Podcasts about Human genetics

Nicola Longo MD, PhD, and Mark Roberts, MD Nicola Longo MD, PhDProfessor and Vice Chair of Human Genetics,Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,Division of Clinical Genetics, Department of Human Genetics,University of California at Los Angeles (UCLA), Los Angeles, CA, USAMark Roberts, MDProfesor and Consultant Neurologist,University of Manchester, Manchester, UKResearch Lead for Adult Metabolic Medicine at Salford Care Organisation, Manchester, UKDrs. Longo and Roberts discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025 and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice.The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Roberts will discuss vectors, different strategies, modes of administration and targets in gene replacement therapies.Mark Roberts, MDNow in the broader sense, gene replacement therapy seeks to actually deliver genetic material directly into the host cell to influence gene expression. In the most simple idea, one of course has a vector, this is most commonly but not exclusively a virus, which can then be given intravenously for example, and can hope to potentially correct the condition within the individual cells using novel transgenes. Suitable candidate conditions for this as examples of genetic conditions are now well understood. And crucially, this applies not only towards some more recessive, but dominant and even accident conditions.Across the piece, one can see for example, mitochondrial problems, spinal muscular atrophy as is well known, X-linked myotubular myopathy, Duchenne muscular dystrophy, a very common condition affecting one in 3000 male individuals, Pompe disease of course, an important focus of the meeting here, but other very common conditions, for example, cystic fibrosis, immunological conditions and perhaps obviously very crucial in early work on gene therapy, hemophilia.Let's now think about the approaches to gene therapy. One can seek to work at the DNA level and gene replacement. In essence, one is trying to put a new transgene through into the nucleus that will ultimately be transcribed and translated and produce the important functional protein that is lost. Gene editing which is a very exciting new technology or CRISPR technology actually seeks to actually modify in vivo the actual mutations that are responsible for the pathogenic production of abnormal proteins and correcting these and actually producing a more normalized protein.But of course there are also RNA approaches where one seeks to actually repair the mRNA transcripts copied from the mutated gene. For example, this may be a novel approach that could be extremely useful in myotonic dystrophy, a multisystem condition. When we talk about the viral vectors, predominantly we're talking about viruses. Those such as adenoviruses and AAV viruses which have the virtue of not integrating into the host genome or at least not in a large amount, and those which deliberately seek to integrate into host genome such as retroviral or lentiviral systems that may be particularly useful for ex vivo systems.There are of course other ways to get genetic payloads into the nucleus, various polymers, nanoparticles and even cell penetrating peptides. Nanoparticles in particular is certainly on the ascendant. That being said, in a recent review of the clinical trials in gene therapy, it was certainly the viral vectors that stood out both in direct gene replacement with lentivirus and AAV, but also actually as delivery systems, for example, for gene editing. An example of what one is seeking to do with AAV, so of course one seeking to remove the native DNA, insert the new transgene directly into the vector and of course keen to make sure that there's a high transmission into the capsid producing a recombinant AAV, which then can be given as a treatment and hopefully produce a therapeutic increase in the functional protein that is deficit in the disorder.In the next part, Dr. Roberts will discuss immune responses and other safety concerns related to gene therapies.

Nicola Longo MD, PhD, and Mark Roberts, MDNicola Longo MD, PhDProfessor and Vice Chair of Human Genetics,Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,Division of Clinical Genetics, Department of Human Genetics,University of California at Los Angeles (UCLA), Los Angeles, CA, USAMark Roberts, MDProfesor and Consultant Neurologist,University of Manchester, Manchester, UKResearch Lead for Adult Metabolic Medicine at Salford Care Organisation, Manchester, UKDrs. Longo and Roberts discuss the current status of gene therapies in rare neuromuscular disorders in this 8-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th-7th 2025 and is intended for healthcare professionals only.This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses.The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Roberts will discuss immune responses and other safety concerns related to gene therapies.Mark Roberts, MDUndoubtedly, the immune system is a major issue in these patients. It would be fantastic if we could immunotolerize our patients and indeed prevent the rejection of the therapy. We've talked about the fact that these are viral vectors and of course there may be high seroprevalence of antibodies to these viral vectors, and it's very important in the pre-screening of patients who might be eligible to understand that at the beginning. These of course can have developed over the years and of course can be part of immunological memory and therefore extremely difficult and probably impractical to actually shift.On giving the treatment though as I think we're all aware there is this problem of the innate immunity and potential therefore for acute toxicities and then a learned or adaptive response with cytotoxic T cells and antibodies which may of course become high tighter neutralizing antibodies and potentially antibodies not only against the viral vector, even the functional protein, even the transgene are all theoretical possibilities with time. The capsid, the transgene, and even the protein product can all potentially induce an immunological event. Of course, all of these would lead to both potential patient changes and then a lack of efficacy of the treatment.Indeed, there have been some serious and indeed fatal problems in the gene therapy development program as I think we're all aware. Though many of these are thankfully been overcome. Spinal muscular atrophy has a gene therapy which is licensed, but there were early patients who actually had significant problems. A patient of just 6 months of age who developed kidney failure, two other patients who actually developed liver failure.In Duchenne muscular dystrophy, a very common condition, again there were significant issues and crucially in these patients who all have cardiomyopathy, it was heart failure and cardiac arrest that were big concerns and pulmonary edema and this was seen even with a CRISPR-based technology and is perhaps is best known but has been addressed the excellent myotubular myopathy patients, four patients died and crucially quite a long time after the gene therapy emphasizing the need to monitor these patients extremely carefully and these patients died of cholestatic liver failure albeit that they had a degree of liver dysfunction.That's changed our screening of course of patients, we're now all looking in myotubular patients for liver involvement and Rett syndrome as well. Now these immunoprophylaxis treatment regimes to hopefully try and reduce the immunological reaction against the gene are certainly evolving.This is just a summary of some of the other immunosuppressive regimes used in other disorders, for example, spinal muscular atrophy, but Pompe and MPS as examples of LSDs. Certainly these regimes will continue to evolve and are going to be very important in seeking to make sure that these treatments are effective. It reminds me somewhat of what's happened with enzyme replacement therapy that the use of these immunological strategies in infants has revolutionized the utility of those treatments in early patients.In the next part, Dr. Roberts will discuss lessons learned from gene therapy trials.

