Podcasts about genetic disorders

Why don't medical schools teach doctors about nutrition? New study adds to evidence that glyphosate can cause cancer; Former FDA chief calls for low-carb dietary guidelines; 2024 analysis shows saturated fat and cholesterol restriction ineffective for heart disease prevention; Natural support for the pain of vertebral compression fractures; Are “fruit and veggie” pills really as effective as they claim? Facial and neck massage facilitate brain's natural waste disposal, offering hope for neurodegenerative disorders.

When someone we know or love starts to develop psychological issues, we don't often associate it with a form of dementia. However, this trait is one of the most common signs of frontotemporal dementia (FTD) — the most common neurodegenerative disease in people under the age of 65. In his new book, Mysteries of the Social Brain: Understanding Human Behavior Through Science, Dr. Bruce Miller highlights his experiences observing people with FTD and what they have taught him about what he calls the "social brain."Dr. Bruce Miller has been observing people with FTD for decades in the Memory and Aging Center at the University of San Francisco, where he is also Professor of Neurology and the Founding Director of the Global Brain Health Institute. He shares key insights on how to keep our "social brain" healthy and how it can even unlock our creative potential.

We explore Alport syndrome, a genetic kidney disease that goes beyond the kidneys. From the role of  genetics test, involved in making diagnosis, to the clinical features, and management, we cover it all. 

Hear more about the AI-assisted clinical tool that can help diagnose some genetic disorders based solely on facial analysis from Dr. Mike Lyons, Curry Chair in Translational Genomics and Therapeutics at the Greenwood Genetic Center in Greenwood, S.C.

Mike Brampton and Julian Hoad welcome renowned veterinary neurologist Clare Rusbridge to discuss her work on Chiari malformation and syringomyelia in toy breed dogs. Clare discusses the challenges of diagnosing and managing these conditions, the genetic and breeding factors involved, and the significant impact on canine health. The discussion touches on Clare's efforts to develop better screening methods and public awareness, alongside her struggles against breeder resistance. The episode also explores broader topics like the influence of human preferences on dog breeding, veterinary pressures, and Clare's personal insights into balancing a demanding career in veterinary medicine with her passion for practicing yoga. The episode offers valuable insights not just for veterinarians, but for anyone interested in the welfare of our canine companions. ★ Support this podcast on Patreon ★

Did you know there's more serotonin in the gut than in the brain? The connection between our digestive health and our mental health are strong and surprising. To explore this link, Faith Salie talks with Dr. Benjamin Lebwohl, a gastroenterologist at NewYork-Presbyterian and Columbia and the Director of Clinical Research at Columbia's Celiac Disease Center. He's an expert on the connections between gastrointestinal health and the other systems in our body that rely on good digestion. He describes how GI diseases like Celiac have implications for mental health, and what anyone can do to support their digestive health. Join us for a live recording of an episode of Health Matters on October 15th. Learn more at nyp.org/artofhealing.

We are joined by Dr. Osasuyi Iyasere to discuss genetic disorders, particularly those affecting the kidneys. We discuss approaches to identifying and managing these conditions, offering practical insights for healthcare professionals and MRCP candidates.

This week, more on genetics as an influence to an autism diagnosis with a twist: can genetics lead to a specific treatment for core symptoms – across the board? How do you measure such broad symptoms? Our Rett Syndrome family friends and colleagues developed a novel outcome measure to capture what was most important to … Continue reading "Breakthrough for those with rare genetic disorders"

IVF that makes sure your babies have no abnormalities is the gold standard! Did you know that Preimplantation Genetic Testing (PGTA) is an added procedure within IVF, that you can do to prevent the passing of genetic disorders to your future child? Check out MIX's interview with fertility expert Dr. Leong Wai Yew from Alpha IVF & Women's Specialists, as he discusses the process and benefits of PGT today!

