, they show no evidence of greater erosion on their upper parts as compared to their lower parts. - The delicacy of radiating spine polystrates, like tadpole and jellyfish fossils, especially clearly demonstrate the rapidity of such strata deposition. - A second school of jellyfish, even though they rarely fossilized, exists in another locale with jellyfish fossils in multiple layers, in Australia's Brockman Iron Formation, constraining there too the rate of strata deposition. By the way, jellyfish are an example of evolution's big squeeze. Like galaxies evolving too quickly, 

Listen in as Real Science Radio host Fred Williams and co-host Doug McBurney review and update some of Bob Enyart's legendary list of not so old things! From Darwin's Finches to opals forming in months to man's genetic diversity in 200 generations, to carbon 14 everywhere it's not supposed to be (including in diamonds and dinosaur bones!), scientific observations simply defy the claim that the earth is billions of years old. Real science demands the dismissal of the alleged million and billion year ages asserted by the ungodly and the foolish.   * Finches Adapt in 17 Years, Not 2.3 Million: Charles Darwin's finches are claimed to have taken 2,300,000 years to diversify from an initial species blown onto the Galapagos Islands. Yet individuals from a single finch species on a U.S. Bird Reservation in the Pacific were introduced to a group of small islands 300 miles away and in at most 17 years, like Darwin's finches, they had diversified their beaks, related muscles, and behavior to fill various ecological niches. Hear about this also at rsr.org/spetner.  * Finches Speciate in Two Generations vs Two Million Years for Darwin's Birds?  Darwin's finches on the Galapagos Islands are said to have diversified into 14 species over a period of two million years. But in 2017 the journal Science reported a newcomer to the Island which within two generations spawned a reproductively isolated new species. In another instance as documented by Lee Spetner, a hundred birds of the same finch species introduced to an island cluster a 1,000 kilometers from Galapagos diversified into species with the typical variations in beak sizes, etc. "If this diversification occurred in less than seventeen years," Dr. Spetner asks, "why did Darwin's Galapagos finches [as claimed by evolutionists] have to take two million years?" * Opals Can Form in "A Few Months" And Don't Need 100,000 Years: A leading authority on opals, Allan W. Eckert, observed that, "scientific papers and textbooks have told that the process of opal formation requires tens of thousands of years, perhaps hundreds of thousands... Not true." A 2011 peer-reviewed paper in a geology journal from Australia, where almost all the world's opal is found, reported on the: "new timetable for opal formation involving weeks to a few months and not the hundreds of thousands of years envisaged by the conventional weathering model." (And apparently, per a 2019 report from Entomology Today, opals can even form around insects!) More knowledgeable scientists resist the uncritical, group-think insistence on false super-slow formation rates (as also for manganese nodules, gold veins, stone, petroleum, canyons and gullies, and even guts, all below). Regarding opals, Darwinian bias led geologists to long ignore possible quick action, as from microbes, as a possible explanation for these mineraloids. For both in nature and in the lab, opals form rapidly, not even in 10,000 years, but in weeks. See this also from creationists by a geologist, a paleobiochemist, and a nuclear chemist. * Blue Eyes Originated Not So Long Ago: Not a million years ago, nor a hundred thousand years ago, but based on a peer-reviewed paper in Human Genetics, a press release at Science Daily reports that, "research shows that people with blue eyes have a single, common ancestor. A team at the University of Copenhagen have tracked down a genetic mutation which took place 6-10,000 years ago and is the cause of the eye color of all blue-eyed humans alive on the planet today." * Adding the Entire Universe to our List of Not So Old Things? Based on March 2019 findings from Hubble, Nobel laureate Adam Riess of the Space Telescope Science Institute and his co-authors in the Astrophysical Journal estimate that the universe is about a billion years younger than previously thought! Then in September 2019 in the journal Science, the age dropped precipitously to as low as 11.4 billion years! Of course, these measurements also further squeeze the canonical story of the big bang chronology with its many already existing problems including the insufficient time to "evolve" distant mature galaxies, galaxy clusters, superclusters, enormous black holes, filaments, bubbles, walls, and other superstructures. So, even though the latest estimates are still absurdly too old (Google: big bang predictions, and click on the #1 ranked article, or just go on over there to rsr.org/bb), regardless, we thought we'd plop the whole universe down on our List of Not So Old Things!   * After the Soft Tissue Discoveries, NOW Dino DNA: When a North Carolina State University paleontologist took the Tyrannosaurus Rex photos to the right of original biological material, that led to the 2016 discovery of dinosaur DNA, So far researchers have also recovered dinosaur blood vessels, collagen, osteocytes, hemoglobin, red blood cells, and various proteins. As of May 2018, twenty-six scientific journals, including Nature, Science, PNAS, PLoS One, Bone, and Journal of Vertebrate Paleontology, have confirmed the discovery of biomaterial fossils from many dinosaurs! Organisms including T. Rex, hadrosaur, titanosaur, triceratops, Lufengosaur, mosasaur, and Archaeopteryx, and many others dated, allegedly, even hundreds of millions of years old, have yielded their endogenous, still-soft biological material. See the web's most complete listing of 100+ journal papers (screenshot, left) announcing these discoveries at bflist.rsr.org and see it in layman's terms at rsr.org/soft. * Rapid Stalactites, Stalagmites, Etc.: A construction worker in 1954 left a lemonade bottle in one of Australia's famous Jenolan Caves. By 2011 it had been naturally transformed into a stalagmite (below, right). Increasing scientific knowledge is arguing for rapid cave formation (see below, Nat'l Park Service shrinks Carlsbad Caverns formation estimates from 260M years, to 10M, to 2M, to it "depends"). Likewise, examples are growing of rapid formations with typical chemical make-up (see bottle, left) of classic stalactites and stalagmites including: - in Nat'l Geo the Carlsbad Caverns stalagmite that rapidly covered a bat - the tunnel stalagmites at Tennessee's Raccoon Mountain - hundreds of stalactites beneath the Lincoln Memorial - those near Gladfelter Hall at Philadelphia's Temple University (send photos to Bob@rsr.org) - hundreds of stalactites at Australia's zinc mine at Mt. Isa.   - and those beneath Melbourne's Shrine of Remembrance. * Most Human Mutations Arose in 200 Generations: From Adam until Real Science Radio, in only 200 generations! The journal Nature reports The Recent Origin of Most Human Protein-coding Variants. As summarized by geneticist co-author Joshua Akey, "Most of the mutations that we found arose in the last 200 generations or so" (the same number previously published by biblical creationists). Another 2012 paper, in the American Journal of Physical Anthropology (Eugenie Scott's own field) on High mitochondrial mutation rates, shows that one mitochondrial DNA mutation occurs every other generation, which, as creationists point out, indicates that mtEve would have lived about 200 generations ago. That's not so old! * National Geographic's Not-So-Old Hard-Rock Canyon at Mount St. Helens: As our List of Not So Old Things (this web page) reveals, by a kneejerk reaction evolutionary scientists assign ages of tens or hundreds of thousands of years (or at least just long enough to contradict Moses' chronology in Genesis.) However, with closer study, routinely, more and more old ages get revised downward to fit the world's growing scientific knowledge. So the trend is not that more information lengthens ages, but rather, as data replaces guesswork, ages tend to shrink until they are consistent with the young-earth biblical timeframe. Consistent with this observation, the May 2000 issue of National Geographic quotes the U.S. Forest Service's scientist at Mount St. Helens, Peter Frenzen, describing the canyon on the north side of the volcano. "You'd expect a hard-rock canyon to be thousands, even hundreds of thousands of years old. But this was cut in less than a decade." And as for the volcano itself, while again, the kneejerk reaction of old-earthers would be to claim that most geologic features are hundreds of thousands or millions of years old, the atheistic National Geographic magazine acknowledges from the evidence that Mount St. Helens, the volcanic mount, is only about 4,000 years old! See below and more at rsr.org/mount-st-helens. * Mount St. Helens Dome Ten Years Old not 1.7 Million: Geochron Laboratories of Cambridge, Mass., using potassium-argon and other radiometric techniques claims the rock sample they dated, from the volcano's dome, solidified somewhere between 340,000 and 2.8 million years ago. However photographic evidence and historical reports document the dome's formation during the 1980s, just ten years prior to the samples being collected. With the age of this rock known, radiometric dating therefore gets the age 99.99999% wrong. * Devils Hole Pupfish Isolated Not for 13,000 Years But for 100: Secular scientists default to knee-jerk, older-than-Bible-age dates. However, a tiny Mojave desert fish is having none of it. Rather than having been genetically isolated from other fish for 13,000 years (which would make this small school of fish older than the Earth itself), according to a paper in the journal Nature, actual measurements of mutation rates indicate that the genetic diversity of these Pupfish could have been generated in about 100 years, give or take a few. * Polystrates like Spines and Rare Schools of Fossilized Jellyfish: Previously, seven sedimentary layers in Wisconsin had been described as taking a million years to form. And because jellyfish have no skeleton, as Charles Darwin pointed out, it is rare to find them among fossils. But now, reported in the journal Geology, a school of jellyfish fossils have been found throughout those same seven layers. So, polystrate fossils that condense the time of strata deposition from eons to hours or months, include: - Jellyfish in central Wisconsin were not deposited and fossilized over a million years but during a single event quick enough to trap a whole school. (This fossil school, therefore, taken as a unit forms a polystrate fossil.) Examples are everywhere that falsify the claims of strata deposition over millions of years. - Countless trilobites buried in astounding three dimensionality around the world are meticulously recovered from limestone, much of which is claimed to have been deposited very slowly. Contrariwise, because these specimens were buried rapidly in quickly laid down sediments, they show no evidence of greater erosion on their upper parts as compared to their lower parts. - The delicacy of radiating spine polystrates, like tadpole and jellyfish fossils, especially clearly demonstrate the rapidity of such strata deposition. - A second school of jellyfish, even though they rarely fossilized, exists in another locale with jellyfish fossils in multiple layers, in Australia's Brockman Iron Formation, constraining there too the rate of strata deposition. By the way, jellyfish are an example of evolution's big squeeze. Like galaxies e

An interesting new study from the Geisinger health system in Pennsylvania examining if genomic screening in a large population increases the identification of disease risk prompted Raise the Line to re-release a previous episode about a textbook designed to help all medical providers understand the clinical applications of genomic testing. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling from Elsevier Science Direct dives into the use of this important tool in diagnosis and screening, indicating how individuals may respond to drug therapies, and more. “We really need to educate all healthcare providers about the practice of genetics because they're going to be involved directly or indirectly in genetic testing and conveying information about what the results mean to patients and their families,” explains co-author Dr. Ethylin Wang Jabs, enterprise chair of the Department of Clinical Genomics for Mayo Clinic. Jabs and her co-author, Dr. Antonie Kline, director of Clinical Genetics at the Harvey Institute for Human Genetics at Greater Baltimore Medical Center, chose a format that makes heavy use of case studies to help readers get a better grasp on this complicated field and they also include chapters on direct-to-consumer testing and the ethical and social implications in genomic medicine. “Any kind of potentially predictive testing can have ethical issues related to it, including insurance coverage, testing for family members, protections for minors, and more,” says Dr. Kline. Join host Caleb Furnas for an illuminating episode on an area of discussion in medicine that's growing in importance as the use of genetic testing rapidly increases. Mentioned in this episode: Genomics in the Clinic: A Practical Guide If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/raisethelinepodcast

The history of science is punctuated by moments of technological innovation that produce a paradigm shift and a subsequent flurry of discovery. A recent technological innovation that generated diverse discoveries, ranging from a profound shift in our understanding of the origin of humanity to a seismic change in the criminal justice system, is the polymerase chain reaction, or PCR. With us to discuss the history of PCR is one of its innovators, Henry Erlich. As Director of the Human Genetics Department at Cetus Corporation and later as Director of Human Genetics and Vice President of Exploratory Research at Roche Molecular Systems, Henry led developments in diagnostic applications for infectious and autoimmune diseases, forensic genetics, and organ transplantation. His laboratory performed the first forensic DNA case in the United States in 1986 and the first DNA-based post-conviction exoneration. Henry has published over 450 journal articles and three books, which include PCR Technology: Principles and Applications for DNA Amplification, Silent Witness: Forensic DNA Analysis in Criminal Investigations and Humanitarian Disasters, and Genetic Reconstruction of the Past: DNA Analysis in Forensics and Human Evolution. Henry has received numerous awards, including the Association for Molecular Pathology Award for Excellence (2000) and the Profiles in DNA Courage Award (National Institute of Justice, 2005).

In our penultimate episode of the season, we begin by discussing the counselling issues and interventions raised in episode 3: Opening the envelope. We'll then present this week's case, where the GC faced a difficult situation in predictive test counselling for an adult-onset condition without any treatments.  Support us by buying a coffee: https://buymeacoffee.com/gcchatpod Sound engineer: Shaun Allen You will find suggestions for support, our privacy statement and disclaimer, and more information about topics referenced in our discussion on our website. https://gcchatpodcast.libsyn.com/  You can find us on Instagram, Facebook and Bluesky. Join the discussion with #GCchatpodcast References mentioned in our discussion: Crook et al., (2022). Genetic counseling and testing practices for late-onset neurodegenerative disease: A systematic review. Journal of Neurology. https://doi.org/10.1007/s00415-021-10461-5  Guimarães, et al. (2013). What Counts as Effective Genetic Counselling for Presymptomatic Testing in Late-Onset Disorders? A Study of the Consultand's Perspective. Journal of Genetic Counseling  https://doi.org/10.1007/s10897-012-9561-3  Howard, et al., (2024). Experiences of predictive genetic testing in inherited motor neuron disease: Findings from a qualitative interview study. Journal of Genetic Counseling. https://doi.org/10.1002/jgc4.1904   MacLeod et al., (2013). Editorial Committee and Working Group ‘Genetic Testing Counselling' of the European Huntington Disease Network. Recommendations for the predictive genetic test in Huntington's disease. Clinical Genetics. https://doi.org/10.1111/j.1399-0004.2012.01900.x Vears, et al., (2020). Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children. Twin Research and Human Genetics. https://doi.org/10.1017/thg.2020.51

This week we're joined by Director of Research in Human Genetics, Laura Hercher. In addition to establishing a healthy work-life balance, Tim and Laura discuss the wide-ranging consequences of treating embryos as people, when life begins, how the process of Genetic Counseling works, and what's a big way genetics plays a role in our lives that we're largely ignorant of.Follow Sarah Lawrence College on ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠,⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠,⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Vimeo⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠,⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ YouTube⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠, and⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠.And give this podcast a five star rating and review in Apple Podcasts or follow us on Spotify. Thanks for listening!