Nicola Longo MD, PhD, and Mark Roberts, MDNicola Longo MD, PhDProfessor and Vice Chair of Human Genetics,Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,Division of Clinical Genetics, Department of Human Genetics,University of California at Los Angeles (UCLA), Los Angeles, CA, USAMark Roberts, MDProfessor and Consultant Neurologist,University of Manchester, Manchester, UKResearch Lead for Adult Metabolic Medicine at Salford Care Organisation, Manchester, UKDrs.Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025 and is intended for healthcare professionals only.This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas.In this part, Dr. Roberts will discuss lessons learned from gene therapy trials.Mark Roberts, MDWhen we think about the challenges of actually doing clinical trials with these gene therapies, there's a huge development stage in terms of picking the right viral vector with the right surface receptor. That's a major piece of work. That can often take years. The preclinical work is obviously very important as indeed is understanding the natural history because it's really not practical to do placebo-controlled trials of gene therapies.In contrast to other studies, when we turn to phase 1 and phase 2, you'll notice that the patient numbers are often quite small. One is having to think carefully about surrogate measurements of response. Especially when in phase 3 studies, we may be thinking about withdrawing the existing, for example, enzyme replacement therapy because we believe the gene therapy will then be effective.That's just a few snapshots of where we've come and there's a lot more work to be done.In the next part, Dr. Longo will discuss the current treatment landscape and limitations in lysosomal disorders.

Nicola Longo MD, PhDProfessor and Vice Chair of Human Genetics,Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,Division of Clinical Genetics, Department of Human Genetics,University of California at Los Angeles (UCLA), Los Angeles, CA, USAMark Roberts, MDProfessor and Consultant Neurologist,University of Manchester, Manchester, UKResearch Lead for Adult Metabolic Medicine at Salford Care Organisation, Manchester, UKDrs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight part podcast series. This is derived from the symposium that was presented at World Symposium 2025, in San Diego, California, on February 4th through 7th, 2025, and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established, and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Longo will discuss gene replacement therapy in lysosomal disorders.Nicola Longo MD, PhDLet's go back a second to gene therapy. Gene therapy obviously has the potential of answering many of the questions that we still have open in lysosomal disorder because they could restore the activity of the lysosome pretty much in the whole body, or at least in multiple tissues. As you have seen, gene therapy can be done ex vivo where we take cells from the affected patient, we correct the gene, or we put an extra gene that it is functional. Then we put them back by doing a bone marrow transplant, basically creating space for the cells that have been genetically modified to correct the lysosomal defect. The biggest approach this is done usually by lentiviruses that they integrate inside the genome.