Episode #311. Some people follow a ketogenic diet seeking to lose weight, feel more energised, or gain control over their eating habits. Others may turn to this diet in an effort to treat their epilepsy, bipolar disorder, or diabetes. Regardless of their reasoning for adopting this eating pattern, a key question remains: can high LDL cholesterol levels on a ketogenic diet be safe? Today I sit down with Dr William Cromwell, MD and Dave Feldman to explore this question. In this discussion, Dr William Cromwell and Dave Feldman share their professional opinions on whether high cholesterol on a keto diet is a problem. We investigate where their opinions align and where they differ, where Dave's hypotheses diverge from the norm, and what we do and don't know with the available evidence. We also explore the significance of ApoB, lifespan and healthspan considerations, research Dave is currently conducting, and much more. Specifically, we discuss: Intro (00:00) Dr. William Cromwell: Background as a Lipidologist and LDL Research (01:54) Dave Feldman's Ketogenic Diet and Elevated LDL Experience (05:34) Unpacking the Lipid Hypothesis and Cardiovascular Risk (12:30) The history and evolution of the lipid hypothesis (20:40) The role of apoB lipoproteins in atherosclerosis (23:39) Factors beyond apoB involved in atherosclerosis and mortality risk (31:59) The complexity of interpreting mortality data in the context of apoB (41:40) Macrophages and the process of atherosclerosis (44:00) Beyond ApoB: Metabolic Vulnerability, Inflammation and Mortality Risk (52:57) Transcytosis: A New Perspective on LDL Movement and Atherosclerosis (1:10:36) Exploring Low Cholesterol Impacts and Genetic Disorders (1:17:30) Macrophage function and phenotype in the context of different drivers of high apoB (1:22:30) Defining Lean Mass Hyper-responders in the Context of a Ketogenic Diet (1:31:40) Investigating PCSK9 and Its Effects on Healthspan (1:38:00) Assessing cardiovascular risk in lean mass hyper-responders (1:43:50) Statin safety, adverse effects, and patient reluctance (2:01:54) Ketogenic Diets and Elevated LDL: Balancing Individual Risks and Benefits in the Absence of Long-term Data (2:10:40) Insulin Resistance, ApoB, and Cardiovascular Risk: Navigating the Challenges in Assessment and Imaging (2:18:12) Lean Mass Hyper-responder Study: Design, Recruitment, and Eligibility Criteria (2:32:45) Closing Perspectives on Research and Dietary Options (3:04:47) Outro (3:06:42) Connect with Dr William Cromwell on Twitter/X, LinkedIn, and his website, https://www.mylipid.com/. Discover more of his work with Precision Health Reports on Twitter/X, LinkedIn, Facebook, Instagram, and at https://precisionhealthreports.com/. Connect with Dave Feldman on Twitter/X, YouTube, and Instagram, and discover more of his work at https://citizensciencefoundation.org/, https://ownyourlabs.com/, and https://cholesterolcode.com/. This episode is brought to you by: InsideTracker If you want to improve your health, you need to measure where you're currently at. InsideTracker analyses up to 48 blood biomarkers including ApoB, LDL, HDL, A1C, and more before giving you advice to optimise your health. Get a 20% discount on your first order at insidetracker.com/simon. Shopify Shopify, the world's leading e-commerce platform, helps you turn browsers into buyers with the internet's best-converting check out–up to 36% better compared to other leading e-commerce platforms. To boost your conversion rate, and grow your business, sign up for a one-dollar-per-month trial period at shopify.com/proof. Sun Home Saunas Invest in your body and mind with Sun Home Saunas, pioneers in crafting premium saunas and cold plunges. Safe, effective, research-backed wellness tools to improve cardiovascular health, offer psychological benefits, and reduce muscle soreness. Head to sunhomesaunas.com/theproof for $300 off your purchase.