In this episode, we begin by discussing the counselling issues and interventions raised in episode 1: Ethical Conflicts. We'll then present this week's case, where the genetic counsellor encountered countertransference. Support us by buying a coffee: https://buymeacoffee.com/gcchatpod Sound engineer: Shaun Allen You will find suggestions for support, our privacy statement and disclaimer, and more information about topics referenced in our discussion on our website. https://gcchatpodcast.libsyn.com/  You can find us on Instagram, Facebook and Bluesky. Join the discussion with #GCchatpodcast References mentioned in our discussion: Crook, et al., (2022). Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences. Journal of Genetic Counseling,  https://doi.org/10.1002/jgc4.1591   Crook, et al., (2021). Patient and relative experiences and decision-making about genetic testing and counseling for familial ALS and FTD: A systematic scoping review. Alzheimer Disease & Associated Disorders https://doi.org/10.1097/WAD.0000000000000458   May & Spellecy, (2006). Autonomy, full information and the right not to know. European journal of health law, 6(2), 119-132 World Health Organisation Meeting on Ethical Issues in Medical Genetics (‎1997: Geneva, Switzerland)‎ & WHO Human Genetics Programme. (‎1998)‎. Proposed international guidelines on ethical issues in medical genetics and genetic services: report of WHO meeting on Ethical Issues in Medical Genetics. https://iris.who.int/handle/10665/63910. Vears et al., (2020). Human Genetics Society of Australasia Position Statement: Predictive and Pre-symptomatic Genetic Testing in Adults and Children. Twin Research and Human Genetics.https://doi.org/10.1017/thg.2020.51

Title: Episode 6- Hypothesis Testing (e.g. Type 1 and Type II Errors, P-values) Target Audience This activity is directed to physicians who take care of hospitalized children, medical students, nurse practitioners, and physician assistants working in the emergency room, intensive care unit, or hospital wards. Objectives: Upon completion of this activity, participants should be able to: 1.      Discuss the definition and relevance of p-values. 2.      Discuss type 1 vs type ii errors. 3.      Discuss statistical significance and what it means.   Course Directors: Tony R. Tarchichi MD — Associate Professor, Department of Pediatrics, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center (UPMC.) Paul C. Gaffney Division of Pediatric Hospital Medicine. No relationships with industry relevant to the content of this educational activity have been disclosed. Jenna Carlson Ph.D. - University of Pittsburgh- Assistant Professor of Human Genetics and Biostatistics in school of Public Health No relationships with industry relevant to the content of this educational activity have been disclosed. Conflict of Interest Disclosure: No other planners, members of the planning committee, speakers, presenters, authors, content reviewers and/or anyone else in a position to control the content of this education activity have relevant financial relationships to disclose. Accreditation Statement: In support of improving patient care, the University of Pittsburgh is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.  The University of Pittsburgh School of Medicine designates this enduring material activity for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should only claim credit commensurate with the extent of their participation in the activity. Other health care professionals will receive a certificate of attendance confirming the number of contact hours commensurate with the extent of participation in this activity.   Disclaimer Statement: The information presented at this activity represents the views and opinions of the individual presenters, and does not constitute the opinion or endorsement of, or promotion by, the UPMC Center for Continuing Education in the Health Sciences, UPMC / University of Pittsburgh Medical Center or Affiliates and University of Pittsburgh School of Medicine.  Reasonable efforts have been taken intending for educational subject matter to be presented in a balanced, unbiased fashion and in compliance with regulatory requirements. However, each program attendee must always use his/her own personal and professional judgment when considering further application of this information, particularly as it may relate to patient diagnostic or treatment decisions including, without limitation, FDA-approved uses and any off-label uses. Released 2/20/2025,  Expires 2/20/2028 The direct link to the course is provided below: https://cme.hs.pitt.edu/ISER/app/learner/loadModule?moduleId=25580&dev=true

Episode 213: Challenging Medical Guidelines on Misattributed PaternityIn this special episode, host Richard Wenzel leads a compelling discussion with fellow NPEs Gina Daniel, Jodi Girard, Lily Wood, and Eve Sturges. Together, they dive into their recent article, Misattributed Paternity Discovery: A Critique of Medical Organizations' Recommendations, published in the American Journal of Human Genetics. The conversation explores the implications of current medical guidelines, personal experiences, and the broader impact of misattributed paternity discoveries.Resources mentioned:NPE GuideWho Even Am I Anymore? A process journal by Eve Sturges Untangling Our Roots NPE Stories Ep. 73 Richard's Story and Ep. 100 100th Episode of NPE StoriesEverything's Relative with Eve SturgesMisattributed paternity discovery: A critique of medical organizations' recommendationsby Richard Wenzel, Gina Daniel, Jodi Girard, Lily Wood, and Eve SturgesASHGOur Father on NetflixThe Little Dark One: A True Story of Switched at Birthby Shirley Munoz NewsomUprooted: Family Trauma, Unknown Origins, and the Secretive History of Artificial Inseminationby Peter J. BoniComments and Questions can be emailed to npeadvocate@gmail.com NPE Stories PatreonNPE Stories facebook pagehttps://www.facebook.com/NPEstories

In this episode of the Epigenetics Podcast, we talked with Giacomo Cavalli from the Institute of Human Genetics in Montpellier about his work on critical aspects of epigenetic regulation, particularly the role of Polycomb proteins and chromatin architecture. We start the Interview by talking about Dr. Cavalli's work on Polycomb function in maintaining chromatin states and how it relates to gene regulation. He shares insights from his early lab experiences, where he aimed to understand the inheritance mechanisms of chromatin states through various models, including the FAB7 cellular memory module. The discussion uncovers how Polycomb proteins can silence gene expression and the complex interplay between different epigenetic factors that govern this process. Dr. Cavalli also addresses how he has investigated the recruitment mechanisms of Polycomb complexes, highlighting the roles of several DNA-binding proteins, including DSP-1 and GAGA factor, in this intricate regulatory landscape. He emphasizes the evolution of our understanding of Polycomb recruitment, illustrating the multifactorial nature of this biological puzzle. As the conversation progresses, we explore Dr. Cavalli's fascinating research into the three-dimensional organization of the genome. He explains his contributions to mapping chromosomal interactions within Drosophila and the distinctions observed when performing similar studies in mammalian systems. Key findings regarding topologically associated domains (TADs) and their association with gene expression are presented, alongside the implications for our understanding of gene regulation in development and disease.   References Déjardin, J., Rappailles, A., Cuvier, O., Grimaud, C., Decoville, M., Locker, D., & Cavalli, G. (2005). Recruitment of Drosophila Polycomb group proteins to chromatin by DSP1. Nature, 434(7032), 533–538. https://doi.org/10.1038/nature03386 Sexton, T., Yaffe, E., Kenigsberg, E., Bantignies, F., Leblanc, B., Hoichman, M., Parrinello, H., Tanay, A., & Cavalli, G. (2012). Three-dimensional folding and functional organization principles of the Drosophila genome. Cell, 148(3), 458–472. https://doi.org/10.1016/j.cell.2012.01.010 Bonev, B., Mendelson Cohen, N., Szabo, Q., Fritsch, L., Papadopoulos, G. L., Lubling, Y., Xu, X., Lv, X., Hugnot, J. P., Tanay, A., & Cavalli, G. (2017). Multiscale 3D Genome Rewiring during Mouse Neural Development. Cell, 171(3), 557–572.e24. https://doi.org/10.1016/j.cell.2017.09.043 Szabo, Q., Donjon, A., Jerković, I., Papadopoulos, G. L., Cheutin, T., Bonev, B., Nora, E. P., Bruneau, B. G., Bantignies, F., & Cavalli, G. (2020). Regulation of single-cell genome organization into TADs and chromatin nanodomains. Nature genetics, 52(11), 1151–1157. https://doi.org/10.1038/s41588-020-00716-8   Related Episodes BET Proteins and Their Role in Chromosome Folding and Compartmentalization (Kyle Eagen) Long-Range Transcriptional Control by 3D Chromosome Structure (Luca Giorgetti) Epigenetic Landscapes During Cancer (Luciano Di Croce)   Contact Epigenetics Podcast on Mastodon Epigenetics Podcast on Bluesky Dr. Stefan Dillinger on LinkedIn Active Motif on LinkedIn Active Motif on Bluesky Email: podcast@activemotif.com

On February 13, 2025 we met with Yin Shen to discuss the contribution of cis-regulatory non-coding DNA sequences in controlling gene expression, and how variation of these regions in microglia may be risk factors in idiopathic brain diseases.Guest:Yin Shen, Professor in the Department of Neurology and the Institute for Human Genetics in the Weill Institute for Neurosciences at the University of California San Francisco School of MedicineParticipating:Melanie Carless, Department of Neuroscience, Developmental and Regenerative Biology, UTSAHost:Charles Wilson, Department of Neuroscience, Developmental and Regenerative Biology, UTSAThanks to Jim Tepper for original music

I reached out to Dr. Saquib Lakhani and his collaborator after reading about their discovery of the Jeffries-Lakhani Neurodevelopmental Syndrome (JELAN). Dr. Lakhani agreed to be my guest. This conversation is about a possible future for those born with a rare disease. I had no idea the numbers were so high, 8 - 10% of the U.S. population has a "rare" disease. I would guess these numbers are higher. I'd like us to start testing those with Cerebral Palsy and Autism to see if some individuals may also have an undiagnosed condition. In my perfect world, everyone will have their genes sequenced at birth. I believe gene editing will eventually help improve our healthspan, allowing us to live longer lives that we can enjoy. Resources: American Society of Human Genetics - https://www.ashg.org/ Yale's Pediatric Genomics Discovery Program - https://www.yalemedicine.org/departments/pediatric-genomics Jeffries-Lakhani Neurodevelopmental Syndrome (JELANS) - https://omim.org/entry/620771

Title: Episode 2- Study Design, Performance, Analysis and Generalizability Target Audience This activity is directed to physicians who take care of hospitalized children, medical students, nurse practitioners, and physician assistants working in the emergency room, intensive care unit, or hospital wards. Objectives: Upon completion of this activity, participants should be able to: Review Study design. Review Performance and analysis. Review generalizability vs internal validity.   Course Directors: Tony R. Tarchichi MD — Associate Professor, Department of Pediatrics, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center (UPMC.) Paul C. Gaffney Division of Pediatric Hospital Medicine. Jenna Carlson Ph.D. - University of Pittsburgh- Assistant Professor of Human Genetics and Biostatistics in school of Public Health Rebekah Miller MLIS - University of Pittsburgh School of Medicine - Research & Instruction Librarian Conflict of Interest Disclosure: No other planners, members of the planning committee, speakers, presenters, authors, content reviewers and/or anyone else in a position to control the content of this education activity have relevant financial relationships to disclose. Accreditation Statement: In support of improving patient care, the University of Pittsburgh is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.  The University of Pittsburgh School of Medicine designates this enduring material activity for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should only claim credit commensurate with the extent of their participation in the activity. Other health care professionals will receive a certificate of attendance confirming the number of contact hours commensurate with the extent of participation in this activity.   Disclaimer Statement: The information presented at this activity represents the views and opinions of the individual presenters, and does not constitute the opinion or endorsement of, or promotion by, the UPMC Center for Continuing Education in the Health Sciences, UPMC / University of Pittsburgh Medical Center or Affiliates and University of Pittsburgh School of Medicine.  Reasonable efforts have been taken intending for educational subject matter to be presented in a balanced, unbiased fashion and in compliance with regulatory requirements. However, each program attendee must always use his/her own personal and professional judgment when considering further application of this information, particularly as it may relate to patient diagnostic or treatment decisions including, without limitation, FDA-approved uses and any off-label uses. Released 1/23/2025,  Expires 1/23/2028 The direct link to the course is provided below:

This first episode in a multipart series on genetics in epilepsy covers the basics of genetic testing. Dr. Alina Ivaniuk interviews Dr. Ilona Krey, a physician and researcher at the Institute of Human Genetics at Leipzig University Medical Center. Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.Let us know how we're doing: podcast@ilae.org.The International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, X (Twitter), Instagram, and LinkedIn.

Como fatores ambientais e experiências de vida podem influenciar o nosso DNA, sem alterar sua sequência? Separe trinta minutinhos do seu dia e descubra, com a Mila Massuda, o que é epigenética e como esse fenômeno intrigante impacta a expressão gênica. Apresentação: Mila Massuda (@milamassuda) Roteiro: Mila Massuda (@milamassuda) e Emilio Garcia (@emilioblablalogia) Revisão de Roteiro: Vee Almeida Técnica de Gravação: Julianna Harsche (@juvisharsche) Editor: Angélica Peixoto (@angewlique) Mixagem e Masterização: Lívia Mello (@adiscolizard) Produção: Prof. Vítor Soares (@profvitorsoares), Matheus Herédia (@Matheus_Heredia) e BláBláLogia (@blablalogia) Gravado e editado nos estúdios TocaCast, do grupo Tocalivros (@tocalivros) REFERÊNCIAS ALBERTS, Bruce et al. Biologia molecular da célula. Artmed Editora, 2017. CAVALLI, G.; HEARD, E. Advances in epigenetics link genetics to the environment and disease. Nature, v. 571, n. 7766, p. 489–499, jul. 2019. COSTA, D. L.; YETTER, N.; DESOMER, H. Intergenerational transmission of paternal trauma among US Civil War ex-POWs. Proceedings of the National Academy of Sciences, v. 115, n. 44, p. 11215–11220, 15 out. 2018. DIAS, B. G.; RESSLER, K. J. Parental olfactory experience influences behavior and neural structure in subsequent generations. Nature Neuroscience, v. 17, n. 1, p. 89–96, 1 dez. 2013. KAATI, G.; BYGREN, L.; EDVINSSON, S. Cardiovascular and diabetes mortality determined by nutrition during parents' and grandparents' slow growth period. European Journal of Human Genetics, v. 10, n. 11, p. 682–688, 29 out. 2002.

We kick off 2025 on Raise the Line by sharing some good news for providers struggling to keep up with the growing number of applications for genomic testing: a new book from Elsevier Science Direct has been designed to arm you with the knowledge you need. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counselingdives into the use of this important tool in diagnosis and screening, indicating how individuals may respond to drug therapies, and more. “We really need to educate all healthcare providers about the practice of genetics because they're going to be involved directly or indirectly in genetic testing and conveying information about what the results mean to patients and their families,” explains co-author Dr. Ethylin Wang Jabs, enterprise chair of the Department of Clinical Genomics for Mayo Clinic. Jabs and her co-author, Dr. Antonie Kline, director of Clinical Genetics at the Harvey Institute for Human Genetics at Greater Baltimore Medical Center, chose a format that makes heavy use of case studies to help readers get a better grasp on this complicated field and they also include chapters on direct-to-consumer testing and the ethical and social implications in genomic medicine. “Any kind of potentially predictive testing can have ethical issues related to it, including insurance coverage, testing for family members, protections for minors, and more,” says Dr. Kline. Join host Caleb Furnas for an illuminating episode on an area of discussion in medicine that's growing in importance as the use of genetic testing rapidly increases.Mentioned in this episode: Genomics in the Clinic: A Practical Guide

This week on The Genetics Podcast, we're joined by Hilary Martin, Group Leader in Human Genetics at the world-renowned Wellcome Sanger Institute. Hilary and Patrick discuss her group's work on neurodevelopmental conditions, the role of common genetic variants in rare disease, and how to untangle the impact of direct and indirect genetic influences on various traits. Find out more Nature paper: Examining the role of common variants in rare neurodevelopmental conditions https://www.nature.com/articles/s41586-024-08217-y Genes and Health Project https://www.genesandhealth.org