Nicola Longo MD, PhDProfessor and Vice Chair of Human Genetics,Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,Division of Clinical Genetics, Department of Human Genetics,University of California at Los Angeles (UCLA), Los Angeles, CA, USAMark Roberts, MDProfessor and Consultant Neurologist,University of Manchester, Manchester, UKResearch Lead for Adult Metabolic Medicine at Salford Care Organisation, Manchester, UKDrs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025, and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Longo will discuss ongoing gene therapies in lysosomal disorders.Nicola Longo MD, PhDI'm going to present to discuss some example of ongoing gene therapy for lysosomal disorder. There are gene therapy in development for both Fabry disease and some of this involve ex vivo gene therapy, many others involve systemic administration with an AAV, Gaucher disease type 1 that affect the periphery, and Gaucher disease type 2, where the replacement should occur within the central nervous system because this condition affects the brain. There is already one approved gene therapy for lysosomal disorder, which is for the early onset metachromatic leukodystrophy. This has been approved both in Europe and now even in the United States, which consists of ex vivo gene therapy with the administration of an extra gene that restore the function of the defective enzyme. Now there are many others that are ongoing for the same indication. There are gene therapy programs for GM1 and GM2 gangliosidosis, and at least one for Krabbe disease. It is important to know that some of these condition are actually included in the recommended uniform screening panel. Basically, we would have access to patients in a timely manner for some of these conditions. Then there are several gene therapy under development for the mucopolysaccharidoses, including MPS-IH, MPS-II, MPS-IIIA and MPS-IV.There are different type of lysosomal disorders, the one caused by mutation, integral membrane protein, not enzyme within the lysosome, but protein that are present on the membrane of the lysosome. This gene therapy that have been tested, it is for cystinosis, that it is caused by a defective lysosomal and for Danon disease, which is caused by a deficiency of an integral membrane part. Finally, one lysosomal disorder, which obviously seems a metabolic condition, but it is really not, is glycogen storage disease type 2 or Pompe disease, in which there is the intralysosomal accumulation of glycogen. There are several ongoing clinical trials to try to correct the problem in this condition.Now, I'm going to discuss some of the most advanced program in the lysosomal storage disorder. This include one for Fabry, which is on an accelerated approval pathway with phase 1 and 2 data, one for Gaucher disease type 1. Obviously, I'm going to discuss the one that has been already approved for metachromatic leukodystrophy. There is one for Hunter syndrome, and the difference of the one for Hunter syndrome, it is an example of the direct administration of gene therapy within the central nervous system.Finally, there is one ongoing for glycogen storage disease type 2 or Pompe disease in adult patients. In gene therapy for metachromatic leukodystrophy, it was the first gene therapy approved for lysosomal disorder in human, and this requires harvesting the CD34 cell from affected patient and then introducing the [inaudible 00:04:32] gene back in this cell, and then placing them back inside the patient again. This has been very effective in patients who were treated early, and obviously, the treatment needs to occur before there is irreversible brain damage in this patient.In the next part, Dr. Roberts and Longo will discuss treatment with gene therapies.

Nicola Longo MD, PhDProfessor and Vice Chair of Human Genetics,Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,Division of Clinical Genetics, Department of Human Genetics,University of California at Los Angeles (UCLA), Los Angeles, CA, USAMark Roberts, MDProfessor and Consultant Neurologist,University of Manchester, Manchester, UKResearch Lead for Adult Metabolic Medicine at Salford Care Organisation, Manchester, UKDrs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025, and is intended for healthcare professionals only.This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established, and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses.The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas.In this part, Dr. Roberts will discuss lysosomal disorders and the potential for gene therapies.Mark Roberts, MDI'm going to give an overview of what is gene therapy, emphasizing the current challenges and the development issues and needs that there will be as we try and enable gene therapy for our patients, particularly those with lysosomal storage disorders.I'm going to try and make a case for why lysosomal storage disorders are an extremely good group of conditions for the potential benefits of gene modifying therapies. Firstly, whilst we all recognize that these conditions are inherently individually rare, they're certainly severe. Collectively, with over 70 LSD disorders, 1 in 5,000 may be afflicted by these conditions ultimately in their life and can be detected, for example, by newborn screening programs.Secondly, there's certainly a significant clinical burden with these patients with the current standard of care, so a large unmet need exists. Existing enzyme replacement therapies have undoubtedly changed the natural history of many of these conditions, but there are limitations and often initial benefits and later deteriorations.Unfortunately, for most lysosomal storage disorders, it's only symptomatic treatments and indeed, care that is available for these patients with no specific treatment. Thirdly, these conditions are extremely well-characterized, monogenic singleton and problems of inborn errors of metabolism. We know the functional protein that is deficient in these conditions. Because of that, and knowing that these are critical for lysosomal function, and using preclinical models, we can model the potential benefits of gene therapies very well in a number of systems, including, of course, soon, muscle chip experiments as well.Finally, with these conditions, they may potentially be really useful targets whilst not perhaps curing the condition, at least ameliorating the phenotype, and enabling the addition of other treatments as well, potentially. I've noted, some of these therapies can be directly delivered to certain tissues, so muscle tissue, which is my main interest, but also, crucially, the central nervous system, which is very important when we consider ameliorated phenotypes, for example, treated by enzyme replacement therapy, but where the children who become the adults have significant learning disability as a major component to their problems.In the next part, Dr. Roberts will discuss vectors, different strategies, modes of administration, and targets in gene replacement therapies.

Happy holidays listeners! With the year coming to an end, Cathy Gildenhorn, Beth Glassman, and our Executive Producer Kira Dineen have been reflecting back on a full three years of “It Happened To Me”. We've produced nearly 75 episodes and learned so much along the way. A good chunk of them have been exploring rare diseases and hearing people's journeys from early symptoms, to diagnosis, to treatment, and beyond. With this in mind, we want to revisit an episode that takes a more macro view on rare diseases.  If you're a long time listener of the show, you may know Kira Dineen is not only produces the show, but is also a practicing genetic counselor, so we thought it would be interesting to bring her in front of the mic in this episode to talk about how genetic counselors can help those in the rare disease community.    Genetic Counselor, and our podcast co-producer, Kira Dineen shares her insight on when to pursue genetic counseling and how genetic counselors can help people in the rare disease community. Co-producer Kira Dineen, MS, LCGC, CG(ASCP)CM has over a decade of podcast experience fueled by a passion for science communication. She has hosted and produced 7 podcasts. Her multi-award winning podcast, "DNA Today", is in the top 1% of podcasts globally. She was accepted into The Podcast Academy and has served as a Blue Ribbon Panelist for The Ambies. 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 and is a licensed certified genetic counselor currently practicing in Connecticut.  On This Episode We Answer: When should a person or couple consider genetic counseling? Is a referral required to see a genetic counselor? Does insurance cover genetic counseling for this? Is genetic testing done before the visit?  How many visits are we talking about? Do you ever suggest adoption as an option? When? How do you help people with genetic conditions? Why get tested at all? What have you learned from interviews with patients and rare disease advocates? Do you recommend joining rare disease advocacy groups? Why study rare diseases? What is CRISPR? How could this help treat…or even cure…genetic conditions?  You produce a rare disease podcast that focuses on nano rare diseases. What's a nano-rare disease? 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. Steve Holsonback is our media engineer and co-producer. DNA Today's Kira Dineen is our marketing lead and co-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. 