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma and Biotech world. ##News 1: New drug shows promising results in cancer treatmentA new drug has shown promising results in the treatment of various types of cancer. The drug, called XYZ-123, has been tested on a group of patients with advanced stage cancers, and it has been found to significantly reduce tumor size and improve overall survival rates. This is great news for the millions of people who are affected by cancer each year, as it offers a potential new treatment option that could greatly improve their quality of life. ##News 2: Breakthrough in gene therapy researchScientists have made a major breakthrough in gene therapy research. They have developed a new technique that allows them to safely and effectively deliver genes into target cells, which could open up new possibilities for the treatment of genetic disorders. This development is particularly exciting because it has the potential to revolutionize the way we approach the treatment of genetic diseases, offering hope to patients who previously had limited options for managing their conditions.##News 3: Pharmaceutical company announces new partnershipA leading pharmaceutical company has announced a new partnership with a research institute to collaborate on the development of innovative therapies for various diseases. This partnership brings together the expertise and resources of both organizations, which could accelerate the discovery and development of new treatments. This is an important step forward in the field of pharmaceutical research and development, as collaborations like these are crucial for advancing medical science and bringing new therapies to patients.##News 4: FDA approves new drug for rare diseaseThe U.S. Food and Drug Administration (FDA) has recently approved a new drug for the treatment of a rare disease. This is significant because it provides hope for individuals who are affected by this condition, as it offers a targeted treatment option that was previously unavailable. The approval of this drug showcases the importance of ongoing research and development efforts in the pharmaceutical industry, as it demonstrates the potential to bring new therapies to patients with unmet medical needs.##News 5: Biotech startup secures funding for drug developmentA biotech startup has recently secured a significant amount of funding to support the development of a new drug. This is an exciting development for the company and for patients who may benefit from this potential treatment option. The funding will allow the company to conduct further research and clinical trials, bringing them one step closer to potentially commercializing their drug. This highlights the importance of investment in the biotech industry, as it plays a critical role in driving innovation and bringing new therapies to market.In summary, today's news in the Pharma and Biotech world includes promising results from a new cancer drug, a breakthrough in gene therapy research, a new partnership for innovative therapies, FDA approval of a drug for a rare disease, and funding secured by a biotech startup for drug development. These developments offer hope for patients and showcase the ongoing advancements in medical science. Stay tuned for more updates on these and other important news in the Pharma and Biotech industry. Thank you for joining us today.

In this eye-opening episode of "Taco Bout Fertility Tuesday," we're diving deep into the genetic pool of IVF testing. Get ready to decode the complex world of Pre-Genetic Carrier Screening, Pre-Implantation Genetic Testing (PGT), and Karyotype testing. We'll unravel how these tests intertwine yet stand apart in the IVF journey, and why knowing your genes is more than just a "find-the-disease" game. Tune in as we shed light on the intricate tapestry of reproductive genetics!

Good morning from Pharma and Biotech Daily: the podcast that gives you only what's important to hear in the Pharma and Biotech world. ## News 1: New Breakthrough in Cancer TreatmentIn today's news, we have a groundbreaking development in cancer treatment. Researchers at XYZ University have discovered a new drug that targets cancer cells specifically without harming healthy cells. This drug has shown promising results in early clinical trials and could potentially revolutionize cancer treatment as we know it. The team behind this discovery is hopeful that this drug will be available to patients within the next few years. ## News 2: COVID-19 Vaccine UpdateMoving on to our next news, there has been a significant update in the development of a COVID-19 vaccine. Pharmaceutical company ABC has successfully completed Phase 3 clinical trials for their vaccine candidate. The results show that the vaccine is highly effective in preventing COVID-19 and has a good safety profile. ABC is now seeking approval from regulatory authorities to make this vaccine available to the public as soon as possible. This is a major step forward in our fight against the pandemic. ## News 3: Gene Therapy BreakthroughIn other news, scientists at DEF Biotech have made a groundbreaking discovery in the field of gene therapy. They have developed a new technique that allows for precise editing of genes, offering potential treatments for genetic disorders previously thought to be incurable. This breakthrough has the potential to change the lives of millions of people suffering from rare genetic diseases. The team at DEF Biotech is now working towards further refining this technique and conducting additional clinical trials. ## News 4: Alzheimer's Disease BreakthroughOur next news revolves around Alzheimer's disease research. Researchers at GHI Pharmaceuticals have identified a potential new target for treating Alzheimer's disease. By targeting a specific protein implicated in the progression of the disease, they have been able to slow down cognitive decline in animal models. Although more research is needed, this discovery brings hope for the development of effective treatments for Alzheimer's disease in the future. ## News 5: Digital Health InnovationLastly, we have an exciting update in the field of digital health innovation. JKL Technologies has developed a new smartphone app that allows users to monitor their health conditions in real-time. This app connects to wearable devices and provides personalized insights and recommendations. It has the potential to empower individuals to take control of their health and make informed decisions about their well-being. JKL Technologies plans to launch this app globally in the coming months. That's all for today's episode. Stay tuned for more updates on the latest advancements in the Pharma and Biotech world. Remember, we only bring you what's important to hear. Thank you for listening!

We're taking a break for the holidays. New episodes of Health Matters will return in January. For the holiday break, we are republishing one of this year's most impactful episodes: Faith Salie talks with Dr. Benjamin Lebwohl, a gastroenterologist at NewYork-Presbyterian and Columbia. He's also the Director of Clinical Research at Columbia's Celiac Disease Center, and an expert on the connections between gastrointestinal health and the other systems in our body that rely on good digestion for their function. He describes how GI diseases like Celiac have implications for mental health, and what anyone can do to support their digestive health.Click here for the episode transcript.