We're thrilled to share a special episode drop from one of our producers, Kira Dineen, and her flagship podcast, DNA Today! As a multi award winning genetics podcast with over 12 years of groundbreaking episodes, DNA Today explores the latest in genetics and genomics through expert interviews and engaging discussions.    To celebrate the new year, this episode reflects back on the top genetics and genomics news stories during 2024. The top stories we chatted about are from the American Journal of Human Genetics' “Genomic medicine year in review: 2024” paper.    Joining Kira Dineen for this discussion are two leaders in genomics: Dr. Bruce Gelb and Dr. Eric Green. In this reflective conversation, Kira Dineen, Dr. Bruce Gelb, and Dr. Eric Green discusses the significant developments in genetics and genomics over the past year, including the recent American Society of Human Genetics (ASHG) conference. They explore themes such as variable expressivity, the integration of genomics in human genetics, and the importance of diversity in genomic research.    The discussion also highlights key publications in genomic medicine and the evolving landscape of genetic research, emphasizing the need for continued focus on prevention and the implications of polygenic risk scores. They converse about the evolving landscape of genomic medicine, highlighting key advancements in research, particularly in areas like hemochromatosis and CRISPR technology. They reflect on the rapid progress made in genomic sequencing, especially in newborns, and the transformative impact it has on healthcare, particularly in NICUs. The discussion emphasizes the importance of diverse studies and scalable solutions in genetic counseling, as well as the future potential of genomic medicine to save lives and improve health outcomes.    Top 2024 Genomic Medicine Advancements Testing and managing iron overload after genetic screening-identified hemochromatosis Actionable genotypes and their association with lifespan in Iceland Impact of digitally enhanced genetic results disclosure in diverse families Chronic disease polygenic risk scores for clinical implementation in diverse US populations Skeletal Muscle Ryanodine Receptor 1 Variants and Malignant Hyperthermia Treating inherited retinal disease with gene-editing Validation of a clinical breast cancer risk assessment tool for all ancestries Broader access to clinical genome sequencing benefits diverse individuals with rare diseases Benefits for children with suspected cancer from routine whole-genome sequencing Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records   The Guests:    Bruce D. Gelb, M.D. is the Director and Gogel Family Professor of the Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai. He is Professor of Pediatrics and of Genetics and Genomic Sciences. Dr. Gelb completed a pediatric residency and pediatric cardiology fellowship at Babies Hospital of Columbia-Presbyterian Medical Center and Texas Children's Hospital at the Baylor College of Medicine, respectively. He joined the faculty at Mount Sinai in 1991 after fellowship and has remained there since. He developed and now oversees an extensive program in genomics/gene discovery for congenital heart disease. Dr. Gelb has received the E. Mead Johnson Award from the Society for Pediatric Research and the Norman J. Siegel New Member Outstanding Science Award from the American Pediatric Society. He was elected to the American Society of Clinical Investigation and the National Academy of Medicine (formerly, the Institute of Medicine). Dr. Gelb is the President for the American Pediatric Society, Immediate Past President for the International Pediatric Research Foundation and Treasurer-Elect for the American Society of Human Genetics. In addition to his research, he co-directs the Cardiovascular Genetics Program at Mount Sinai.   Dr. Eric Green is the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green's relationship with the Institute began long before his appointment as director. He served as the Institute's scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005). Throughout his career, he has authored and co-authored over 385 scientific publications.    Dr. Green is a recurring guest on DNA Today, and he might hold the title as the guest who has been on the show the most times! He was featured on Episode #182 when we chatted about the Human Genome Project and the recent completion of the human genome sequence -- from telomere to telomere. Dr. Green was a panelist on the PhenoTips Speaker Series installment that our host Kira Dineen moderated about population genomics in clinical practice, this was also released on the DNA Today podcast feed as Episode #260. He was also on the last couple years for our genetics wrapped 2022 (#214) and 2023 (#263).    Be sure to subscribe to DNA Today wherever you get your podcasts to explore hundreds of episodes on topics ranging from genetic counseling to cutting-edge research in genomics. New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.    DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Send us a textHow do you make an informed decision if your baby may be born with a life threatening illness.  Genetic diseases can be heart wrenching.Kira Dineen joins us to discuss the challenges surrounding genetic diseases and the sometimes difficult decisions parents have to make.  We will also talk about the revolutionary gene editing tool, CRISPR, that is clustered regularly interspaced short palindromic repeats”.  What is that? Join us to find out.  Please don't forget to hit the like button and subscribe at natureandsciencepodcast.comShe is the host of the podcast DNA Today.  She started “DNA Today: A Genetics Podcast” in 2012 which also became a radio show in 2014. The podcast has since produced over 140 episodes interviewing experts in the field. “DNA Today” won the Best 2020 Science and Medicine Podcast Award along with four other nominations. Kira received her Diagnostic Genetic Bachelor's of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master's of Science in Human Genetics at Sarah Lawrence College in New York. She is the host of the PhenoTips Speaker Series and currently practices as a genetic counselor in a high risk prenatal private practice.She is here today to discuss genetic testing, the Nobel Prize winning CRSPR gene editing technique and the to talk about the overall quality and safety of DNA testing by such companies as 23&Me and Ancestry.com.  Kira, Welcome to the program.https:/natureandsciencepodcast.com#podmatch

In the fifth Season of the National Institute of Neurological Disorders and Stroke's Building Up the Nerve podcast, we help you strengthen your science communication skills with tools and advice to use throughout your career. We know that navigating your career can be daunting, but we're here to help—it's our job!In the seventh episode of the season, we talk about Engaging with Non-Scientists focusing on interactive strategies to promote public awareness of and participation in science, and spoke to the importance of being able to effectively communicate your work to multiple audiences.Featuring Jennifer Buckley, PhD, Professor in Mechanical Engineering at the University of Delaware and Co-Founder & President of The Perry Initiative; Sadhana Jackson, MD, Investigator in the Surgical Neurology Branch in the NIH National Institute of Neurological Disorders and Stroke; and Michael Wells, PhD, Assistant Professor of Human Genetics at the University of California, Los Angeles.ResourcesWatch Dr. Sadhana Jackson on Karen Hunter Show: https://www.youtube.com/watch?v=2AAo6zxKRxo The Perry Initiative: https://perryinitiative.org/ Society for Neuroscience Advocacy Network: https://www.sfn.org/advocacy/advocacy-network MIT Science Policy Initiative: https://mitspi.squarespace.com/ Transcript available at http://ninds.buzzsprout.com/.

In this episode of Better Buildings for Humans, host Joe Menchefski sits down with Yohany Albornoz, a trailblazing neuroarchitect and founder of Discover Neuroarchitecture and Marketer Architect Agency. Together, they delve into the burgeoning field of neuroarchitecture—an interdisciplinary approach that integrates neuroscience and design to create spaces that align with human biology and behavior. Yohany shares compelling insights and case studies, from the healing power of nature views in hospitals to the cognitive boost provided by biophilic classrooms. Listeners will hear about the subtle yet profound impact of architecture on emotions, productivity, and even problem-solving—illustrated by stories like Jonas Salk's groundbreaking polio vaccine discovery. Discover how neuroarchitecture prioritizes well-being, fosters a sense of belonging, and redefines what it means to inhabit a space. Don't miss this episode packed with inspiration for designing spaces that truly serve humanity. About Yohany Albornoz: Yohany Albornoz is a Venezuelan Architect specialized in the intersection of neuroscience and architecture. She holds a Master's degree in Neuroscience for Architecture from Universitat Iuav di Venezia (2021), postgraduate studies in Visual Design and Branding from Artidi, Barcelona (2018), and another Master in Architectural Acoustics from Universidad Ramon Llull (2011). Her early architectural foundations were laid at FAU UCV, Caracas, Venezuela, where she graduated in 2008. As an independent researcher, she contributes as consultant at the University of Texas Rio Grande Valley under the Alzheimer's Disease Resource Center for Minority Aging Research, Neurosciences and Human Genetics, led by Dr. Gladys Maestre. Alongside her research, she is guest teacher in neuroarchitecture courses and is a co-founder of Discover Neuroarchitecture, Human Sensory Studio & Consulting, co-founder of Building Art X, Consulting Services for Public Art Projects, and co-founder of The Marketer Architect Agency, dedicated to commercial interior design. Beyond her professional commitments, she is dedicated to her family as a wife and mother of two, and actively promotes breastfeeding as an advocate for maternal health. CONTACT: https://www.instagram.com/themarketerarchitect/?hl=en  https://www.linkedin.com/in/yohanyalbornoz/  Where To Find Us: https://bbfhpod.advancedglazings.com/ www.advancedglazings.com https://www.linkedin.com/company/better-buildings-for-humans-podcast www.linkedin.com/in/advanced-glazings-ltd-848b4625

My guest for the 46th episode is Asia Shcherbakova, a scientist and movement educator. Asia holds a Master of Science in Human Genetics and a PhD in Biotechnology. She is also a co-developer of the Baseworks method, where her focus lies in understanding the brain areas involved in both movement and cognitive tasks. In her second appearance on the podcast, we delved into the topic of dance and its potential impact on human consciousness. Our discussion explored the differences between the experiential insights from my own research, The Metaphysical Body, and Asia's scientific perspectives. This dynamic exchange aimed to deepen our understanding of the mysteries of human consciousness while refining the language necessary for its exploration and study. Show notes: Asia's article: https://baseworks.com/article/disembodied-by-dance-embodied-mind/ Metaphysical Body lecture: https://movementlab.eu/the-metaphysical-body Connect with Asia: https://baseworks.com⁠ ⁠https://www.linkedin.com/in/ksenia-shcherbakova⁠ Support the podcast: ⁠⁠⁠https://movementlab.eu/mftb-support⁠⁠⁠ Subscribe to get the podcast to your email:⁠⁠⁠⁠ ⁠⁠⁠https://movementlab.eu/subscribe⁠⁠⁠⁠⁠ 15% Discount Coupon for our online courses: MATERIALFORTHEBRAIN15%⁠ ⁠⁠⁠https://movementlab.eu/courses⁠

This episode features a conversation between Dr. Timothy Cripe and Dr. Joseph Glorioso, who discuss an article published in Molecular Therapy Oncology by Dr. Glorioso and colleagues titled Oncolytic Herpes Simplex Viruses Designed for Targeted Treatment of EGFR-bearing Tumors. Join the editor-in-chief of Molecular Therapy, Dr. Roland Herzog, and ASGCT this January for the next installment of Molecular Therapy Presents: Clinical Gene and Cell Therapy. This transformative field has grown from promising experimental treatments to approved medicines for a wide range of genetic and/or acquired diseases. This virtual event is free for ASGCT members to attend and will highlight several in-depth invited reviews appearing in Molecular Therapy's Clinical Gene and Cell Therapy special issue. Attend the webinar and learn more about cutting-edge developments in the clinical space before the special issue is published in early 2025. Find Molecular Therapy Presents: Clinical Gene and Cell Therapy, and all upcoming ASGCT events at ASGCT.org/events.  In This Episode Timothy Cripe, MD, PhDEditor-in-Chief, Molecular Therapy Oncology and Professor and Chief of Hematology, Oncology, BMT at Nationwide Children's Hospital Dr. Joseph GloriosoProfessor, Department of Microbiology and Molecular Genetics and Department of Human Genetics at the University of Pittsburgh 'Electric Dreams' by Scott Buckley - released under CC-BY 4.0.www.scottbuckley.com.auShow your support for ASGCT!: https://asgct.org/membership/donateSee omnystudio.com/listener for privacy information.

In this episode we discuss two papers that highlight the importance of communication around family health history and the influence of family beliefs on genetic testing decisions. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.   Segment 1: ““Family health beliefs and cascade genetic testing in Asian families with hereditary cancer risk: “Okay, now what?””   Leena Tran began her career as a cancer genetic counselor at Cedars-Sinai in 2022, after completing her Master's of Science in Human Genetics and Genetic Counseling at Stanford University. Originally from Southern California, she is grateful to have the opportunity to work with patients and providers within the greater Los Angeles area. Leena is passionate about facilitating both provider and patient-directed education, as well as improving health care access and experiences for patients of diverse backgrounds.   In This Segment We Discuss: - The motivation behind exploring family health beliefs and cascade genetic testing in Asian families with hereditary cancer risk.. - Use of a constructivist approach in this study and rationale for choosing this methodology. - Influence of shared health beliefs within families on decisions regarding genetic testing and family communication. - Common strategies participants employed to discuss genetic testing with their relatives. - Roles genetics providers play in facilitating family discussions about cascade genetic testing.   Segment 2: “Young adults' reasoning for involving a parent in a genomic decision-making research study”   Dr. Melanie Myers is a Professor in the Division of Human Genetics, in the Department of Pediatrics, at Cincinnati Children's Hospital. She is the Co-Director of the Graduate Program in Genetic Counseling, a joint program between the University of Cincinnati and Cincinnati Children's Hospital. Dr. Myers has a background in public health genomics with specific training in genetic counseling, public health, social and behavioral sciences, and applied epidemiology. Her research interests include the impact of integrating genomics into public health research and practice. Dr. Myers's current NIH-funded work focuses on empowering adolescents from diverse backgrounds to participate in the decision-making process about learning genomic results. Myers obtained her MS in genetic counseling from the University of Cincinnati and her PhD in public health from the Johns Hopkins School of Hygiene and Public Health. www.cincinnatichildrens.org/geneticcounselingprogram   Julia Pascal is an oncology genetic counselor at Virginia Cancer Specialists. She earned her masters in genetic counseling from the University of Cincinnati genetic counseling program in 2023. Originally from the Washington DC area, Julia is grateful for the opportunity to care for cancer patients in the community where she grew up.    In This Segment We Discuss:   - Unique aspects of young adults' approaches to medical decisions compared to those of older adults. - Influence of cognitive maturity on young adults' readiness to make independent health decisions, particularly in complex fields like genomics. - Challenges encountered in designing a study that addresses both autonomous decision-making and parental influence. - Role of healthcare providers in supporting young adults' transition to independent decision-making.   Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.    For more information about this episode visit dna dialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.    Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.    DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson, and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.

Summary: This week, Patrick is joined by Jim Wilson, Professor of Human Genetics at the University of Edinburgh. Jim discusses the genetics of isolated populations and the Vikings Genes project, which has led him to work with communities from more than 25 Scottish islands, and how new sequencing programs can dramatically improve health outcomes for these groups. He also touches on mapping Prince William's mitochondrial DNA, lobbying Westminster to raise awareness of genetic screening, and his Irish Film & Television Awards (IFTA) winning work with the Irish Traveller community.

Understanding who we are and where we came from is one of the most fascinating questions in science. But it's also one of the most difficult to answer. Putting all of the pieces together requires research across several different disciplines such as genetics, anthropology and medicine. In this episode, we catch up with Professor of Human Genetics and Evolution at College de France in Paris Lluis Quintana-Murci to talk about his latest book Human Peoples: On the Genetic Traces of Human Evolution Migration and Adaptation. He tells us how the characteristics of different human populations have been shaped by the environments they live in, how our genes can protect us against disease and what we learn can from all of this about our future health and wellbeing. Learn more about your ad choices. Visit podcastchoices.com/adchoices

This episode features a conversation between Dr. Roland Herzog and Dr. Joseph Glorioso. On January 1, 2025, Dr. Glorioso will begin his 5-year term as the Editor-in-Chief of Molecular Therapy, marking the end of Dr. Herzog's successful tenure at the helm of the journal. Drs.Herzog and Glorioso engage in a wide-ranging conversation that touches on the history of Molecular Therapy, highlights from the gene and cell therapy field, and how Molecular Therapy will continue to grow and evolve under Dr. Glorioso's leadership. ASGCT is proud to present this episode of the Molecular Therapy Podcast in partnership with our upcoming Breakthroughs in Muscular Dystrophy conference on November 19th and 20th in Chicago, and virtually This event will provide an unparalleled opportunity to delve into the latest advancements in research on gene and cell therapies for muscular dystrophy. Learn more and register today at ASGCT.org/Breakthroughs. In This Episode: Dr. Roland HerzogEditor-in-Chief of Molecular Therapy and Professor of Pediatrics, Riley Children's Foundation Professor of Immunology, and Director of the Gene and Cell Therapy Program at Indiana University Dr. Joseph GloriosoProfessor, Department of Microbiology and Molecular Genetics and Department of Human Genetics at the University of Pittsburgh 'Electric Dreams' by Scott Buckley - released under CC-BY 4.0.www.scottbuckley.com.auShow your support for ASGCT!: https://asgct.org/membership/donateSee omnystudio.com/listener for privacy information.

To learn about colon cancer, we are joined by Gabrielle Shermanski. Gabrielle Shermanski completed her Master of Science in Human Genetics at Sarah Lawrence College in 2020. She is a licensed, board-certified Genetic Counselor at Geisinger with 4 years of clinical experience in adult oncology. Gabrielle's primary interests include helping patients with inherited breast cancer syndromes and inherited GI syndromes facilitate further care and communicate results to family members. Gabrielle has a strong interest in education, mentorship, and outreach opportunities. Her hobbies outside of work include cooking and hanging out with her puppy, RJ.   During the episode Gabrielle mentioned the National Comprehensive Cancer Network's colon cancer guidelines, which you can find here.    Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

On September 23, 2024 we met with Andy Groves to discuss the inner ear and hearing loss, why we can't regenerate our auditory receptors, and how we might someday be able to rebuild our auditory epithelium using gene therapy. Guest: Andy Groves, Professor and Vivian L Smith Endowed Chair in Neuroscience, Departments of Neuroscience and Molecular and Human Genetics, Baylor College of Medicine. Participating: Marina Silveira, Department of Neuroscience, Developmental and Regenerative Biology, UTSA Host: Charles Wilson, Department of Neuroscience, Developmental and Regenerative Biology, UTSA Thanks to Jim Tepper for original music

This week, we're thrilled to welcome Nadav Ahituv, the Director of the Institute of Human Genetics at the University of California, Berkeley. Patrick and Nadav discuss his research on gene regulation, including his intriguing work on bats and their unique metabolic adaptations – and what that means for human health. They also discuss the evolution of our understanding of genetics, from ancient DNA insights to the mechanisms driving human traits, and how these discoveries could pave the way for future therapies.