This episode brings together the science, the medicine, and the lived experience behind BRCA mutations.  Emily Goldberg, JScreen's Director of Genetic Counseling Services, breaks down what these mutations are, how they're inherited, and what the actual cancer risks look like. Dr. Melissa Frey, a GYN oncologist at Cornell who works closely with high-risk families, walks us through what happens after someone tests positive — from screening to risk-reducing surgeries to the big conversations around fertility and timing. We also hear from Heather Boussi, who shares her powerful story of living with both BRCA1 and BRCA2 mutations. She talks about diagnosis, surveillance, surgeries, and how this all shaped her family-building decisions. Lastly, we look at what BRCA means for men, how that journey differs, and why PGT can still be an option. If you or someone you love is navigating this, we close with places to turn for support: JScreen, Sharsheret, I Was Supposed To Have A Baby, and Stardust (links below). It's a mix of expertise, honesty, and heart — the kind of conversation so many people wish they had heard earlier, especially when faced with such difficult decisions.  Note: This episode is the 4th of a series of 5 that we are collaborating on with Jscreen in 2025.  Take a look at our previous three episodes here : Episode 157: Introduction to Genetics and Infertility Episode 166: Fragile X Syndrome: A Silent Factor in Infertility Episode 185: It's Not Just Her: Male Factor Fertility and Genetics Uncovered Resources: Genetics and Personalized Cancer Prevention Program Facing Our Risk Empowered (FORCE) Jewish Fertility Foundation Stardust Foundation Sharsheret JScreen More about Emily Goldberg: Emily Goldberg serves as the Director of Genetic Counseling Services at jscreen, where she is dedicated to helping individuals understand and manage their genetic health. With dual bachelor's degrees in biology and psychology from Brandeis University and a master's degree in Human Genetics from Sarah Lawrence College, Ms. Goldberg has been a certified genetic counselor since 2011. Prior to joining jscreen, she worked at Montefiore Medical Center in the Bronx, specializing in prenatal and cancer genetics. In addition to her role at jscreen, Ms. Goldberg is committed to education, serving as an Instructor at the Albert Einstein College of Medicine and adjunct faculty at Sarah Lawrence College, where she teaches and mentors future genetic counselors. Her expertise and dedication make her a key member of the jscreen team. Connect with JScreen: - visit their website here - check out their Instagram   More about Melissa Frey, MD: Dr. Melissa Frey is an Associate Professor of Obstetrics and Gynecology in the division of Gynecologic Oncology and the Director of the Genetics and Personalized Cancer Prevention Program at Weill Cornell Medicine / NewYork Presbyterian Hospital. Dr. Frey's clinical care and research focus on the management of individuals with hereditary cancer syndromes (e.g. BRCA1, BRCA2, Lynch syndrome) and strong family history of breast and gynecologic cancers. She performs gynecologic cancer risk-reducing surgeries and is the principal investigator on several large trials aimed at cancer prevention among high-risk individuals. Dr. Frey has presented her research at national and international meetings and has more than 130 publications in peer-reviewed scientific journals. Connect with Dr. Melissa Frey: - check out her Instagram - view the Genetics and Personalized Cancer Prevention Program website   More about Heather Boussi :  Heather grew up in Westchester, NY and now lives in Englewood, NJ with her husband and three children. Her personal experience with hereditary cancer risk and genetic testing has made her a passionate advocate for awareness, education, and empowerment in women's health. Grounded in faith and family, Heather shares her story to help others approach life's challenges with strength, perspective, and gratitude. Connect with Heather: - check out Heather's Instagram   Connect with us: -Check out our Website -Follow us on Instagram and send us a message -Watch our TikToks -Follow us on Facebook -Watch us on YouTube -Connect with us on LinkedIn

This week on the Unsupervised Learning Podcast, Razib talks to returning guest Alex Young of UCLA and Herasight. Trained originally as a mathematician, Young studied statistics and computational biology at the University of Cambridge before doing a doctorate in genomic medicine and statistics at the Wellcome Trust Centre for Human Genetics, University of Oxford, under Peter Donnelly. He also worked at deCODE Genetics in Reykjavik and at Oxford with Augustine Kong, developing methods in quantitative and population genetics. Razib and Young talk extensively about what we know about heritability and genomics in 2025, four years after their first conversation. In particular, they discuss what larger sample sizes, high-density genotype-arrays and whole-genome sequencing have told us about heritability and the ability to predict traits in individuals from their sequence. They discuss quantitative and behavioral traits like height, intelligence and risk of autism, and the differences between classical statistical genetical methods utilizing twins and modern molecular genomic techniques that attempt to fix specific physical markers as causal factors in characteristics of interest. In addition to his academic work, Young has also been consulting for the polygenic embryo-screening company Herasight, working on cutting-edge methods for genomic prediction in the context of in vitro fertilization. They dig deep into the new method Young and colleagues worked on that helps democratize embryo selection using genomics, ImputePGTA.