The ability to identify rare diseases in critically ill babies is being rolled out at Auckland Hospital, allowing for quicker diagnosis and treatment. There are around five deaths for every 1000 live births in New Zealand each year, and at least one of these is due to an undiagnosed genetic disorder of a baby in intensive care. There are 150,000 children with rare diseases, with fewer than half of them are diagnosed by the time they turn one - and some families can wait more than 10 years for an actual diagnosis. A new genetic sequencing facility, established by the Liggins Institute means DNA sequencing for neo-nates who are critically ill, and will no longer need to be done overseas, making the process less costly and quicker. Liggins Institute Director Justin O'Sullivan says the cutting edge genome sequencing technology will revolutionise the ability to diagnose rare diseases in infants. He says this will empower clinicians and whanau to deal with more than 300 known rare diseases where there are readily available treatments - an exciting development according to clinical neonatologist Auckland Hospital director for new born services Dr Mariam Buksh.

Dr. Lauren Oldfield, Director of Synthetic Genomics, Replay April 17, 2023 In this episode, we discuss efforts to develop large DNA viruses, such as herpesviruses, as vectors to deliver gene therapies, including advantages over other types of pathogen platforms. Notably, large viruses enable the delivery of larger genes for therapeutic purposes, and the characteristics of herpes simplex viruses (HSV) can allow gene therapies to be delivered over longer periods of time.

This week Faith Salie talks with Dr. Benjamin Lebwohl, a gastroenterologist at NewYork-Presbyterian and Columbia. He's also the Director of Clinical Research at Columbia's Celiac Disease Center, and an expert on the connections between gastrointestinal health and the other systems in our body that rely on good digestion for their function. He describes how GI diseases like Celiac have implications for mental health, and what anyone can do to support their digestive health. Click here for the episode transcript. 

Dr. Wendy Chung's childhood fascination with puzzles and mysteries gives her an edge when it comes to solving the mysteries of genetic diseases. In conversation with Host Catherine Price, Dr. Chung outlines her innovative work with The Human Genome project, her role in identifying the genes that cause spinal muscular atrophy and the collaborative efforts that went into developing life-sustaining treatments. Dr. Chung also discusses the GUARDIAN Program – which uses the newborn heel prick test to screen for a wide variety of genetic diseases, thereby providing equitable access to diagnosis and life-saving care to all infants. The views shared on this podcast solely reflect the expertise and experience of our guests. For more information visit nyp.org/Advances

Doctors Sara and Lisa talk to GP Dr David Bartlett who works with the Neuroendocrine Cancer UK charity and GP Dr Will Evans who is a researcher specialising in rare diseases. We wanted to discuss how they  approach finding rare diseases in General Practice whilst balancing this with the risk of over investigating. We start with definitions and classifications before discussing where neuroendocrine cancers fit into this landscape. Their pearls of wisdom could help us keep our antenae up, referrals helpful and resources for clinicians and patients well stocked.  You can use these podcasts as part of your CPD - we don't do certificates but they still count :) Useful resources:  British Journal of General Practice Article: Rare diseases in General Practice: Recognising the Zebras among the Horses. Evans, W & Rafi I (Vol 66, 2016): https://bjgp.org/content/66/652/550 Rare Disease UK: https://www.raredisease.org.uk/ Neuroendocrine Cancer UK: https://www.neuroendocrinecancer.org.uk/ Royal College of GPs eLearning on Neuroendocrine Cancers (search here): https://www.rcgp.org.uk/learning-resources/courses-and-events/elearning-courses Medics for Rare Diseases: https://www.m4rd.org/ Information on Beckwith Wiedemann Syndrome: https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/beckwith-wiedemann-syndrome-bws/ Inattentional Bias Studies with Radiology: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3964612/ https://pubmed.ncbi.nlm.nih.gov/17412097/ Mnemonic Family GENES Reference: Genetic red flags: clues to thinking genetically in primary care practice. Whelan et al. Primary Care: Clinics in Office Practice (Sept 2006): https://pubmed.ncbi.nlm.nih.gov/15331244/ Resource with helpful leaflets for Chromosomal Diseases: https://rarechromo.org/ OMIM: An Online Catalogue of Human Genes and Genetic Disorders: https://www.omim.org/ Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/ Orphanet Rare Disease Platform with Search Engine: https://www.orpha.net Rare Disease Search Engine: https://www.findzebra.com/https://www.ndr-uk.org/browse ___ We really want to make these episodes relevant and helpful: if you have any questions or want any particular areas covered then contact us on Twitter @PCKBpodcast, or leave a comment on our really quick anonymous survey here: https://pckb.org/feedback ___ This podcast has been made with the support of GP Excellence and Wigan CCG. Given that it is recorded with Greater Manchester clinicians, the information discussed may not be applicable elsewhere and it is important to consult local guidelines before making any treatment decisions.  The information presented is the personal opinion of the healthcare professional interviewed and might not be representative to all clinicians. It is based on their interpretation of current best practice and guidelines when the episode was recorded. Guidelines can change; To the best of our knowledge the information in this episode is up to date as of it's release but it is the listeners responsibility to review the information and make sure it is still up to date when they listen. Dr Lisa Adams, Dr Sara MacDermott and their interviewees are not liable for any advice, investigations, course of treatment, diagnosis or any other information, services or products listeners might pursue as a result of listening to this podcast - it is the clinicians responsibility to appraise the information given and review local and national guidelines before making treatment decisions. Reliance on information provided in this podcast is solely at the listeners risk. The podcast is designed to be used by trained healthcare professionals for education only. We do not recommend these for patients or the general public and they are not to be used as a method of diagnosis, opinion, treatment or medical advice for the general public. Do not delay seeking medical advice based on the information contained in this podcast. If you have questions regarding your health or feel you may have a medical condition then promptly seek the opinion of a trained healthcare professional.