Steve Horvath made the seminal discovery of the—Horvath Clock— an epigenetic clock based on DNA methylation, which is now being used extensively in medical research and offered commercially for individuals (←we talk about that!). He was on the faculty at UCLA from 2000-2022 as a Professor of Human Genetics and Biostatistics, and now works on anti-aging research at Altos Labs.A perspective on the importance of epigenetic clocks this week's Nature”This insight is crucial for deriving reliable biological markers of ageing in tissues or blood. Such a feat has been accomplished through the ingenious identification of epigenetic clocks in our genome. But these insights are even more important for revealing targets that enable intervention in the ageing process.”A video snippet on vegetable intake and epigenetic clocks. Full videos of all Ground Truths podcasts can be seen on YouTube here. The audios are also available on Apple and Spotify.Transcript with links to Audio and External LinksEric Topol (00:06):Hello, it's Eric Topol with Ground Truths, and I've got a terrific guest with me today, Steve Horvath. He's a geneticist, a statistician, a mathematician. He's got a lot of background that has led to what is a landmark finding in biomedicine, the Horvath clock. So Steve, welcome.Steve Horvath (00:30):Thank you for having me.Eric Topol (00:33):Well, it's really fascinating. I followed your work for well over a decade since you introduced the pan-tissue clock in 2013, and it's fascinating to go back a bit on that finding, which initially, I guess was in saliva a couple of years prior, and then you found it everywhere you looked, wherever cells had a nucleus and tissues. And what gave you the sense that these markers of methylation on the DNA would give us some clues about the aging process? How did you even come about to make this discovery?SerendipitySteve Horvath (01:17):It was an accidental discovery because before the methylation clock, I had worked very hard on a gene expression clock, a transcriptomic biomarker. I mean, I was at the height of my energy levels. I worked really on weekends, really eight hour days during the week. But all the weekends I had collected a large set of gene expression data and I dredged the data. And for two years and I couldn't get anywhere, there was nothing I could do. But nowadays, of course, you see various publications where people built transcriptomic clocks. But back in the day when we had these arrays, I just couldn't see a signal. And then at some point I got roped into a study of homosexuality where my collaborator at UCLA wanted to see whether there's an epigenetic correlate of sexual orientation in saliva. And so yeah, being a biostatistician, I said, sure, I analyzed the data and I couldn't find any signal for homosexuality.(02:48):But then I just looked for an aging signal in the same, and really within an hour of analyzing the data, I knew that I have to completely drop gene expression. I need to go after methylation. And the signal is so profound, and as you said initially we looked at saliva samples and we thought, isn't it curious? You spit in a cup and you can measure someone's age. And we were of course, hoping that this could become a valuable readout of biologic age, but it took, of course, many years to realize that potential. Nowadays, there's several companies that offer a saliva based methylation clock test. But yeah, many years passed, and it was important to fill in the details and to build the case that methylation clocks are predictive of things we care about time to death or time to various forms of morbidity. So it took many, many years to analyze large cohort studies and to accumulate the evidence that it actually works.Eric Topol (04:16):Yeah, I mean, it was pretty amazing back almost a decade ago when I would see, we would take tissue or blood sample and look at your clock and it would say, age of the person is 75 years. And then we look at the actual age of the person who is 75 years to say, wait a minute, how can this be? So I mean, the plausibility of this discovery, if you look back, I mean you say, well, this is just kind of the rust of the pipes, or how do you process that the methylation is such a marker potentially of a person's biologic age? Of course, we're going to get into how it could be a way to intervene to change the aging process. But would it be fair to say that its epigenetic clocks are not the same as biologic aging or how do you put all that together?Epigenetic Age vs Biologic AgeSteve Horvath (05:21):Yes, for sure. An epigenetic age estimate is certainly not the same as a biologic age estimate. And the reason why I say it is because biologic age is really determined by so many things and by so many organs. And as I mentioned initially, we had a clock for saliva later for blood and so on. And so, if you only have an epigenetic readout of a certain cell type, it's really too limited to assess the whole organismal state. And arguably you would want to measure also proteomics, readouts and many other data modalities. So I typically avoid the terminology biologic age, because to begin with, we don't have a definition of it. Decades of discussions, nobody really has a precise definition of it.Second Generation Epigenetic ClocksEric Topol (06:35):Well, from the first generation Horvath clock then became this newer second generation, GrimAge, PhenoAge, the DunedinPACE of aging. How has that helped to advance the field? Because as you touched on, they're measuring different things and what is it meant by kind of a second generation clock?Steve Horvath (07:03):Yeah, so a second generation clock truly aims to predict mortality or morbidity risk. As opposed to simply chronologic age or what is known as calendar age. And fortunately, there's no doubt that the second generation clocks can do that. I often finish a talk on GrimAge by telling the audience that I give them a money back guarantee, that it will be predictive of mortality in their cohort study. I'm 100% certain that it works if you analyze a hundred people or so. The question is more whether an individual could benefit from such a test. And there are now many providers of various epigenetic clock tests. These biomarkers have different names, but they're quite pricey. A couple of hundred dollars are needed to get such a measurement. And the question is, is it helpful for the individual should you get such a test? And I would say we are not quite there yet for a variety of reasons. The main reason being we don't have good interventions against accelerated epigenetic age. So because when you think about it, why does a doctor order a test for you? For example, cholesterol levels. Well, because they have a drug against elevated cholesterol levels, the statin. And at the moment, we don't have validated interventions against accelerated epigenetic age. So that's kind of missing.Eric Topol (09:13):Yeah, we're going to get to that because obviously a lot of things are in the pipeline there, but are you saying then that these people that are getting these consumer tests, that they're getting a test that really wasn't validated at an individual level, so it predicts their mortality that it may be good at a cohort or population level, but maybe it's not so helpful, accurate, or would you say it is accurate? I mean, GrimAge is a good name because since it says when you're going to die. How do you make the differentiation between the individual level or beyond?Steve Horvath (09:59):Yeah, I think it's good to compare to other biomarkers. So take glucose levels, hemoglobin A1C, nobody doubts that these levels predict mortality risk when you study couples a hundred people. But how accurate is such a test for an individual? Clearly there is substantial noise associated with a prediction. Two people could have exactly the same hemoglobin A1C levels, but live very different lifespans. And the same holds for epigenetic clocks. They do predict how long you live. In theory, one could arrive at an estimate of age and death. There's a complicated mathematical formula that allows you to do that, but there would be a substantial error bar associated with it, an order of magnitude plus minus five years. And so, for the individual, such an estimate is not that important because the error bar is substantial. But I want to add that these second generation clocks, they do predict mortality risk. There's no question.Maximal LifespanEric Topol (11:35):Well, as you know, the longevity space is now very crowded with all sorts of clubs, and it's like a circus out there. And some of these things are being promoted that really don't have the basis or have a false sense to consumers who want to live forever and be healthy forever. But maybe these markers are not really helping guide them so much. Now, you recently published you and your group a fascinating paper, so getting away from the individual for a second, but now at the species level and in Science Advances, and we'll put this diagram with the podcast, but you looked at 348 mammal species for the maximal lifespan with DNA methylation. And it was amazing to see the display from the desert hamster all the way to the humpback whale with somewhere along the way, the humans. So you could predict maximal lifespan pretty well, right?Steve Horvath (12:43):Yes. So I collected this very large dataset over seven years, and one of the reasons was to understand the mystery of maximum lifespan. The bowhead whale can live over 211 years, whereas certain mice only three or four years. And my question was, can methylation teach us something about maximum lifespan? And the answer is a resounding, yes. The methylation profiles very much predict the maximum lifespan of a species. And maybe to use a metaphor to explain the patterns. So one can visualize methylation around the DNA molecule, like a landscape. You want that certain regions exhibit high levels of methylation. These regions must be really shut down and other parts of the DNA as opposed to exhibit very low methylation, for example, a transcriptional start sites. And long lived species have a very hilly landscapes, high hills of methylation and steep valleys of low methylation. Where shorter lived species have flatter landscapes. So that was one of the insights of that study. The other perhaps paradoxical insight was that the locations in our DNA that gain methylation with chronologic age, these regions often differ from regions that determine the maximum lifespan of our species. So that's a bit perhaps paradoxical and counterintuitive, but it just shows that the DNA encodes our species characteristics at different locations from our mortality risk.The Other ClocksEric Topol (15:13):Right. No, and I mean it's fascinating. I can imagine how it could take seven years to pull all that data together. It's amazing. Now, one of the issues of course, is if you're trying to gauge the biologic age, which we already established is somewhat different than epigenetic age or a clock, there are many different ways to do that. And you mentioned transcriptome clocks, which are not as well perhaps developed. Obviously, none of these others are developed like the Horvath clock and newer generation clocks, but there's immuno aging clocks like iAge, there's proteomic clocks, there's organ clocks with high-throughput proteomics, thousands of proteins. Do you see these as complimentary, like orthogonal where they each add to the story? Or do you really see the methylation as distinct?Steve Horvath (16:20):Well, I think ideally you measure all of the above to really get a very granular understanding of different facets of aging. And however, scientists always like to find deep connections between different readouts. For example, it would be wonderful if we could use proteomics instead of methylation, or my group has worked on the opposite. So we can actually estimate protein levels in the plasma based on methylation for about 10% of all plasma proteins, you can estimate their levels based on methylation. So yeah, people who are interested in these deeper programs that ideally link everything, some sort of aging program that underlies these different manifestations of aging, they will want to reduce everything. But until we have a deeper understanding, I think let's air on the side of measuring too much.Eric Topol (17:45):Well, what's interesting, as you mentioned, I didn't realize you could basically impute the protein story from the methylation, but one of the issues is if you want to do 11,000 plasma proteins, it could cost a thousand dollars. But if you want to do a bisulfite methylation, you might do that for very inexpensively. So there's a practical part of this too, and the immune characterization is even more expensive and difficult from a practical standpoint. So we go back to that initial work that you did and how you got into an area that is practical, inexpensive compared to some of the alternatives. But as you say, they may have features that are also helpful. Now, this is now the craze, this epigenetic clocks, and I want to mention you probably didn't see it because it's not a journal that you would look at, but just yesterday, July 29th, there were 12 papers published in JAMA Network Open.Modulating Your Epigenetic Clock(18:51):Everything from how loss of loved ones changes your epigenetic clock to PTSD, to vegan diets, to inequities. I mean, just incredible. So it is the rage now. It's taken the biomedical community some years to catch up to where you were. And one of the things of course that we know that from your prior work that is an intervention that helps give a less accelerated epigenetic clock is exercise. And in fact, that was highlighted in our Lancet essay in the first week August issue. But can you comment on that and anything else that we know like plant diets and anything that favorably influence our DNA methylation pattern?Steve Horvath (19:52):Yes. So interestingly, vegetable intake really has a strong effect on GrimAge and many other epigenetic clocks. And maybe this is obvious to the listener, everybody knows that vegetable intake is healthy. However, it's very surprising to me as a scientist to contemplate how is it that vegetable intake affects the methylation levels of your blood? How does it affect the hematopoietic stem cells? I just don't understand the mechanism behind it, and however, the effect is very strong. So we studied postmenopausal women in the women's health initiative, and for these women, we had blood measures of carotenoid levels. So this is an objective measure of vegetable intake, and the correlations were substantial. So that's one intervention I'm quite certain about. Other intervention that have a strong effect relate to metabolic syndrome, anything that relates to type 2 diabetes such as obesity, high glucose levels, that part of the biology very much affects our epigenetic clocks. So disturbed metabolism has a strong effect.Eric Topol (21:37):Has these findings changed your diet or made you exercise more or anything like that?Steve Horvath (21:44):. So I eat a lot of frozen vegetables. My freezer as full frozen vegetables.Eric Topol (21:56):That's great. Well, there's a lot of uses today as we touched on in the Lancet piece as we're waiting for more benchmarking and more work on this. But for example, we have a shortage of donor organs, and there are people who might be of calendar age advanced, but their epigenetic clock might put them at a much younger age. Is that ready for use in the transplant world as one application?Steve Horvath (22:37):I haven't seen that yet. I've seen several studies that have explored that idea. The idea is rather obvious, but I haven't seen it implemented in practicum.Eric Topol (22:53):Another one is that we don't, as you've seen from some of these studies on organ clocks, our organs age at different paces and some people are accelerated heart agers or brain agers. If you had access to tissue to get methylation, would you see the same thing or this is of course of interest because we're trying to understand high risk individuals for age related diseases, whether it's dementia or heart disease or cancer. So is the second generation clocks like PhenoAge just good enough, or would you think that the organ clocks would give you some added insight?Steve Horvath (23:47):Yeah, I would say this is literally the frontier of research. Several groups attempt to use blood methylation or saliva or skin or fat adipose as surrogates for various other organs. And I've seen very encouraging results. So I do think this idea makes scientific sense, and which comes back to one of the miracles of methylation that this is even possible because if you had written a grant 10 years ago where you said, I will measure blood methylation to assess cognitive functioning, for example, you wouldn't have received any score, not in no funding, but however, interestingly, blood methylation does relate to cognitive functioning and many other organ functions. And so, the proof of concepts have been established. Blood methylation relates to fatty liver disease, kidney disease, lung disease. It has all been done in epidemiological studies. However, the question is how much could a blood methylation measurement help an individual? Should I measure my blood methylation to learn about my liver? And I would say we are not there yet because arguably there are wonderful plasma biomarkers to assess organ functions. And in certain ways, one needs to provide evidence that a methylation measurement is superior or compliments plasma based biomarker. And that's a hard hurdle to take.Eric Topol (26:02):Right. I imagine someday it may become the norm of assessing people's risk, but as you say, we're not there yet because it's a tough bar to meet, for sure. Now, you were a Professor from year 2000 at UCLA in multiple departments in genetics and biostats, and then in more recent times you joined the Cambridge unit of Altos, which is one of the companies that has gotten the most attention for its diverse efforts towards modulating, rejuvenating the aging process. So you and many top scientists around the world were recruited to Altos. I know some here at the San Diego campus. Was this thinking that it could help accelerate the whole idea of modulating aging in a favorably way or where do you see that the biotech world can play a role?Can We Change the Pace of Aging?Steve Horvath (27:15):Yes. I mean, speaking for myself, I was getting tired of writing scientific papers and not affecting clinical care. I felt I needed to help identify or validate rejuvenating interventions because of the great promise, and this is perhaps best done in the setting of a biotech that is focused on translation. And that's why I joined. I'm moving away from biomarker development towards finding interventions that move the needle and ideally rejuvenate multiple organs and cell types at the same time.Eric Topol (28:09):Right. Now, there's lots of ideas of how we could do that from senolytics that would get rid of specific senescent cells that are bad actors to epigenetic reprogramming or chemical reprogramming or so many anti-inflammatory, like the recent paper of IL-11 that I'm sure you saw in Nature just a couple of weeks ago and many, many other ways to get there. What are you thinking? Is this going to be possible? Obviously, there's lots of naysayers. Is it going to be possible body wide or only for specific ways? For example, maybe we could bring back the thymus from its involution or we could stop ovarian failure in women so that their loss of advantage is delayed many years. Or do you think we're going to get to body wide anti-aging?Steve Horvath (29:13):Yeah, I think of it as divide and conquer. So ultimately I do believe that we can rejuvenate most cell types and tissues. The question is how do you roll out this program? Do you look for this one silver bullet that does it? For example, this idea of interrupted reprogramming based on Yamanaka factor combinations that looks of course very promising and rodent models. But then such silver bullet treatments could be risky for patient keyword malignant transformation, cancer risk, and it could be far safer to focus on one organ system or one tissue. For example, David Sinclair's company Life Biosciences looks at optic nerve regeneration for a reason. It could be safer. And so yeah, I'm very happy that companies explore different strategies. Certain companies focus on one condition, fatty liver disease or NASH. Other companies focus on immune system restoration. But I think many people think of one condition as really a first step to establish safety and efficacy, and then hopefully they could translate it to other body systems and organ systems.Eric Topol (31:02):But is it fair to say you're optimistic that we will be able to change the aging pace in people?Steve Horvath (31:10):Yes, I think yes. I'm very optimistic and there are several reasons for this optimism. The first is that dramatic results can be achieved in mice and rats. So we and others have published studies that show that you can reduce the epigenetic age by 30% or so and you can extend the lifespan, and you cited this very exciting paper by Stuart Cook on IL-11 inhibition that just came out in Nature. So I keep seeing these kinds of headlines, and then I want to think that one of these will actually work for humans. So the second thing that makes me optimistic is really this combination of artificial intelligence and biomedical research. Then going forward, robotics. So I can see several ways of accelerating biomedical research. So I'm quite optimistic.The Role of A.I.Eric Topol (32:24):Maybe go a little deeper on the AI potential to help here. How does AI come into play?Steve Horvath (32:33):So AI can help in so many different ways. The first topic is biomarker development. I of course spent 10 years on a certain statistical model for building biomarkers, which is known as penalized regression. It works well, but AI allows the community to build imaging based biomarkers. So for example, based on MRI images, but also cells growing in a dish, we can say this treatment aged the cells growing in the dish or rejuvenated them. So that's one topic, biomarker discovery. The second is, of course, to design small molecules, keyword, these protein design where it has greatly accelerated drug discovery. And there are several companies working in this space, and again, there's wonderful case studies that look very convincing to me. And the third aspect of AI is another obvious one. AI can read many papers. I mean, you could be a 50-year-old professor who has read papers their entire life, but an AI can really read far better and summarize insights better.Eric Topol (34:27):Yeah, the complimentary in terms of the reasoning of that information. So absolutely right now, one of the problems we have here is that aging is not seen as a disease. Of course, we can remember when obesity was not considered a disease and then there was a drug and everything changed. But here we don't have a classification it's a disease. It's considered a natural process that is highly variable in people. But the question is, we can't do studies that are going to wait 20, 30 years to find out if we promoted health span and lifespan. And so, we have to rely on these clocks. So how do you see this playing out? Do you think that we might see a regulatory approval on a surrogate proxy, like an advanced Horvath clock, or do you think that's not going to cut it, that you're going to have to show more to get a anti-aging treatment across the regulatory threshold?Steve Horvath (35:42):Yeah, that's a very good question. So I believe that the biomarker community has already assembled enough evidence to offer a battery of tests that could be used as surrogate endpoints of interventional study. And we could discuss the components of this battery. But I would say we already have biomarkers beyond just methylation. One could have the readouts of walking speed or muscle function, many readouts, and they could be aggregated into an index to summarize the biologic age, perhaps, of the individual. So that already exists. At the same time, this field is undergoing explosive growth. You mentioned every day new papers come out in the relatively small field of epigenetic clocks. There's so many papers that it's hard to keep track, but I embrace it. I think it's wonderful because clocks get ever more powerful.(37:11):So yeah, I would say there should be different versions. Ideally, a regulatory agency would make an executive decision and say, for the next three years, use the following five biomarkers. Then a few years later, as the science advances, they could come up with an updated version, but even a 90% solution would very much accelerate progress in the whole field of rejuvenating interventions. So I would very much embrace a top down decision on which biomarkers should be made, because the bottom up approach, by the way, simply doesn't work. The minute you put three professors in the room to come up with a decision, which biomarker is best, there will be three different opinions. We need impartial arbiter that makes a decision.GLP-1 Drugs and Aging Eric Topol (38:23):Now, the drug class that's come on the scene, of course it was in incubating for decades for diabetes, but now obesity and so of the obesity related. But now we're seeing the GLP-1 drugs that are showing potential effects in Parkinson's and Alzheimer's and cardiovascular disease, and even in obesity related cancers. And I mean across the board. And you mentioned metabolic derangement as one of the things that accelerate aging. Do you think these class of drugs that has greatly passed our expectations already and it's being tested of course, with even more potent drugs or triple receptors and pills and whatnot, will that be a candidate as one of the anti-aging interventions in the future?Steve Horvath (39:19):Yeah, for sure. A couple of months ago, I participated in a conference and one of the speakers showed unpublished results from a study, and they looked good to me. I mean, they registered on epigenetic clocks. This is all unpublished, but it made perfect sense to me because I mentioned the clocks do relate to metabolic health. So I was quite pleased that they registered that intervention.Eric Topol (39:56):It's fascinating because we could all be taking GLP-1 drugs someday, not for obesity or not for sleep apnea, but for things that are more far reaching. I didn't know about that unpublished result. That's fascinating.Steve Horvath (40:15):Yeah, I have a joke, which is I wish I was chubby because I would be using these drugs, but I'm relatively slender, so I don't have any good reason to take them.Eric Topol (40:28):That says a lot. I don't know anybody who knows more about this process than you and is very candid and frank about it. So Steve, this has been terrific to have your insights, the body of work that you should be so proud of that extends over many years and many great years and more contributions to come undoubtedly. So thank you for joining us today, and we will follow this continued evolution of our ability, not just to track the aging process, but also to modulate. So thanks very much.Steve Horvath (41:06):Thank you. I really like your podcast Ground Truths, it's very informative. So thank you for this.********************************************************We're appreciative of your reading and subscribing to Ground Truths. All content of these newsletter/analyses and podcasts are free, with no advertisements.Thanks to my producer Jessica Nguyen and Sinjun Balabanoff for audio and video support at Scripps Research.Please share this post, especially if you found it interesting or informative.If you do elect to be a paid subscriber, all proceeds are donated to Scripps Research and such support has already been extremely helpful for our summer internship programs and other educational activities. Comments and questions from paid subscribers are welcome. Get full access to Ground Truths at erictopol.substack.com/subscribe