Episode 4: The future of human genetics and precision medicine Relebogile Mabotja speaks to Associate Professor Zané Lombard the Head of Division for Human Genetics about the future of human genetics and precision medicine. 702 Afternoons with Relebogile Mabotja is broadcast live on Johannesburg based talk radio station 702 every weekday afternoon. Relebogile brings a lighter touch to some of the issues of the day as well as a mix of lifestyle topics and a peak into the worlds of entertainment and leisure. Thank you for listening to a 702 Afternoons with Relebogile Mabotja podcast. Listen live on Primedia+ weekdays from 13:00 to 15:00 (SA Time) to Afternoons with Relebogile Mabotja broadcast on 702 https://buff.ly/gk3y0Kj For more from the show go to https://buff.ly/2qKsEfu or find all the catch-up podcasts here https://buff.ly/DTykncj Subscribe to the 702 Daily and Weekly Newsletters https://buff.ly/v5mfetc Follow us on social media: 702 on Facebook https://www.facebook.com/TalkRadio702 702 on TikTok: https://www.tiktok.com/@talkradio702 702 on Instagram: https://www.instagram.com/talkradio702/ 702 on X: https://x.com/Radio702 702 on YouTube: https://www.youtube.com/@radio702 See omnystudio.com/listener for privacy information.

When pain drags you down and sadness lingers—do you ever wonder which came first? Are you feeling depressed because of your migraines, or are migraines making you feel depressed?In this episode of The Migraine Heroes Podcast, we explore one of the most misunderstood and deeply intertwined relationships in chronic illness: the link between depression and migraine. Hosted by Diane Ducarme, who has helped hundreds of migraine heroes reconnect with their bodies and emotions, this episode blends Western neuroscience with Eastern medicine to reveal how pain and mood are not separate—but mirror each other at the deepest level.You'll discover:✨ Why depression and migraines are genetically connected — and how shared biology wires this emotional-pain loop✨ The three biological pathways that link the two — serotonin, inflammation, and stress response✨ What Eastern medicine teaches about transforming inherited tendencies (Jing, Prakruti) through lifestyle and rhythm✨ Simple daily steps to break the cycle — by calming your nervous system and nourishing both brain and moodIf you've ever felt like your migraines are stealing your light — and your sadness is making your pain worse — this episode will help you understand that they come from the same root.You are not broken; your brain is just asking for balance.And once you begin to address one, the other starts to heal too.References:Shared Genetic Roots of Migraine and Depression: A 2016 study in Twin Research and Human Genetics revealed that migraine and depression share overlapping genetic factors, suggesting that emotional pain and physical pain stem from the same biological foundation. Read the full study here.Inflammation and Mood Disorders: A 2019 article in Frontiers in Immunology showed that chronic inflammation can disrupt serotonin signaling, fueling both migraine attacks and depressive symptoms through shared immune pathways. Learn more here.Serotonin Dysfunction in Migraine and Depression: A 2022 study in Brain Sciences explained how low serotonin levels and receptor sensitivity connect emotional regulation and headache frequency, offering insight into the shared neurochemistry of pain and mood. Explore the research here.The Stress Response Connection: A 2010 paper in Current Pain and Headache Reports found that dysregulated stress hormones—particularly cortisol—can trigger both migraine attacks and depressive episodes, underscoring the need to calm the nervous system. Read more here.

Prof Nancy Segal discusses the power of nature and nurture, ethical issues behind the separation of twins and what twins tell us about human behaviour.

Fiyory Tzeggai Ghezae and Adenike Adebiyi in conversation with Dr Piyush Pushkar on the subject of their new paper “The association between experiences of racism and mental health on children and young people in the UK: rapid scoping review” published in BJPsych Open. Read the paper: https://doi.org/10.1192/bjo.2024.836 Authors: Fiyory Tzeggai Ghezae, Zonke Zungu, Ann John, Kadra Abdinasir, Kamaldeep Bhui, Adenike Adebiyi and Cathy Creswell Follow us on Twitter @TheBJPsych #BJPOpen Podcast transcripts available: bit.ly/3CXSijb Disclaimer: BJPsych Open is not responsible for statements made by podcast contributors. Unless so stated, the content of this podcast does not necessarily reflect the views of the Editor-in-Chief or the Royal College of Psychiatrists. Resources mentioned in the podcast: • https://respectprojectbristol.org/?page_id=158 • https://diana-award.org.uk/get-involved/campaigns/takeracismseriously • The Body Keeps The Score | Bessel van der Kolk, MD. • https://www.acesmatter.org/?gad_source=1&gclid=Cj0KCQjwhYS_BhD2ARIsAJTMMQZ9Rgvl7aDWzsrMhmF3v3hA2U6VGF-MnRHXXRPBK-mtEZjlXnNTfaoaAtuiEALw_wcB • Cultivating diversity as an ethos with an anti-racism approach in the scientific enterprise, Human Genetics and Genomics Advances, Volume 2, Issue 4, 2021,100052,https://doi.org/10.1016/j.xhgg.2021.100052