In this episode, we review the high-yield topic of Other Genetic Disorders from the Pediatrics section. Follow Medbullets on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets

Ayoka from Atlanta, Georgia in the US is desperate to have a baby and her family is helping to pay for her IVF treatment. But Ayoka knows that she carries a serious genetic condition, Fragile X, which she does not want to pass on to her children. She tells Claudia Hammond what it means to know that she would be prevented from having an abortion, even if pre-natal testing revealed her unborn baby had the inherited condition. That is because the state of Georgia, up until yesterday when the ban was successfully challenged in court, has restricted termination after six weeks of pregnancy. This restriction is too early for genetic testing to have taken place. So what will she do if the ban is reinstated? Lebanon has experienced profound economic, financial and civil shocks in recent years as well as absorbing almost a million and a half refugees, a third of its total population. The strains on its infrastructure are acute and for the first time in almost thirty years, there have been outbreaks of cholera, claiming lives of young and old alike, just as there is a global shortage of cholera vaccines. Lebanon's Minister of Public Health, Dr Firass Abiad, tells Claudia about the steps that are being taken to treat, vaccinate and restore vital infrastructure to stop the disease spreading. And the BBC's Science and Health correspondent, James Gallagher, brings the latest medical findings, including how armadillos showed that the leprosy bacterium can regenerate organs, how children's different births cause different microbiomes and different reactions to vaccinations and which smells give you a better night's sleep. Presenter: Claudia Hammond Producer: Fiona Hill (Photo: A pregnant woman lying down. Credit: Brooke Fasani Auchincloss/Getty Images)

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.11.12.516252v1?rss=1 Authors: Levitis, E., Liu, S., Whitman, E. T., Warling, A., Torres, E., Clasen, L. S., Lalonde, F., Sarlls, J., Alexander, D. C., Raznahan, A. Abstract: Diverse gene dosage disorders (GDDs) increase risk for psychiatric impairment, but characterization of GDD effects on the human brain has so far been piecemeal and lacked simultaneous analysis of multiple brain features across different GDDs. Here, through multimodal neuroimaging of 3 aneuploidy syndromes (XXY, XYY, trisomy 21), we reveal considerable diversity in cortical changes across GDDs and imaging-derived phenotypes (IDPs). This variegation of IDP change underlines the limitations of studying GDD effects unimodally. Integration across all IDP maps reveals highly distinct architectures of cortical change in each GDD, along with partial coalescence onto a common spatial axis of cortical vulnerability. This common axis shows strong alignment with shared cortical changes in behaviorally defined psychiatric disorders, and is enriched for specific molecular and cellular signatures - offering a high-priority target for future translational research. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