In this episode, we delve into the impact of the new groundbreaking research uncovering the RNU4-2 genetic variant linked to neurodevelopmental conditions. The discovery, made possible through whole genome sequencing, highlights a genetic change in the RNU4-2 gene that affects about 1 in 200 undiagnosed children with neurodevelopmental conditions, making it more prevalent than previously thought. This discovery represents one of the most common single-gene genetic causes of such conditions. Our host, Naimah Callachand, Head of Product Engagement and Growth at Genomics England, is joined by Lindsay Pearse who shares her journey through the diagnosis of her son Lars. They are also joined by Sarah Wynn, CEO of Unique, and Emma Baple, Clinical Genetics Doctor and Professor of Genomic Medicine in the University of Exeter and the Medical Director of the Southwest NHS Genomic Laboratory Hub. We also hear from the 2 research groups who independently discovered the findings: Dr Andrew Mumford, Professor of Haematology at the University of Bristol Link to the research paper: https://www.nature.com/articles/s41591-024-03085-5  Assistant Professor Nicky Whiffin, Big Data Institute and Centre for Human Genetics at the University of Oxford Link to the research paper: https://www.nature.com/articles/s41586-024-07773-7 To access resources mentioned in this podcast:  Unique provides support, information and networking to families affected by rare chromosome and gene disorders - for more information and support please visit the website. Connect with other parents of children carrying a variation in RNU4-2 on the Facebook group.   "I think one of the things we really hope will come out of diagnoses like this is that we will then be able to build up more of that picture about how families are affected. So, that we can give families more information about not only how their child is affected but how they might be affected in the future."   You can read the transcript below or download it here: https://www.genomicsengland.co.uk/assets/documents/Podcast-transcripts/How-has-a-groundbreaking-genomic-discovery-impacted-thousands-worldwide.docx  Naimah: Welcome to Behind the Genes. Lindsay: So, this feeling that like we've been on this deserted island for eight years and now all of a sudden, you're sort of looking around through the branches of the trees. It's like, wait a minute, there are other people on this island and in this case actually there's a lot more people on this island. Yeah, it's very exciting, it's validating. It gives us a lot of hope and, you know, it has been quite emotional too and also a bit of an identity shift. Being undiagnosed had become quite a big part of our identity, and so now that's kind of shifting a little bit that we have this new diagnosis and are part of a new community. Naimah: My name is Naimah Callachand and I'm Head of Product Engagement and Growth at Genomics England. On today's episode, I'm joined by Lindsay Pearse whose son Lars recently received a genetic diagnosis, made possible by research using data from the National Genomic Research Library, Sarah Wynn CEO of Unique, and Emma Baple, a clinical genetics doctor. Today we'll be discussing the impact of recent research findings which have found a genetic change in the non-coding RNU4-2 gene, to be linked to neurodevelopmental conditions. If you enjoy today's episode, we'd love your support. Please like, share and rate us on wherever you listen to your podcasts. Naimah: And first of all, I would like everyone to introduce themselves. So, Lindsay, maybe if we could come to you first. Lindsay: Great, thank you. So, thank you for having me. I'm Lindsay Pearse, I live outside of Washington DC and I'm a mum to 3 boys. My oldest son Lars who is 8, he was recently diagnosed with the de novo variant in the RNU4-2 gene. Naimah: Thank you. And Emma? Emma: My name is Emma Baple. I'm a Clinical Genetics Doctor which means I look after children and adults with genetic conditions. I'm also a Professor of Genomic Medicine in the University of Exeter and the Medical Director of the Southwest NHS Genomic Laboratory Hub. Naimah: And Sarah? Sarah: Hi, thank you for having me. I'm Sarah Wynn, I'm the CEO of a patient organisation called Unique, and we provide support and information to all those affected by rare genetic conditions. Naimah: Great, thank you. It's so great to have you all here today. So, first of all Lindsay, I wonder if we could come to you. So, you mentioned in your introduction your son Lars has recently been diagnosed with the de novo variant. I wondered if you could tell us a bit about your story, and what it's been like up until the diagnosis. Lindsay: Sure, yeah. So, Lars is, he's a wonderful 8 year-old boy. With his condition, his main symptoms he experiences global developmental delays, he's non-verbal. He's had hypertonia pretty much since birth and wears AFO's to support his walking. He has a feeding disorder and is fed by a G-Tube. Cortical vision impairments, a history of seizures and slow growth, amongst other things. So, that's just a bit of a picture of what he deals with day to day. But he's my oldest child, so first baby. When I was pregnant, we were given an IUGR diagnosis. He was breech, he had a hernia soon after birth, wouldn't breastfeed. But all of these things aren't terribly uncommon, you know. But once he was about 3 or 4 months old, we noticed that he wasn't really able to push up like he should, and we were put in touch with early intervention services for an assessment. So, we went ahead and did that when he was about 4 or 5 months old. And as parents, we could just kind of tell that something was off from the assessors. And, you know, they were very gentle with us, but we could just get that sense that okay, something is off, and they're worried here. So, that kind of kickstarted me into making appointments left, right and centre with specialists. The first specialist that we saw was a neurologist. And yeah, again, that's another appointment that I'll never forget. She referred us to genetics and to get an MRI and some lab work but at the end of the appointment, she said to us, ‘Just remember to love your child.' And, you know, that was quite shocking to us at the time because it wasn't something that had ever crossed our mind that we wouldn't do or felt like we needed to be told to do this. But on the other hand, it certainly set off a lot of worry and anxiety of okay, well, what exactly are we dealing with here? So, fast forward, we saw genetics and that was about when Lars was about 8 months old. We went through a variety of genetic testing, a chromosomal micro-array, a single gene testing, then the whole exome testing. Everything came back negative, but it was explained to us that what was going on was likely an overarching genetic diagnosis that would explain his like, multi-system symptoms. And so meanwhile as he was getting older his global delays were becoming more pronounced and we were also in and out of the hospital a lot at this time. At first, he was in day care and, you know, any sort of cold virus would always turn into like a pneumonia for him. So, we were just in and out of hospital seeing a myriad of specialists, trying to put together this puzzle of what's going on and it was really hard to accept that nobody could figure it out. That was just, you know, sort of mind-blowing to us I guess. So, we applied for and were accepted into the Undiagnosed Diseases Programme at the National Institute of Health over here. The NIH as it's commonly referred to. So, we first went there when Lars was 2. He was one of their youngest patients at the time. But that was a really great experience for us because we felt like they were looking at him holistically and across a bunch of all of his systems, and not just seeing a specialist for sort of each system. So, we really appreciated that. We also did the whole genome sequencing through this research study. Although that also came back negative and so at that point, we were told to kind of keep following up symptomatically. Keep seeing the specialists and eventually maybe one day we'll find an overarching diagnosis, but that science just hadn't quite caught up to Lars. It was hard for me again to believe that and to sort of wrap my head around that. But certainly, it was an education from all of the doctors and geneticists and everyone we saw at NIH, to realise like how far there still was to go in terms of genetic research. How it wasn't also that uncommon to be undiagnosed in the rare disease community. I would say that being undiagnosed sort of became part of our identity. And it's, you know, it was something that, you know, you had to explain to like insurance companies and to his school, and it became part of our advocacy around him. Because without being able to say oh, it's this specific thing and if it was someone who hadn't met Lars before, trying to explain to them that, you know, yeah, within the range of this community you can be undiagnosed, and they just haven't found it yet, but I promise you there is something going on here. And I'd say the other thing too without a diagnosis you have no prognosis, right? And so, trying to figure out what the future would look like. Also, family planning. We waited 5 and a half years before we had another child and, you know, it was certainly an anxiety ridden decision. Ultimately after seeing as many specialists as we possibly could, we still were left with the same answer of well, we just don't really know if it will happen again. So, that was a big decision to make. But again, it just kind of became part of our identity and something that you did eventually accept. But I would say in my experience I feel like the acceptance part also of Lars' disabilities perhaps took me a little bit longer. Because again, I didn't have a prognosis, so I didn't exactly know what we were dealing with. Only as he has become older and, you know, you're sort of getting a better sense of what his abilities might be than being able to understand, okay, this is what I'm dealing with. I need to accept that and do what I can to care for him and our family in the best way that we can. Naimah: Thanks so much for sharing that, Lindsay. I feel like you've touched on a lot of really, you know, a lot of complications and difficulties for your family. Especially, you know, with regards to keeping hopeful and things about the prognosis as well, I'm sure it was really difficult. You've mentioned that Lars was able to be diagnosed recently due to recent research efforts. So, Sarah, I wonder if you can tell us a bit more about these and what the findings have meant for patients with neurodevelopmental conditions. Sarah: Yes. So, I think we know that there are lots of families that are in Lindsay and Lars' position where they know that there is almost certainly an underlying genetic condition, and it just hasn't been found yet. And so, I think we know that lots of researchers are working really hard to try and find those causes. I think over time we know that as time goes on and research goes on, we'll find more of these new genetic causes for neurodevelopmental conditions. I think particularly as we start to look at regions of the genome that we haven't looked at so much so far. But I think one of the things that's really extraordinary about this one is that actually it turns out to be much more common than we might have expected, for one of these new conditions that we haven't found before. But I think it's about one in 200 of those undiagnosed children with neurodevelopmental conditions, have this diagnosis so that's not a small number. That's not a rare finding at all actually, that's much more common than we could ever have anticipated. But I think one of the things that we do know is that as we look further and deeper into that genomic sequence, so, we've started off looking at the bits of the sequence that are genes that code for proteins. This changes in a gene that actually doesn't code for protein, so it's less obvious that it would be important but clearly it is important in development because we know when it has a spelling mistake in it, it causes this neurodevelopmental condition. But there will be as researchers look more and more at these kinds of genes, and also the other part of the genome that is not genes at all, we'll find out more and more the underlying genetic causes of these neurodevelopmental conditions. I think it's also really important to stress why this is so important to find these genetic changes and it's because families really need a diagnosis. Lindsay talked quite eloquently and a lot about that knowing something was off and really wanting to know the reason why. Getting these diagnoses might change care management or treatment, but actually really importantly it just gives an answer to families who have often been looking for an answer for a really long time. Naimah: I just wanted to go back to the point that Sarah made that actually this genetic change is relatively common. Emma, I wondered if you could tell us a bit more about maybe why it took us so long to discover it? Emma: That's an interesting question actually. I suppose the sort of slightly simplified answer to that question is we haven't been able to sequence the whole of a person's genetic information for that long. And so, children like Lars would have had, as Lindsay described lots and lots of genetic tests up until they had a whole genome sequencing which is what Sarah was talking about. The types of tests that we had up until the whole genome sequencing wouldn't have allowed us to look at that bit of the genetic code where this RNU4-2 gene can be found. So, we can only really find that using whole genome sequencing. So, before that existed, we wouldn't have been able to find this cause of developmental condition. Naimah: Okay, thanks Emma. Naimah: Now we're going to hear from one of the two research groups who are responsible for these research findings. First of all, let's hear from Nicky Whiffin. (Clip - Nicky Whiffin) Naimah: How were the findings possible using the Genomics England dataset? Nicky: So, most previous studies have only looked at genetic variants that, in genes that make proteins, but only a subset of our genes actually do makes proteins. The Genomics England dataset we have sequencing information on the entire genome, not just on these protein coding genes and that means we can also look at variants in other genes. So, those that make molecules other than proteins. And RNU4-2 for example, makes an RNA molecule. Naimah: These findings translated to direct patient benefit for patients like Lars who were able to receive support from Unique. How does this demonstrate the value of the dataset? Nicky: Yes. So, it was incredible that we could find so many patients with RNU4-2 variants so quickly. This was enabled by access to Genomics England data but also to other large sequencing datasets around the world. So, we worked with people in the US, in Australia and also in mainland Europe. These large datasets enabled us to spot consistent patterns in the data and by looking across multiple datasets we can also make sure that our findings are robust. When we realised how significant this was and how many families would be impacted, we very quickly contacted Sarah at Unique to see if we could direct patients to them for support. (End of clip) Emma: There's one thing I wanted to raise. It's important to recognise the way that was discovered was through the National Genomic Research Library that Genomics England hosts. To highlight the value of that, and the value of having this centralised resource where families have been kind enough really to allow their data to be shared with some limited clinical information that allowed these researchers to be able to pull this out. And I think it highlights the power of the National Health Service in that we were able to create such a resource. It's really quite astounding that we've found such a common cause of a rare genetic condition, and it wouldn't have happened in the same timescale or in this way without that resource. And then to just say that as Sarah talked about the fact that we've been able to get that information out there, also the researchers were able to get out there and contact the NIH and all of these other programmes worldwide. In Australia, America, everywhere in the world and quickly identify new patients who had this condition and get those diagnoses out really rapidly to people. But all that came from that power of sharing data and being able to have that all in one place and making it accessible to very clever people who could do this work and find these answers. It's so important for families like Lindsay's, and all the families in England and around the world that have got these answers. So, I guess it's a big plug for the value of data sharing and having a secure place where people feel that it's trusted and safe, that enables these diagnoses to be made. Lindsay: If I could just echo that, we're so grateful that that exists in the UK. Just acknowledging like the privilege here that we have had to be able to, I mean for our family in the US, that we've been able to, you know, get ourselves into the NIH study and into the study at Children's National. That takes a lot of work. I feel like not everybody has that opportunity to be able to spend the time to do these applications and to go to all the appointments and get the testing done and have the insurance to cover it. So, very grateful that the system exists in a way in the UK that made this sort of research possible. I just hope that that can be replicated in other places, and also to what Emma was saying earlier, come up with a lower cost test as well for this to further the growth of the community and of course then the corresponding research. Sarah: I think firstly we have to sort of thank all of those families that took part and do share their data, because I think it's not always clear why you might want to do that as a family. I think this is really a powerful example of the benefit of that. I also think the data sharing goes one stage further. So, it's partly about getting the diagnosis, but the data sharing going forward about how this condition impacts families, both clinically and sort of day to day lived experience, is how we'll be able to learn more about these conditions. And so, when families get this diagnosis next week or next year, not only will they get a diagnosis, but they'll get a really good idea about what the condition is and how it might impact their child. Naimah: And Lindsay, coming back