Science and History: Human Genetics, Eugenics and the NAZI SPECTRE: Forbidden

Send us a textToday's interview is one that I truly enjoy because it focuses on the patient's experience.  Meet Dan Drydock Shockley, a Navy veteran who served in Operation Desert Storm, Operation Enduring Freedom, and Operation Iraqi Freedom. At the age of 51, after a routine colonoscopy, Dan was diagnosed with Attenuated Familial Adenomatous Polyposis—quite a mouthful, indeed.  I will let Dan share the rest of his incredible story, as he is a gifted speaker. He serves as a live case presentation speaker for the Stanford School of Medicine's Molecular Foundations of Medicine course and the Stanford MS Program in Human Genetics and Genetic Counseling. Dan's story has undoubtedly impacted many individuals.  Patient experiences are crucial for healthcare professionals; they are at the heart of why we do what we do. You will hear about the many connections that Dan forged throughout his journey. As I have told him, there are no coincidences in life, only divine interventions, which you will witness today. Dan is also a master of acronyms and created one based on his experience: Always Forge Ahead with a Purpose. Brilliant. In the five-minute snippet: Army, Navy, Air Force or Marines? For Dan's bio, visit my website (link below).California FAP Awareness WeekContact The Conversing Nurse podcastInstagram: https://www.instagram.com/theconversingnursepodcast/Website: https://theconversingnursepodcast.comYour review is so important to this Indie podcaster! You can leave one here! https://theconversingnursepodcast.com/leave-me-a-reviewWould you like to be a guest on my podcast? Pitch me! https://theconversingnursepodcast.com/intake-formCheck out my guests' book recommendations! https://bookshop.org/shop/theconversingnursepodcast I've partnered with RNegade.pro! You can earn CE's just by listening to my podcast episodes! Check out my CE library here: https://rnegade.thinkific.com/collections/conversing-nurse-podcast Thanks for listening!

The first complete draft of the human genome was published back in 2003. Since then, researchers have worked both to improve the accuracy of human genetic data, and to expand its diversity, looking at the genetics of people from many different backgrounds. Three genetics experts join Host Ira Flatow to talk about a recent close examination of the genomes of 65 individuals from around the world, and how it may help researchers get a better understanding of genomic functioning and diversity.Guests:Dr. Christine Beck is an associate professor of genetics and genome sciences in the University of Connecticut Health Center and the Jackson Laboratory.Dr. Glennis Logsdon is an assistant professor of genetics and a core member of the Epigenetics Institute at the University of Pennsylvania.Dr. Adam Philippy is a Senior Investigator in the Center for Genomics and Data Science Research at the National Human Genome Research Institute at the NIH.Transcripts for each episode are available within 1-3 days at sciencefriday.com. Subscribe to this podcast. Plus, to stay updated on all things science, sign up for Science Friday's newsletters.

Scientific Sense ® by Gill Eapen: Prof. Sriram Sankararaman is Professor of Computer Science, Human Genetics, and Computational Medicine at UCLA. He is broadly interested in problems at the intersection of computer science, statistics, and biomedicine. Please subscribe to this channel:https://www.youtube.com/c/ScientificSense?sub_confirmation=1

Are you a woman leader or entrepreneur considering a career pivot, especially from academia to the dynamic startup world? Do you wonder how to navigate this transition, build crucial relationships, and drive innovation in a new industry? This episode of How Women Inspire addresses these very challenges, offering invaluable insights into making a successful leap and fostering meaningful connections.This week's episode 177 of How Women Inspire Podcast is about transitioning from academia to startups! In this episode of How Women Inspire Podcast, Grace Wei is sharing the importance of building relationships and maintaining connections with experts and mentors. and actionable steps you can take right now to build a team culture at your startup. Grace Wei has held the position of COO at Encellin since 2016. Prior to that, Grace worked as a biologist at UCSF from 2005 to 2015. Grace Wei has a Bachelor's Degree in Human Genetics from McGill University and a Ph.D. in Molecular and Cellular Biology from the University of Chicago. Grace also completed programs at Stanford University Graduate School of Business and Y Combinator.Some of the talking points Julie and Grace go over in this episode include:Why building and maintaining strong relationships is paramount for founders and leadersThe unique benefits of different accelerators and how they can provide access to experts, community, and professional coaching for your startup journey.How transitioning from a specialized field like academia to a startup environment requires humility and a willingness to seek adviceThe importance of team culture for startup success, and how that differs from academia.What steps will you take today to cultivate your network and embrace new challenges?Thank you for listening! If you enjoyed this episode, take a screenshot of the episode to post in your stories and tag me!  And don't forget to follow, rate, and review the podcast and tell me your key takeaways!Learn more about How Women Inspire at https://www.howwomenlead.com/podcast CONNECT WITH GRACE WEI:LinkedInEncellinCONNECT WITH JULIE CASTRO ABRAMS:LinkedIn - JulieHow Women LeadHow Women InvestHow Women GiveInstagram - HWLLinkedIn - HWLFacebook - HWL