In this week's episode, GOLD speaks to Patrick Short, CEO, Sano Genetics, about the challenges and opportunities in genetic medicine today. He discusses his personal connection to tackling genetic diseases, the top reasons behind research participation hesitancy and the therapy areas in which he believes genomic testing and medicine could be most impactful. Plus, news from the World Health Summit. If you're interested in learning more about the topic areas discussed in this episode, check out the following content: Tackling the trust gap in genomic medicine https://www.emg-gold.com/post/tackling-the-trust-gap-in-genomic-medicine The rare disease disparity https://www.emg-gold.com/post/the-rare-disease-disparity Davidek Herron on embracing pharma's digital transformation https://www.emg-gold.com/post/embracing-pharma-s-digital-transformation

People Who Are the Products of Incest, Do Have Any Genetic Disorders? | People Stories

People Who Are the Products of Incest, Do Have Any Genetic Disorders? | People Stories

Rare diseases. The only thing really rare about them is their name! While it is true that individually, each rare disease only affects a handful of people, together, they represent 300 million individuals worldwide. That is 4% of the human population.  These 300 million people suffer from over 7.000 different diseases that are catalogued under the generic name ‘rare diseases', simply because they have a common feature: they affect fewer than 5 in 10.000 people. But that is not the only thing these diseases have in common. Most of them are genetic, appear during childhood and are incredibly challenging to diagnose.  Did you know that it takes an average of 7 to 8 years before a diagnosis is reached? During this time, a patient's condition can significantly deteriorate. To better understand this fascinating field, we have the pleasure of welcoming on this podcast Pr. Stanislas Lyonnet, the Director of Imagine, the Paris-based Institute of Genetic Diseases. He is also a renowned Professor of Genetics and a clinical geneticist. What you will learn in this episode:  most rare diseases have a genetic cause  gene therapy is a medical approach that treats or prevents diseases by correcting the underlying genetic problem  90% of rare diseases have no effective treatment  finding solutions for rare disease patients has become a global fight  A bit of history: 1953 - discovery of the structure of DNA 2001 - publication of the first draft of the human genome  2021 - adoption of the first UN Resolution on Addressing the Challenges of Persons with Rare Diseases and their Families by Europe's Member States Learn more about diseases names Rare genetic disorders include:  Ehlers-Danlos syndrome AA amyloidosis Adrenoleukodystrophy (ALD) Usher syndrome Mitochondrial diseases What is the rarest genetic disorder? According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history. What are genetic disorders? Genes are made of DNA, which contain instructions for cell functioning and the characteristics that make every human being unique. Genetic disorders occur when a mutation affects genes or when someone has the wrong amount of genetic material. We receive half of our genes from each biological parent and may inherit a gene mutation from one parent or both. Sometimes genes change due to mutations, namely issues within the DNA. This can raise your risk of having a genetic disorder. Genetic disorders can be: chromosomal, complex, single-gene. Science for Care is a podcast by HealthTech for Care, a non profit organization designed to support and promote access to care for all. If you enjoy our show, please mention it to your friends, family and co-workers, and leave ratings and reviews on your favorite listening platform. Production: MedShake Studio Hosted by Ausha. See ausha.co/privacy-policy for more information.

Julia shares her story of back to back triploidy preganacies and how this led her family to move forward with IVF.

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Cesarean Section, Childhood Trauma & Accidents, Surgery, Stroke Recovery, Genetic Disorders. Whoa! That's a lot. Chelsea & Nate discuss their experiences with chronic pain and how they treat/live with it. Sobriety introduces a different spin on treating pain and they address this as well as a naturalistic approach to the “idea” of pain and body memory. This is all delivered with Chelsea & Nate's classic banter and a lighthearted approach to a serious topic. Join Chelsea and Nate for a candid and hilarious take on life- nothing is off limits. They tackle everything from their sobriety, the queer spectrum, where do we go in “dreamland” and so much more! Get to know Chelsea & Nate as they get to know each other! You know Chelsea Rose Fitzy from her hilarious Tiktok account with over 150k followers, portraying all of our favorite characters from the restaurant business and as the founder of The Lobster Clam Lighthouse Shanty Sea Shack. Nate is a podcast host and producer and has created and produced The Sobriety Diaries and The Influence: A Social Media Podcast. Together they bring a raw and uncensored look at their own lives, the world around them, and of course, their Unqualified Opinions. Subscribe now so you don't miss a beat! New episodes every Friday! IG @unqualifiedopinionsofficial unqualifiedopinionsofficial@gmail.com Leave us a voice message here: https://anchor.fm/nate-kelly9/message Apple Podcasts: https://podcasts.apple.com/us/podcast/unqualified-opinions-with-chelsea-nate/id1622978816 Spotify: https://open.spotify.com/show/7dTGzFJ3Wt9H3EOTbGTawy Google Podcasts: https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy85NWVjNjA5MC9wb2RjYXN0L3Jzcw?sa=X&ved=2ahUKEwjw3taatvP3AhWVmGoFHVptCaUQ9sEGegQIARAC Amazon Music: https://music.amazon.com/podcasts/3922a05e-cb41-43d7-ac87-1e1a63d81fb2/unqualified-opinions-with-chelsea-nate iHeart Radio: https://www.iheart.com/podcast/269-unqualified-opinions-with-96607841/ Audible: https://www.audible.com/pd/Unqualified-Opinions-with-Chelsea-Nate-Podcast/B09ZRBQ2L9?action_code=ASSGB149080119000H&share_location=pdp&shareTest=TestShare --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app Support this podcast: https://anchor.fm/nate-kelly9/support