to you. So, we've talked about, you know, what it meant for your family before the diagnosis, but what has it meant to have a diagnosis and how did you feel? And what happened whenever you received the diagnosis? Lindsay: Sure. Lars was again part of the NIH Undiagnosed Diseases Research study. So, once you attend this programme and if you are not diagnosed like at the end of your stay, they keep your details on file and you're part of this database at the NIH Undiagnosed Diseases Programme. So, if you're undiagnosed after your sort of week-long work up, your samples stay within the research programme. We were also part of a research programme at Children's National Medical Centre, the Rare Disease Institute. So, our samples were sort of on file there in their database as well. And so, at the end of March I was really quite shocked to receive a call from our long time and trusted geneticist at Children's National that they had found a diagnosis. It was quite emotional. I really kind of didn't believe it. I just kept asking, you know, ‘Are you sure? Is this it?' you know, ‘How confident are we?' Because I think in my head, I sort of always thought that we would eventually find a diagnosis, but I thought that Lars would be, you know, a 30- or 40-year-old adult. I thought it would be decades from now. Like I felt like for whatever reason we had to wait decades for the science to sort of catch up to him. So, we were very, very grateful. It felt very validating, I guess. I had always kind of had this intuition feeling that we were sort of missing something and it's more that the science just hadn't quite caught up yet. But, you know, it was validating to know that okay, Lars is not the only person in the entire world with this, it is something that is relatively common in fact within the rare disease community. That is also very exciting to me personally because I'm hopeful that that will lead more researchers to be interesting in this, given how, quote on quote, common it is. I've sort of been describing it as like a mass diagnosis event but also more so this feeling that like we've been on this deserted island for eight years and now all of a sudden, you're sort of like looking around through the branches of the trees. It's like, wait a minute, there are other people on this island ad in this case, there's actually a lot more people on this island. Yeah, it's very exciting, it's validating. It gives us a lot of hope. And, you know, it has been quite emotional too and also a bit of an identity shift. Because I spoke earlier about how like being undiagnosed had become quite a big part of our identity. So, now that's kind of shifting a little bit that we have this new diagnosis and are part of a new community. But yeah, we're just very grateful that the research had continued. And, you know, I think sometimes you sort of have this feeling of okay, our files are up on a shelf somewhere, you know, collecting dust and are people really looking at them? And actually, it turns out that the research was ongoing and yeah, we're just very grateful for that. Naimah: Thanks so much for sharing, Lindsay. It sounds like it's been a real rollercoaster of emotions for your family and I'm glad to hear that, you know, you've got some hope now that you've got a diagnosis as well. So, moving onto the next question. Emma, I wanted to ask you then, how will these findings improve clinical diagnostic services for those for neurodevelopmental conditions? Emma: So, you asked me earlier about why it had taken so long to find this particular cause of neurodevelopmental condition, and I gave you a relatively simple answer. The reality is one of the other reasons is that almost eight out of ten children and adults who have RNU4-2 related neurodevelopmental condition have exactly the same single letter spelling change in that gene. So, actually that in itself means that when researchers are looking at that information, they might think that it's actually a mistake. Because we know that when we sequence genetic information, we can see mistakes in that sequencing information that are just because the machine has, and the way that we process that data, it's not perfect. So, sometimes we find these little mistakes and they're not actually the cause of a person's problems, they're just what we call an artefact or an issue with the way that that happens. So, that is part of the reason for why it was tricky for us to know whether this was, or rather the researchers to know whether this was or was not the cause of this particular condition. But that in itself is quite helpful when we think about how we might identify more people who have this going forwards. Because unlike in Lars' case where we didn't know what the cause was and so we were still searching, and we didn't know where to look in the billions of letters that make up the genetic code to find that answer, we now know that this is really very common. It's unbelievably common. I think we didn't think we would be finding a cause of a rare genetic condition that was this commonly occurring at this stage. But the fact that it's just a single, it's commonly this one single change in the gene means that we can set up pretty cheap diagnostic testing. Which means that if you were somewhere where you wouldn't necessarily have access to whole genome sequencing, or a more comprehensive testing in that way, we could still be able to pick up this condition. And it's common enough that even if you didn't necessarily recognise that a person had it, you could still have this as part of your diagnostic tool kit for patients who have a neurodevelopmental condition. It's common enough that just doing a very simple test that could be done in any diagnostic lab anywhere in the world, you would be able to identify the majority of people who have this. Naimah: Now let's hear from the other research group who are responsible for these findings. Here is Dr Andrew Mumford. (Clip - Dr Andrew Mumford) Naimah: Why are these research findings significant? Andrew: It offers genetic diagnosis not just for a handful of families but potentially for many hundreds of families, who we all know have been searching often for many, many years for a genetic diagnosis. But actually, there are other gains from understanding how this gene causes neurodevelopmental disorder. We know that there's GRNU4-2 in codes, not a protein actually, but a small nuclear RNA which is unusual for rare, inherited disorders. It's a component of a very complicated molecule called the spliceosome which in turn regulates how thousands of other genes are regulated, how they're made into proteins. So, fundamentally this discovery tells us a lot about the biology of how the spliceosome works. We already know that some other components of the spliceosome can go wrong, and result in diseases like neurodevelopmental disorders. This gives us an extra insight and actually opens the door to, I hope, a whole load of more discoveries of genetic diagnosis possible from other components of this complicated molecule. Naimah: Your research group used a mathematical modelling approach. Can you tell me a bit about this, and what this means for other rare conditions, Andrew? Andrew: So, identifying relationships between changes in individual genes and different kinds of rare, inherited disease is notoriously difficult because of the volume of data that's involved and the need to be absolutely certain that observed genetic changes are actually the cause of different rare, inherited disease. So, applying statistics to that kind of problem isn't new. But what my collaboration group have achieved here, is to develop, actually developed some years ago a completely new approach to applying statistics to genetic data. We call that BeviMed and we've been working for many years on the genes in code that make individual proteins. Most rare disorders are caused by genetic changes in genes that make proteins. What this discovery comes from is actually we've applied the BeviMed statistical technique to genes that don't make proteins, they're non-coding genes. For example, genes that make small nuclear RNA, it's just like RNU4-2. What's unusual about the BeviMed approach is that it's very sensitive to detecting links between genetic changes and rare diseases, and it can detect statistical associations really driven by very, very small numbers of families. So, we apply it to datasets like the 100,00 Genomes dataset and identify associations using statistics that have got a very high probability of association. Other members of the team then seek to corroborate that finding by looking at if we can see the association in other datasets, and we certainly achieve that with RNU4-2. But also, assessing biological plausibility by investigating what we understand already about in this case, a small nuclear RNA, and how it can possibly result in a disease. And we normally try and employ other independent evidence such as experimental investigation. Or going back to our families and asking for additional data to help really test this sort of theory that changes in this particular gene have resulted in a problem with neurodevelopment. (End of clip) Naimah: Emma, are there any other ways that we can identify these conditions based on their clinical presentation? Emma: So, Lindsay and I were talking with you just yesterday, wasn't it? And I asked Lindsay about what sorts of things Lars had in common with other children and adults who have been diagnosed with this condition? I actually think Lindsay probably gives a better summary than I would, so I might ask you to maybe repeat what you said to me yesterday. But the bit of it that really stood out to me was when you said to us that a lot of parents have said, ‘I'm not sure how we weren't all put together in the first place because you notice so many things that were in common.' So, maybe if you can give that summary and then I can translate that back into medical terms, if that's okay Lindsay. Lindsay: Sure, of course. Yeah, it been again, kind of mind blowing, some of the similarities. Especially as we've exchanged pictures and such, and baby pictures especially where some of the children like look like siblings. So, definitely some similarities in facial features, you know, everyone seems to experience some of the slow growth, so a short stature or quite skinny. There's feeding issues also that seem to be quite common. Also, you know, things like the global developmental delays, that's certainly across the board and histories of seizures, that's also quite common. Some people have experienced also some, like, bone density issues, that's not something that we've experienced so far, but that also seems to be quite common. But then also, behaviourally, there's a lot of similarities which has been, I think, quite exciting to a lot of us because you've always thought okay, so this is just my child. And of course, some of that is true but it's also interesting to find out some of these other things that are, you know, are quite similar. So, a lot of people have mentioned their child having, like, an interesting sense of humour. Kind of like a very slapstick sense of humour which is quite interesting. Or everyone seems to love water, everybody loves swimming pools and bathtime, and all of that. Lars loves a windy day. Something about the wind, he just loves it and plane noises and things like that have also come up with other people. So, yeah, it's been really interesting and cool to see. Emma: So, I guess Lindsay's sort of very beautifully summed up what is written in the research publication. So, there's only two research publications so far on this condition, it's all really new. And I am definitely not claim to be a clinical expert on this condition, and I don't think there are any yet. It will take people time to see lots of children and adults who have this particular condition. But ultimately what Lindsay summarised was the common clinical features that have been described by parents. In my job as a clinical genetics doctor, part of what we look at is a person's appearance. So, Lindsay described the photographs of children particularly when they were little, looked very similar. In the photographs that I've seen, I would agree with that. And so obviously those children look like their mum and dad, but they have other features that are in common. They have a characteristic appearance and that helps doctors like me to have an idea as to whether a child or an adult might have a particular condition. Then put together with the sorts of information that Lindsay gave us around the low tone, so being a little bit floppier particularly when they're little. The slow growth and growth problems, problems with eating, also with seizures. Those are all common things that were pulled out of both of the two research publications on this condition and putting that all together into one picture helps doctors to have an idea whether somebody may have a particular condition. That would help us in this case to potentially request that simple test I was talking about, if maybe we were practicing in a part of the world where we wouldn't have the resources that we thankfully do have in the United Kingdom, and in the USA. Naimah: So, Sarah, just coming to you next. How does this research spread awareness and help other patients with these conditions? Sarah: So, I think one of the things that's been really great about research now is that we are able to, you know, social media and things like that mean that we can spread this information really quickly across the world basically. I think what that does is that as well as helping bring people together that they've got this diagnosis, what it does is I think it provides hope for all of those people that Lindsay was talking about at the beginning who don't have a diagnosis. So, that piece around people are still looking, the researchers are working hard and that even if you don't have a diagnosis today you might get one in the future. Lindsay talked about your sample being dusty and not being looked at. I think it gives lots of families, not just those that get this diagnosis but all of those that haven't got a diagnosis, hope, that hopefully in the future they will get a diagnosis. I think one of the things we really hope will come out of diagnoses like this is that we will then be able to build up more of that picture about how families are affected. So, that we can give families more information about not only how their child is affected but how they might be affected in the future. That prognosis information that Linsday said is really missing when you don't have a diagnosis. And I think the other thing that hopefully is the next stage in this journey with this discovery is that those two science publications that Emma talked about, what we will want to do here at Unique working with the researchers and those families that have got a diagnosis, is to produce a patient family friendly information leaflet about this condition. One of the things we know is really important about those patient leaflets is including the photos. Because as both Emma and Lindsay have said that idea that they have facial features in common. And so, if you look at a leaflet and you can recognise your child in it, and you can see others that look like it, that can be a really sort of quite heartwarming experience in what often is a lonely experience with a rare condition. Naimah: And I think kind of on that point about it being a lonely experience, I wondered Lindsay if you could talk a bit more if this research has allowed you to connect with other parents and families who have received a diagnosis, and what impact that's had on your family? Lindsay: Yeah. I mean, and I think everything that Sarah has said was spot on. It's wonderful to have resources like Unique to connect families and have those diagnoses on the platform, so other clinicians can look for it and sort of grow this group. I think that has definitely been the highlight of getting this diagnosis at this stage, right. Because there's not much more you can do with it, with someone so brand new so being able to connect with the other families has been wonderful. One amazing mum who with this diagnosis set up a Facebook group, RNU4-2 Family Connect. And, you know, it's just been amazing to see people from all over the world joining this as they receive this diagnosis, you know, sharing their stories. We've spent countless hours on the weekends over the past couple of months on Zoom calls with total strangers, but just you find that you can just talk for hours and hours because you have so much in common. It's great to see what has worked well for other families and, you know, what has not worked. Sharing resources, just kind of all learning together. Also seeing the spectrum of this diagnosis, I think most genetic disorders have a spectrum and this seems to be the same here. So, that's been very interesting. And of course, our son is 8, Lars is 8. There's now a 33-year-old and a 29-year-old in the Facebook group. Speaking for me personally it's just amazing to see them and like it's very cool to see where they're at. That sort of helps you answer some of those questions about that before were quite unknown when you were thinking about the future. Obviously, everybody's development whether you have a genetic disorder or not, it is going to be what it's going to be, and everybody is going to do their own thing. But being able to see what a path might look like is just so helpful. And, you know, we all want community and connection, and so this has been really, really great to have that now. Sarah: I don't think there's much more that I can add because Lindsay articulated so well. But it's really heartwarming for us to hear the benefits of those connections because that's really why Unique and other support groups exist. Is to provide, partly to provide information, but I think predominantly to put families in touch with other families so that they can find a new home and connect and share experiences. And, you know, stop feeling as alone as they might have done before. Naimah: Okay, we'll wrap up there. Thank you to our guests, Lindsay Pearce, Sarah Wynn and Emma Baple for joining me today as we discussed the research findings which found a genetic change in the RNU4-2 gene which has been linked to neurodevelopmental conditions. If you'd like to hear more like this, please subscribe to Behind the Genes on your favourite podcast app. Thank you for listening. I've been your host and producer, Naimah Callachand, and this podcast was edited by Bill Griffin of Ventoux Digital.