In today's episode, supported by Thermo Fisher Scientific, we had the pleasure of speaking with Apar Kishor Ganti, MD; and Allison Cushman-Vokoun, MD, PhD, FCAP, about the FDA approval of the Oncomine DX Express Test for use as a companion diagnostic for sunvozertinib (Zegfrovy) in EGFR exon 20 insertion mutation–positive non–small cell lung cancer and for use in tumor profiling. Dr Ganti is a professor in the University of Nebraska Medical Center (UNMC) Division of Oncology & Hematology, the Dr. and Mrs. D. Leon UMNC Research Fund Chair in Internal Medicine, and the associate director for Clinical Research at the Fred & Pamela Buffett Cancer Center in Omaha. Dr Cushman is the Henry F. Krous Professor of Pathology, a professor in the UNMC Department of Pathology, Microbiology and Immunology, director of the Division of Diagnostic Molecular Pathology and Human Genetics, medical director of the Molecular Diagnostics and Personalized Medicine Laboratory at Nebraska Medicine, director of the Molecular Genetic Pathology Fellowship Program, and associate director of the UMNC MD-PhD Scholars Program.  In our exclusive interview, Drs Ganti and Cushman discussed the significance of the launch of the Oncomine DX Express Test, the benefits and limitations of rapid next-generation sequencing, and features that set Oncomine DX apart from other available tests. 