An IU-developed technology can help drug makers develop drugs for genetic disorders, and researchers at the IU School of Medicine are exploring new approaches to better manage vision complications from type 2 diabetes.

We welcome back Dr. Tara Sander Lee of the Charlotte Lozier Institute to discuss the effects of prenatal screenings, the important difference between medical screenings and medical tests, and how technological advances are being used today to encourage abortion. False Positives for Genetic Disorders in Prenatal Testing Unacceptably High Complaint Letter Filed With SEC regarding Natera's Prenatal Screening Technology Lawmakers Demand FDA Explain Inaccurate Prenatal Tests Following Report The Voyage of Life

GCU NUR 631 Pathophysiology Topic 1 Cellular Adaptation and Genetic disorders. Please click like, share, and Subscribe to help support this channel. If you would like to support this channel and the content, please visit: https://www.buymeacoffee.com/veracityhealth https://www.youtube.com/channel/UC884M_5sZ-cNX1wyWsUrJ_g

In this episode, Prof. discusses the likelihood of genetic disorders being passed on from the father and also discusses  the odds of getting pregnant at the age of 45. Tune in to the IVF Journey podcast and get updates on the latest episodes.

In this episode we discuss the mission of Amicus therapeutics to tackle and find treatment for rare genetic disorders with Mr J Crowley (CEO and founder of Amicus Therapeutics). He shares his personal journey into biotechnology to find treatment for his children who had pompe disease, the challenges of balancing being a compassionate, visionary leader with building financial health of a biotechnology company.

Trisha Sawhney from Melbourne is one of only 120 people diagnosed with Aspartylglucosaminuria (AGU) worldwide. Her parents are fundraising for a clinical trial in the US that could produce a cure for this rare neurodegenerative disorder and save their daughter's life. - ਆਸਟ੍ਰੇਲੀਆ ਦੀ ਰਹਿਣ ਵਾਲ਼ੀ 12-ਸਾਲਾ ਪੰਜਾਬੀ ਬੱਚੀ ਤ੍ਰਿਸ਼ਾ ਸਾਹਨੀ ਨੂੰ ਏ.ਜੀ.ਯੂ ਨਾਮ ਦੀ ਲਾਇਲਾਜ ਬਿਮਾਰੀ ਹੈ। ਆਪਣੀ ਧੀ ਦੀ ਜ਼ਿੰਦਗੀ ਬਚਾਉਣ ਲਈ ਉਸਦੇ ਮਾਪੇ ਹਰ ਸੰਭਵ ਕੋਸ਼ਿਸ਼ ਵਿੱਚ ਜੁਟੇ ਹੋਏ ਹਨ ਜਿਸ ਦੌਰਾਨ ਭਾਈਚਾਰੇ ਵੱਲੋਂ ਫੰਡਰੇਜ਼ਰ ਜ਼ਰੀਏ ਲੱਖਾਂ ਡਾਲਰ ਵੀ ਇਕੱਠੇ ਕੀਤੇ ਗਏ ਹਨ।

Researchers are still laying the groundwork in the search for therapeutics that target the mechanism for genetic disorders leading to new treatments. On this month's GenePod, authors of two recently published articles in Genetics in Medicine discuss where trials for such molecules are succeeding and where there is still more research to be done to determine the efficacy and safety of new treatments. Ravi Savairayan, professor of genetics at the Murdoch Children's Research Institute discusses the long-term study of vosoritide – the first drug to be approved to treat achondroplasia in Europe with ongoing FDA review in the United States. Maxime Luu, at the University Hospital of Dijon, explains why a trial to treat PIK3CA overgrowth spectrum (PROS) with the breast cancer drug taselisib was halted and, nevertheless, how this promising line of research may proceed in the future. See acast.com/privacy for privacy and opt-out information.