Dr. Kemaladewi has extensive training in human genetics and development of genetic therapy, with a focus on neuromuscular disorders. She is interested in understanding the molecular mechanisms underlying layers of pathophysiology involved in muscular dystrophies, including muscle atrophy, -regeneration, -fibrosis, and nerve damages. In parallel, the exposure to technology-driven field of human genetics has provided a strong basis on her translational research arm. She has a robust portfolio on the development and evaluation of therapeutic genetics, such as antisense oligonucleotides and CRISPR/Cas to correct mutations and modulate disease modifier genes in mouse models.

GUEST 1 OVERVIEW: Dr David Richards is an Australian General Practitioner and Adjunct Professor at an Australian University in the faculty of medicine. He graduated from London University in 1984, having also completed an Honours Degree in Human Genetics and Immunology. He has peer reviewed papers for a major European Journal and presented at International Conferences on Genetics and Carotid Ultrasound. David is a co-founder of Australians for Science and Freedom. GUEST 2 OVERVIEW: Jim Willmott is a long-term defender of the rights of regional communities. Inspired by his love of rural Queensland, Jim has led many successful initiatives protecting the rights of farmers and their properties. He has played an active role in many organisations, standing up to government and commercial entities that ride rough shot over people's livelihoods and property rights. Jim now leads Property Rights Australia (PRA), a grass roots organisation that supports local communities whose property rights are under threat and their voices are not being heard.

Can forests be the salvation for our planet's future? Join us as we explore the dynamic intersection of genetics and sustainable forestry with our guest today, Nthabiseng Dhlamini, a Tree Breeder from South Africa.In our first ever video episode, we take a deep dive into the vital role forests play in our ecological balance and the pressing need for sustainable solutions to combat the threats of deforestation and unsustainable logging. Support the Show.Follow the show on:Twitter: @RootofscipodInstagram: @Rootofscipod YouTube: The Root Of The Science PodcastFacebook: The Root of The Science Podcast LinkedIn: The Root Of The Science PodcastWebsite

GDP Script/ Top Stories for June 4th             Publish Date:  June 4th                From the Ingles Studio Welcome to the Gwinnett Daily Post Podcast. Today is Tuesday, June 4th and Happy 48th Birthday to actress Angelina Jolie. ***06.04.24 – BIRTHDAY – ANGELINA JOLIE*** I'm Bruce Jenkins and here are your top stories presented by KIA Mall of Georgia Teen Charged with Murder of Man in Lilburn Area Subdivision The Teen Driver Facing Charges in The Death of a 4-Year-Old Is Out of Jail Gwinnett Technical College's Respiratory Care Program Earns Award All of this and more is coming up on the Gwinnett Daily Post podcast, and if you are looking for community news, we encourage you to listen daily and subscribe! Break 1: MOG   STORY 1: Teen Charged with Murder of Man In Lilburn Area Subdivision The Gwinnett County Police Department arrested 16-year-old Ryan Abreu for a shooting that left Terrence Weston, 28, dead late Saturday night in unincorporated Lilburn. The incident, deemed drug-related, occurred around 11:30 p.m. on the 3000 block of Betty Jean Court. Abreu faces charges including aggravated assault, felony murder, and firearm possession by a minor. He is charged as an adult and is currently in custody. STORY 2: The Teen Driver Facing Charges in The Death of a 4-Year-Old Is Out of Jail Jacob Johnston, an 18-year-old driver, was charged with second-degree vehicular homicide and reckless conduct for the death of 4-year-old Abigail Hernandez, who was struck while walking with her family in the Mall of Georgia's parking lot on March 10. Johnston was booked into the Gwinnett County Detention Center on Friday and released 16 hours later on a $5,900 bond. Although police initially deemed the incident accidental, the District Attorney's Office decided to press charges. Hernandez's father and sister survived the accident. A court hearing for Johnston has not yet been scheduled. STORY 3: Gwinnett Technical College's Respiratory Care Program Earns Award Gwinnett Technical College's Respiratory Care program has been recognized for its excellence, boasting an 11-year streak of 100% pass rates on the national credentialing exam. This month, the program will receive the Distinguished RRT Credentialing Success Award from the Commission on Accreditation for Respiratory Care, a prestigious honor requiring three years of data, high RRT credentialing success rates, and strong student retention and graduation rates. President D. Glen Cannon highlighted the program's commitment to meeting workforce demands and achieving 100% placement for graduates. The program trains students to care for patients with heart and lung conditions, offering an associate degree that can be completed in two years. For more information, visit Gwinnett Tech's website. We have opportunities for sponsors to get great engagement on these shows. Call 770.874.3200 for more info. We'll be right back Break 2: TOM WAGES   STORY 4: CREATIVITY FUND: Explore Gwinnett Awards $175K in Project Grants Explore Gwinnett recently awarded over $175,000 in funding through the 2024 Gwinnett Creativity Fund, supporting arts and cultural projects. This year, they introduced the Arts Micro Grant for Gwinnett County Public Schools, granting over $25,000 to 17 schools. A record-breaking number of applications were received, with 23 projects funded, including events like “The Color Purple” by Aurora Theatre and “Shakespeare in the Park” by Contemporary Classics Theatre. These initiatives aim to enrich Gwinnett's cultural landscape and foster community development. Nicole Love Hendrickson, Chairwoman of the Gwinnett County Board of Commissioners, highlighted the county's commitment to supporting arts, culture, and entertainment. STORY 5: The New PlayTown Suwanee Offers Bigger Experiences for Kids The newly rebuilt and expanded PlayTown Suwanee playground, located in the Town Center on Main park, has opened to the public, drawing families like the Johnsons, who have fond memories of the original playground. The new facility features three themed play areas, including one resembling Suwanee City Hall and another designed as a treehouse, along with a drive-thru restaurant-themed set. The playground also incorporates inclusive features like wheelchair ramps and sign language walls. Built by volunteers, including Atlanta Falcons players and cheerleaders, the project aims to create a space for community bonding and childhood memories for a new generation.   We'll be back in a moment   Break 3: INGLES 8   STORY 6: Early menopause linked to breast cancer in women Women who experience menopause before 40 face heightened risks of breast and ovarian cancer, according to a new American study. The research suggests relatives of these women also have increased cancer risks, including breast, prostate, and colon cancers. Led by Dr. Corrine Welt from the University of Utah Health, the study focused on women with primary ovarian insufficiency and their relatives. It found that women with early menopause had double the risk of breast cancer and almost quadruple the risk of ovarian cancer. Relatives also faced elevated risks of various cancers. Dr. Welt emphasizes the importance of regular cancer screening for women with infertility or early menopause, especially if they have a family history of cancer. STORY 7: Personalized flu shots closer after major breakthrough Researchers have made a breakthrough in personalized flu vaccines by identifying biomarkers that gauge an individual's ability to resist infection. This discovery could revolutionize vaccination programs, allowing for tailored vaccine doses based on a person's immune response. The study, led by Dr. Nhan Nguyen, analyzed blood samples from 286 donors across multiple flu seasons. They found that current vaccine response assessments may not accurately predict immunity, especially for those with high pre-vaccination antibody levels. The identified biomarkers offer a more sophisticated approach to assessing vaccine effectiveness. The researchers aim to develop personalized flu vaccines and diagnostic tests based on these biomarkers, reducing costs and increasing protection against infection. The findings will be presented at the European Society of Human Genetics conference, signaling a significant advancement in personalized healthcare. We'll have final thoughts after this.   Break 4: INGLES 9 Signoff – Thanks again for hanging out with us on today's Gwinnett Daily Post Podcast. If you enjoy these shows, we encourage you to check out our other offerings, like the Cherokee Tribune Ledger Podcast, the Marietta Daily Journal, or the Community Podcast for Rockdale Newton and Morgan Counties. Read more about all our stories and get other great content at gwinnettdailypost.com Did you know over 50% of Americans listen to podcasts weekly? Giving you important news about our community and telling great stories are what we do. Make sure you join us for our next episode and be sure to share this podcast on social media with your friends and family. Add us to your Alexa Flash Briefing or your Google Home Briefing and be sure to like, follow, and subscribe wherever you get your podcasts. Produced by the BG Podcast Network   Show Sponsors: www.ingles-markets.com  www.wagesfuneralhome.com www.kiamallofga.com See omnystudio.com/listener for privacy information.

GUEST OVERVIEW: Dr. David Richards is one of the co-founders of the ASF or Australians For Science and Freedom. He's also a is an Australian General Practitioner and an Adjunct Professor at an Australian University in the faculty of medicine. He graduated from London University in 1984, having also completed an Honours Degree in Human Genetics and Immunology there. He has peer reviewed papers for a major European Journal and presented at International Conferences on Genetics and Carotid Ultrasound.

In this video, Dr. Neal Weinreb, Voluntary Associate Professor for Human Genetics at the University of Miami Miller School of Medicine, answers questions asked by the audience during his CME/NCPD–approved activity with i3 Health, Exploring Treatment Advances for Acid Sphingomyelinase Deficiency (ASMD) in Adults. Dr. Weinreb shares insights into screening for lysosomal storage disorders, genetic carrier testing, resources for family and caregivers, the future of treatment with olipudase alfa, and more. Click the links below for the full activity! Online Accredited CME/NCPD Activity: https://www.i3health.com/course-information/exploring-new-treatment-advances-for-acid-sphingomyelinase-deficiency-in-adults Live or Virtual Meeting Series: https://www.i3health.com/live/exploring-new-treatment-advances-for-acid-sphingomyelinase-deficiency-in-adults-1

Shruti Mitkus is the Director of Genetic Education and Navigation at Global Genes, a leading rare disease patient advocacy organization. Shruti is a human molecular genetics scientist and genetics educator. She earned her doctorate in Human Genetics from University of Maryland Baltimore and completed her post-doctoral training at the National Institute of Mental Health, researching the genetic mechanisms of neuropsychiatric conditions such as schizophrenia and bipolar disorder. After working in many different areas related to genetics, such as basic research, pharmacogenomics, genetic diagnostics, and variant interpretation, Shruti felt driven to engage more closely with patients and communities. She transitioned to patient advocacy and now directs programs that inform families about the molecular genetic causes of their illness, guide them through the diagnostic process and educate them about gene-based treatments, work that she describes as “genetic advocacy”. While Shruti loves the science of genetics, she is most passionate about translating her knowledge of genetics in an approachable manner and addressing barriers to access genetic testing and cutting-edge treatments. She is an ardent believer in the power of education to empower and ultimately improve the lives of patients and families. Shruti can be reached at https://www.linkedin.com/in/shruti-mitkus-rarediseasegenetics/

In this special replay, we revisit the riveting conversation with Dr. Stephan Züchner, a beacon of hope in the realm of genetic research for Charcot-Marie-Tooth (CMT) disease. As the chair of the Department of Human Genetics at the University of Miami Miller School of Medicine, Dr. Züchner has been at the forefront of groundbreaking discoveries that have the potential to transform the lives of those affected by CMT.This episode sheds light on Dr. Züchner's journey from the vibrant streets of Berlin to the cutting-edge labs of Duke University and beyond. His relentless pursuit of understanding the genetic underpinnings of CMT has led to the identification of critical mutations, opening new avenues for targeted therapies.Dive into an engaging discussion that spans the discovery of the SORD gene mutation, offering a glimmer of hope for a significant subset of CMT patients, to the innovative approaches in gene therapy that are on the horizon. Dr. Züchner's work not only illuminates the complex genetic landscape of CMT but also underscores the power of collaboration and data sharing in the scientific community.As we re-examine this enlightening dialogue, join us in celebrating the strides made in genetic research and the ongoing quest to unravel the mysteries of CMT. For those who wish to support this vital research and the broader CMT community, please consider visiting CMTA USA.For more information about CMT and to support the CMTA, please visit www.cmtausa.org

Join Rob B, Gianni Storm, and Nio Nyx on a captivating journey through the echoes of our ancestors in 'Genetic Echoes: Can Memories Be Inherited?' Dive into the intriguing world where science and legacy intertwine, exploring the groundbreaking idea that our DNA carries more than just physical traits—it may also hold the memories of those who came before us. From the mysterious realms of genetic memory to the heartwarming stories of inherited experiences, our hosts unravel the scientific truths and speculative myths surrounding the memories encoded in our genes. Whether it's a tale passed down through generations or the scientific evidence that supports these theories, Rob, Gianni, and Nio bring their unique perspectives and insights to the table. Get ready to be enthralled by their discussions on how these inherited memories impact our identity, the connection to our ancestry, and the possibility of possessing recollections from a past we never lived. 'Is this the key to understanding our deepest selves, or merely a genetic whisper from history?' Tune in to discover—is this truth, lies, or shenanigans?Support the showPODZnetwork.com TLSShow.com