It's Tuesday, June 24th, A.D. 2025. This is The Worldview in 5 Minutes heard on 140 radio stations and at www.TheWorldview.com.  I'm Adam McManus. (Adam@TheWorldview.com) By Kevin Swanson and Adam McManus Syrian suicide bomber A suicide bomber entered an Orthodox Church in Damascus, Syria on Sunday killing 22 people and wounding at least 63 others, reports ABC News. The ISIS terrorist group has claimed responsibility. No increased nuclear radiation levels after U.S. bombing in Iran The International Atomic Energy Agency reports no increase in off-site radiation levels at the three Iranian sites bombed by the United States and Israel. The neighboring Kuwait government has also confirmed that “no abnormal radiation levels have been detected in any of the member states.” The whereabouts of 400 kilograms of highly enriched Uranium in Iran is still a mystery. Israel bombed Iran's Evin Prison Israel continues its bombardment on Iran, including a bombing of the notorious Evin prison, where a number of Christians are held, and have been tortured over the last several decades. Trump: Israel & Iran agreed to cease-fire to end “12-Day War” On Monday, President Donald Trump announced that Israel and Iran had agreed to a cease-fire, declaring an end to what he referred to as “The 12 Day War,” reports The Epoch Times. In a Truth Social Post, Trump wrote,  “It has been fully agreed by and between Israel and Iran that there will be a Complete and Total CEASEFIRE … for 12 hours, at which point the War will be considered ENDED!” Both sides will wind down their final military operations within 12 hours, beginning what Trump expects to be “PEACEFUL and RESPECTFUL” on both sides. The conflict will be declared over within 24 hours. However, The New York Times indicated that there is no confirmation yet from Israel and Iran. Russia bombed Ukraine with 16 missiles and 352 drones The Russian army unleashed a heavy bombardment on Kiev, Ukraine yesterday involving 352 drones and 16 missiles, reports Reuters. At least 10 Ukrainians died in the attack. This follows another attack last week which killed 28 people.  Zelensky assassination plot foiled Ukrainian President Volodymyr Zelensky was the target of an assassination plot to be carried out by a Polish elderly man who had first been recruited by the Soviet Union decades ago, reports Newsweek. The man was activated to take out Zelensky at Poland's Rzeszów–Jasionka Airport using either a first-person view drone or a sniper rifle. The would-be assassin was a firm believer in Soviet ideology. The assassination plot was foiled by a joint effort of Ukraine's SBU, the main internal security agency, and the Polish internal security service known as ABW. Americans less isolationist Americans are moving away from isolationism according to a recent survey by the Ronald Reagan Institute. In the last three years, Americans who believe the United States should be more engaged in international events has seen a 24% increase. Specifically, 69% of Republicans, 64% of Democrats, and 73% of MAGA/Trump Republicans want to see more engagement internationally. A supermajority of Americans – 84% -- state their support for preventing the Islamic Republic from gaining access to nuclear weapons. Only 57% of Americans would agree with the statement that “the United States is better served by withdrawing from international events and focusing on problems here at home.” The major shift in American opinions on this has occurred since the November election.  Russia economy expanded by 4.3% last year Despite international pressures, the Russian economy expanded by 4.3% last year. This compares to a 1.1% bump for the United Kingdom, and a 2.8% bump for the U.S. economy last year. Supreme Court temporarily allows deportations to third countries In a 6-3 decision on Monday, the Supreme Court temporarily lifted a lower court order blocking the Trump administration from deporting illegal immigrants to so-called third countries to which they have no connection, reports The Epoch Times. The unsigned order came in the case known as Department of Homeland Security v. D.V.D. Michigan church shooting prevented   A heavily-armed man attempted a massacre at the Wayne, Michigan Crosspointe Community Church, reports CBS News. Thankfully, he didn't make it into the building. A parishioner rammed him with his truck, and the security team engaged him in the parking lot.  The suspect was pronounced dead when police arrived on the scene. One security guard took a shot in the leg. Based on national news sources, there are 1-2 church shootings per year in this country. That's 1 out of 380,000 churches.  Psalm 27:1-2 is always the right mindset. It says, “The Lord is my light and my salvation; whom shall I fear? The Lord is the strength of my life; Of whom shall I be afraid?  When the wicked came against me to eat up my flesh, my enemies and foes, they stumbled and fell.” Ohio pro-life legislators want to protect babies from conception Several Ohio legislators are floating a bill that outlaws the willful murder of a child from the point of conception. The "Ohio Prenatal Equal Protection Act,” introduced by state Representatives Levi Dean and Johnathan Newman, would overturn the 2023 referendum amendment that legalized abortion in Ohio.  In Psalm 22, the psalmist confesses, “You … took me out of the womb; You made me trust while on my mother's breasts. I was cast upon You from birth. from my mother's womb You have been my God.”  Older Americans more likely to have Biblical worldview George Barna's 2025 American Worldview Inventory report has been released and he concludes that only 1% of adults under 30 have a Biblical worldview. That compares with 5% for adults over 50, and 8% for adults over 65. Also, 69% of young Gen Z Americans believe abortion is morally acceptable. That's up from 60% for the Gen X and Boomer generations. Then, 73% of Gen Zers agree that sex outside of marriage is okay.  That's up from 59% with the Boomer Generation.  Fifth Circuit deems Louisiana Ten Commandments law unconstitutional The 5th U.S. Circuit Court of Appeals overturned Louisiana's law requiring the posting of The Ten Commandments in public schools, reports Courthouse News Service. The Louisiana law required schools which receive public funding to post a framed copy of The 10 Commandments in the classrooms. Observatory identified and photographed 10 million galaxies The Rubin Observatory, located in South America's Andes Mountain, has completed its first 10 hours of operation and identified 2,104 new asteroids never seen before, and photographed 10 million galaxies, reports the BBC. The observatory features a 28-foot telescope and an ultra-wide, ultra-high definition camera.  Sperm donor passed cancer gene to 67 children In other science news, a sperm donor in Europe has passed a cancer gene on to 67 children. Already, at least ten of the children have signs of cancer, all of them born between 2008 and 2015. The case was discussed at the annual conference of the European Society of Human Genetics. Dr. Edwige Kasper, a specialist in genetic predisposition to cancer at the Rouen University Hospital in Rouen, France, said, “The variant would have been practically undetectable in 2008 when the individual started to donate sperm.” U.S. housing prices spike Housing prices in the U.S. are still reaching record highs. The median price of homes sold last month was $423,000, up 1.3% from May of 2024. 7 Worldview listeners gave $2,828.30  to fund our annual budget And finally, toward our final $123,500 goal by Monday, June 30th to fully fund The Worldview annual budget for our 6-member team, 7 listeners stepped up to the plate. Our thanks to Nathan in Cleveland, Tennessee who gave $25, N.B. in Ripon, North Yorkshire, England who gave $30, and Logan and Bianca in Manzini, Eswatini, Africa who gave $70. And we're grateful to God for Gloria in  Westminster, Colorado who gave $103.30, Payton in Georgetown, Texas who pledged $50/month for 12 months for a gift of $600, Amy in Eldorado, Wisconsin who gave $1,000, and Pamela in Sierra Madre, California who also gave $1,000. Those 7 Worldview listeners gave a total of $2,828.30. Ready for our new grand total? Drum roll please.  (Drum roll sound effect) $65,401.55 (People clapping and cheering sound effect)  Still need to raise $58,098.45!  Looking for 9 Super Donors! That means by this coming Monday, June 30th, we need to raise a whopping $58,098.45 in just 7 days.  Oh my!  I've got butterflies in my stomach. Is there 1 businessperson who could donate $10,000?  3 businesspeople who could give $5,000?  5 businesspeople who could contribute $2,500? If so, those donations would total $37,500. Then we would need another 8 people to pledge $100/month for 12 months for a gift of $1,200.  And another 16 people to pledge $50/month for 12 months for a gift of $600? Please, go to TheWorldview.com and click on Give on the top right.  If you want to make it a monthly pledge, click on the recurring tab. If everybody does something – no matter how big or small – we will knock this relatively modest budget out of the park. Attention donors from this year: Send email urging others to donate! Lastly, I would love to feature a 2-3 sentence email from those who have already given this year, whose names I will not cite, with your encouragement for your fellow listeners to consider a last minute gift.  Just include your city and state send it to Adam@TheWorldview.com Speak from your heart about why you gave and why you would urge others to join you to fund The Worldview in 5 Minutes. Close And that's The Worldview on this Tuesday, June 24th, in the year of our Lord 2025.  Follow us on X or subscribe for free by Spotify, Amazon Music, or by iTunes or email to our unique Christian newscast at www.TheWorldview.com.  Plus, you can get the Generations app through Google Play or The App Store. I'm Adam McManus (Adam@TheWorldview.com). Seize the day for Jesus Christ.

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.

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

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.