Welcome to the first episode of DNA Dialogues! Today is February 29th, 2024. It is a leap year, so today marks an extra special rare disease day.    Rare diseases can impact so many people - from patients themselves, to families, to broader communities. To celebrate rare disease day, we are going to dive into two recent articles from the Journal of Genetic Counseling that showcase the rare disease experience. The following interviews provide insight into the wider impact of rare disease, with a special focus on families.   Segment 1: “Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings”   Dr. Catherine Larson joins us in the first segment to talk about her recent article titled, “Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings”.    Dr. Catherine Larson is a Child and Adolescent Psychiatrist and a sibling to Elizabeth, who has a Chromosome 18 deletion. After earning her undergraduate degree, she worked as a research assistant at the Chromosome 18 Research Center, where she began her research on Sibling relationships. Dr. Larson earned her Medical Degree from the University of Texas School of Medicine at San Antonio. She then went on to complete a General Psychiatry Residency Program, followed by a Fellowship in Child and Adolescent Psychiatry at The University of Texas at Austin, Dell Medical School. As a practicing psychiatrist, she opened her private practice in Austin, Texas, and she also returned to join the research team at the Chromosome 18 Research Center.   Dr. Catherine Larson is double Board Certified by the American Board of Psychiatry and Neurology in General Psychiatry and Child and Adolescent Psychiatry. Dr. Larson earned her Medical Degree from the University of Texas School of Medicine at San Antonio. She then went on to complete a General Psychiatry Residency Program, followed by a Fellowship in Child and Adolescent Psychiatry at The University of Texas at Austin, Dell Medical School. In addition to her private practice, she is currently an Adjunct Assistant Professor at The University of Texas Health School of Medicine at San Antonio.  Segment 2 “Families' experiences accessing care after genomic sequencing in the pediatric cancer context: ‘It's just been a big juggle'”   Authors Sarah Scollon and Blake Vuocolo talk about their recent Journal of Genetic Counseling paper in the pediatric cancer space.    Sarah Scollon is an Assistant Professor in the Department of Pediatrics at Baylor College of Medicine and certified genetic counselor for the Texas Children's Hospital Cancer Genetics and Genomics Program. She has served in dual clinical and research roles across the course of her career. Her research interests engage the overarching themes of (1) adaptation of genetic counseling practice to implement evolving technologies (2) optimization of patient-provider communication and education and (3) equity and inclusion for diverse populations in genetic medicine and research. Ms. Scollon has had a longstanding dedication to the care of children and families affected by cancer. She is an advocate for including genetic counseling into pediatric cancer care. She works to educate others on the role genetics and genomics can play in the care of patients with pediatric cancer and their families both from a clinical and psychosocial standpoint.   Blake Vuocolo is a certified research genetic counselor in the Department of Molecular and Human Genetics at Baylor College of Medicine. She graduated from the Baylor College of Medicine Genetic Counseling Program in 2022, and her thesis work focused on access to follow-up hereditary cancer care in underserved pediatric populations through the KidsCanSeq study. Currently, her work focuses on exome and genome sequencing of medically underserved populations with undiagnosed diseases throughout Texas. Ms. Vuocolo is passionate about finding sustainable ways to improving genomic health equity worldwide. Her interests include exploring access barriers to receiving genomic care in different healthcare contexts and improving genetics education for non-genetics healthcare providers in under resourced regions of the country and beyond.   Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.    For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.    Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.    DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. 

GDP Script/ Top Stories for Feb 7th   Publish Date:  Feb 6th   From the Drake Realty Studio Welcome to the Gwinnett Daily Post Podcast. Today is Wednesday, February 7th and Happy 61st Birthday to country singer Garth Brooks. ***02.07.24 – BIRTHDAY – GARTH BROOKS*** I'm Bruce Jenkins and here are your top stories presented by Gwinnett Public Schools. High-Speed Tragedy: Trooper and Motorcyclist Involved in Fatal Crash at Over 140 MPH Research Suggests Link Between Dementia, Air Pollution, and Sedentary Lifestyle Revolutionary Weight Loss Drug Could Also Help Manage Blood Pressure in Overweight Individuals Plus, my conversation with Leah McGrath from Ingles Markets on sugar in cereals. All of this and more is coming up on the Gwinnett Daily Post podcast, and if you are looking for community news, we encourage you to listen daily and subscribe! Break 1: GCPS LIVE READ   ***GCPS READ*** Hey, Gwinnett County! Don't forget to mark your calendar for the GCPS Teacher Job Fair in just 3 days! Join us on February 10th at 8am at the Gas South Convention Center. This is a golden opportunity to be a part of Gwinnett County Public Schools - Georgia's largest school district and a top employer recognized by Forbes. Whether you're kick-starting your career or seeking a change, your passion for education could find its perfect home with us. Say 'yes' to GCPS, where passion meets opportunity! STORY 1: Fatal Crash Involving Trooper and Motorcyclist Exceeded Speeds of 140 MPH Gerson Danilo Ayala Rodriguez, a 21-year-old from Norcross, led a Georgia State Trooper on a high-speed chase exceeding 140 mph on his motorcycle on January 28, causing the trooper, Jimmy Cenescar, to lose control of his patrol car and crash, resulting in his death. Rodriguez, who lacked a driver's license and a valid license plate, has been arrested and charged with murder, vehicular homicide, and several other offenses. The Georgia Department of Public Safety worked diligently to investigate the incident. Trooper Cenescar, 28, was a recent graduate of Georgia Gwinnett College and had joined the department in January 2023. Visitation and funeral services for Cenescar will be held later this week. STORY 2: Laziness and air pollution largely to blame for dementia: study A new study suggests that dementia, including Alzheimer's disease, was extremely rare in ancient times, with modern lifestyles and environments largely to blame for its prevalence today. Analysis of ancient Greek and Roman texts reveals few mentions of cognitive decline comparable to Alzheimer's. As Roman cities grew denser, pollution increased, possibly driving up cases of cognitive decline. Additionally, Roman aristocrats' use of lead in cooking vessels and water pipes may have contributed to neurotoxicity. Modern-day Tsimane Amerindians, living a physically active lifestyle, have extremely low rates of dementia, highlighting the influence of modern environments on the condition. These findings suggest that lifestyle factors, such as sedentary behavior and pollution exposure, play a significant role in the rise of Alzheimer's disease.   STORY 3: New weight loss medication could lower blood pressure in obese adults A new weight loss medication, tirzepatide, has shown promise in lowering blood pressure in obese adults, according to a study published in the American Heart Association journal Hypertension. The medication significantly reduced systolic blood pressure, a strong predictor of cardiovascular death, in nearly 500 severely overweight adults. Tirzepatide works by mimicking metabolic hormones that regulate insulin secretion and sensitivity, leading to weight loss by reducing appetite and slowing down digestion. Participants taking tirzepatide experienced average reductions in systolic blood pressure of 7.4 mm Hg to 10.6 mm Hg, alongside significant weight loss. Lead author Professor James A. de Lemos noted the potential of tirzepatide in preventing or treating high blood pressure, but emphasized the need for further research to confirm these findings and understand long-term effects on cardiovascular health.   We have opportunities for sponsors to get great engagement on these shows. Call 770.874.3200 for more info. We'll be right back Break 2: TOM WAGES   STORY 4: Possible new treatment for rare disorder that causes babies to have extra fingers and toes Researchers at the University of Leeds may have discovered a treatment for a rare disorder causing extra fingers and toes, along with other birth defects, autism, and a large head circumference. The disorder currently has no treatment, but the research identified a molecule that could potentially treat neurological symptoms and prevent further deterioration. The drug is already in clinical trials for another disorder, expediting the process if found effective. Dr. James Poulter emphasized the importance of such research for patients and families facing years of uncertainty. The disorder stems from a genetic mutation in the MAX gene, identified through a study published in the American Journal of Human Genetics. Further research will explore the treatment's effectiveness and its potential to improve symptoms caused by the mutation. STORY 5: Adversity early in life can cause kid's brains to develop too fast A new study suggests that children exposed to early life adversity (ELA) undergo accelerated brain development during preschool years, potentially leading to negative health outcomes later in life. Researchers from A*STAR's Singapore Institute for Clinical Sciences studied 549 children, tracking brain development via MRI scans at ages 4.5, 6, and 7.5 years. They found that ELA is linked to accelerated brain development between ages 4.5 and 6, likely a protective response. However, this can shorten the window for adaptive learning and neuroplasticity, with implications for cognitive and mental health. Dr. Tan Ai Peng emphasized the importance of early intervention during this critical period to mitigate adverse effects. The study was published in the journal Nature Mental Health.   Break 3:  INGLES 5   STORY 6: LEAH MCGRATH And now here is my conversation with Leah McGrath from Ingles Markets on sugar in cereals.   STORY 7: LEAH MCGRATH ***LEAH MCGRATH INERVIEW***   We'll have final thoughts after this.   Break 4:   Signoff – Thanks again for hanging out with us on today's Gwinnett Daily Post podcast. If you enjoy these shows, we encourage you to check out our other offerings, like the Cherokee Tribune Ledger Podcast, the Marietta Daily Journal, the Community Podcast for Rockdale Newton and Morgan Counties, or the Paulding County News Podcast. Read more about all our stories and get other great content at Gwinnettdailypost.com. 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It's been another year of major growth in the women's health innovation industry. In this annual end of year review with our host, Dr. Brittany Barreto, we cover the major trends, wins, and challenges faced in 2023. We discuss societal shifts affecting our industry, review last year's predictions and see if they materialized, and make predictions for 2024. We look at the key industry influencers of 2023, investments, organizations, conferences, exits, startups that all shined this year and highlight ones to watch in 2024.We loved doing this episode to wrap up an incredible year for the podcast! Thank you for sticking with us throughout 2023, we can't wait to talk more about women's health innovation in 2024!Remember to like, rate and subscribe and enjoy the episode!Host bioDr. Brittany Barreto is a passionate advocate for advancing female health and wellness innovation. With a focus on building awareness, catalyzing investment and innovation, and providing data-driven insights and strategic advice, Dr. Barreto works tirelessly to positively impact women's lives.After earning her doctorate in Molecular and Human Genetics from Baylor College of Medicine, Dr. Barreto became a serial entrepreneur, most notably known for founding Pheramor, the world's first DNA-based dating app. She also served as a senior venture associate at Capital Factor and co-founded Coyote Ventures, gaining valuable experience in the investment space.Today, Dr. Barreto is a leading voice in the FemTech community. She hosts the FemTech Focus podcast, is a FemTech Forbes contributor, and founded FemHealth Insights, a boutique consulting firm with market research software specializing in women's health innovation.Episode SponsorGood Clean LoveWhen my vagina is feeling a little off–like a little out of balance–I go for Good Clean Love's Restore Moisturizing Vaginal Gel. It's made to help with vaginal dryness, itching and unusual odor; so it's my go-to before I feel like I should make a doctor's appointment. And I feel comfortable using it, because of their Bio-Match Technology. Good Clean Love's patented Bio-Match Technology taps into three factors that can maintain a healthy vaginal microbiome; which are osmolality, a healthy vaginal pH range and lactobacilli. Good Clean Love's products are iso-osmolar to help you retain moisture and not strip any away. They have a pH range of 3.5 to 4.5 so their products match your vaginal pH range. And they contain lactic acid to help maintain a healthy vaginal biome. Holiday travel and stress always throws me a little out of whack, so if you're like me, make sure to get yours before you travel! 10% off your first order using promo code FemTech. Shop products that are made to match your vaginal biome at goodcleanlove.com.FemTech Focus Podcast bioThe FemTech Focus Podcast is brought to you by FemHealth Insights, the leader in Women's Health market research and consulting. In this show, Dr. Brittany Barreto hosts meaningfully provocative conversations that bring FemTech experts - including doctors, scientists, inventors, and founders - on air to talk about the innovative technology, services, and products (collectively known as FemTech) that are improving women's health and wellness. Though many leaders in FemTech are women, this podcast is not specifically about female founders, nor is it geared toward a specifically female audience. The podcast gives our host, Dr. Brittany Barreto, and guests an engaging, friendly environment to learn about the past, present, and future of women's health and wellness.FemHealth Insights bioLed by a team of analysts and advisors who specialize in female health, FemHealth Insights is a female health-specific market research and analysis firm, offering businesses in diverse industries unparalleled access to the comprehensive data and insights needed to illuminate areas of untapped potential in the nuanced women's health market.Organizations featured (in alphabetical order):AIVF, Amboy Street Ventures, Aveta Medical, BD, Cranberry, Daye, Ema, Essence, Evvy, FathomX, FemTech Association Asia, FemTech Canada, FemTech France, FemTech India, Fermata, HERA Biotech, Hertility, HLTH, HyIvy Health, iSono Health, kegg, Magee Women's Institute,MedFemTech Congress, Midi Health, Milkify, MiM Fertility, MobileODT, Mosie Baby, National Institutes of Health (NIH), Rosy, Unfabled, Vitala Globa, We Seek Care, Women of Wearables, Women's Health Innovation Summit (WHIS)Individuals featured (in order of feature):Rachel Bartholomew, Susan Stover, Lindsay Davis, Navneet Kaur, Oriana Kraft, Valentina Milanova, Gila Tolub, Jamie White, Joanna Strober, Priyanka Jain, Dr. Helen O'Neill, Dr. Natalie Getreu, Deirdre O'Neill, Carli Sapir, Hannah SamanoEpisode ContributorsDr. Brittany BarretoLinkedIn:  @Brittany Barreto, Ph.D.Twitter: @DrBrittBInstagram: @drbrittanybarreto FemTech Focus PodcastWebsite: https://femtechfocus.org/LinkedIn: https://www.linkedin.com/company/femtechfocusTwitter: @FemTech_FocusInstagram: @femtechfocus FemHealth InsightsWebsite: https://www.femhealthinsights.com/LinkedIn: @FemHealth Insights ResourcesFemHealth Insights DatabaseFemHealth Insights Mentor NetworkFemHealth Insights Slack CommunityFemHealth Insights Deals Newsletter - Investor SignupFemHealth Insights Investor Newsletter - Founder/CEO Deal Submission FormAI Breast Cancer ArticleSilicon Valley Bank Report on Women's Health

On today's show, Dr. David Richards discusses the mRNA vaccine from the perspective of a doctor who graduated with an Honours Degree in Human Genetics and Immunology. Later, Dijana Dragomirovic discusses the new mRNA Cancer Vaccine and Australian Medical Network's plan for a Healthy Australia. What can be done to combat these issues, and what are the solutions you foresee working in 2024? GUEST 1 OVERVIEW: Dr. David Richards is an Australian General Practitioner and an Adjunct Professor at an Australian University in the faculty of medicine. He is also a founder of Australians for Science and Freedom. Dr. Richards graduated from London University in 1984, having also completed an Honours Degree in Human Genetics and Immunology. He has peer-reviewed papers for a major European Journal and has presented at International Conferences on Genetics and Carotid Ultrasound. GUEST 2 OVERVIEW: Dijana Dragomirovic is the CEO of Australian Medical Network, Australia's fastest-growing health network.  

Data-backed decision-making is crucial in healthcare, but it can often be challenging, especially for rural hospitals with limited resources. However, from this week's conversation on Rural Health Leadership Radio, we learned that using, analyzing, and understanding community health data is more than achievable for rural hospitals.  Join us this week as we engage in a conversation with Liz Craker, Health Systems Support Coordinator for the Office of Primary Care and Rural Health within the Utah Department of Health and Human Services, and John Wadsworth, Co-Founder of REDiHealth. We discuss how leveraging data to understand patient populations can help increase access to care and manage care gaps in rural areas. Liz and John discuss the importance of their collaboration with each other and the rural hospitals they serve. We also delve into the exciting aspects of rural health, including fast-paced innovation, creativity, and how they are assisting rural hospitals in using data to support these efforts. “The cadence and amount of innovation in rural areas is staggering to when people understand and trust their data.” -John Wadsworth Liz Craker serves as the Health Systems Support Coordinator for the Office of Primary Care and Rural Health at the Utah Department of Health and Human Services. She earned her BA in Journalism from Franklin College and her MBA in Healthcare Administration from Indiana Wesleyan University. She has over 30 years of leadership, project management, non-profit management, grant writing, public relations, patient advocacy, and health equity experience. She previously worked in a Federally Qualified Health Center advocating for insurance enrollment and health literacy before coming to the Utah Department of Health and Human Services. John Wadsworth is a co-founder at REDiHealth where he helps healthcare institutions to turn data into actionable assets. He is skilled at designing and implementing analytic strategies resulting in operational, clinical, and financial improvements. His passion for the healthcare industry stems from helping communities leverage data to improve community health with the desired result of strengthening the overall quality of life. John earned his Bachelor of Science in Human Genetics from The University of Utah and his Master of Science in Biomedical Informatics from the University of Utah School of Medicine.