Brandy and Lydia discuss their personal experiences during the pandemic. Being bored in the house, bored in the house bored with kids has its ups and downs.

Episode Summary:Ever heard that an inherited thrombophilia, a.k.a. clotting disorder could be implicated in miscarriages and unexplained infertility?In this week's episode we touch on Factor V Leiden, Prothrombin and MTHFR. (Note that I'm a bit of a fast talker in this one, so get ready to ingest some quick info!)The majority of women with these conditions have healthy pregnancies, but if you do have unexplained infertility and/have suffered losses, these might be worth a look. Much of the time, it's best to work with the cards you've been dealt. Sometimes simple lifestyle changes and a boost from natural medicine can assist with reducing the effects of these genetic mutations. This week's episode contains some quick DIY information for those seeking insight on the connection between unexplained infertility or miscarriages and blood clotting disorders. Tune in TODAY!Thanks for Listening:Thanks so much for listening to our podcast! If you enjoyed this episode and think others would love to hear it, please share it using the social media buttons on this page. Do you have some feedback or questions about this episode or want to be a guest on the show? Leave a comment in the section below or visit the website to contact me!www.naturnalife.comSubscribing to The Podcast:If you would like to get automatic updates of new podcast episodes, you can subscribe to the podcast on Apple Podcasts, Stitcher, Spotify, Amazon, or whatever your favorite podcast app is!Leave Us an Apple Podcasts Review:Ratings and reviews from our listeners are extremely valuable to us and greatly appreciated. They help our podcast rank higher on Apple Podcasts, which exposes our show to more awesome listeners like you. So if you have a minute, please leave a review on Apple Podcasts.

Tune in for a deeper understanding about the different types of genetic disorders! Learn more about the effects of XXY Syndrome, Down Syndrome, Klinfelter Syndrome, and more!

27 June 2021: Helen speaks to Malar The Book Lady and author Allison Williams and Librarian of the Year Sonia Alnahawi about what we can do to encourage our children to read more.  Spinal muscular atrophy is a genetic disorder that affects one in 11,000. Abu Dhabi-based dad Mohamed's  daughter Malak was diagnosed with the disease and needs an injection that costs AED8 million. Helen also gets the thoughts of Dr. George from the Genesis Clinic about how to check for genetic disorders.  Failure is actually a good thing. Claire Turnbull of RGS says it's an experience that builds character. And finally, Helen goes head to head with 10-year-old record-holder Sara Chhipa as they test each other's knowledge of capital cities. See omnystudio.com/listener for privacy information.

Trisomy 13 & 18 Ethical Considerations with Dr. Paul Mann PARTICIPANTS: Paul Mann, MD Zachary Hodges, MD About Our Guest: Dr. Paul Mann is an Associate Professor of Pediatrics, Chief of the Division of Neonatology and practicing neonatologist at the Medical College of Georgia. He also is the Director of Clinical Ethics for the Augusta University Center for Bioethics and Health Policy. Free CME Credit: https://mcg.cloud-cme.com/course/courseoverview?P=0&EID=7772 Learning Objectives: By the end of listening to this episode, learners should be able to: Recognize aneuploidies as a common cause of genetic abnormalities in pregnancy. Recognize the historically pessimistic counseling given to families of children with trisomy 13 and 18 and how this might continue to influence our counseling today. Recall how most babies are prenatally diagnosed with trisomy 13 and 18. Describe the life-limiting malformations associated with trisomy 13 and 18. Recognize the recent improvement in prognosis of children with trisomy 13 and 18 as they are being selectively offered more intensive and surgical care. Sensitively counsel families about the general prognosis of newborns with trisomy 13 and 18 while avoiding inaccurate and problematic language such as “lethal and incompatible with life.”        Thank you for listening to this episode from the Department of Pediatrics at the Medical College of Georgia. If you have any comments, suggestions, or feedback- you can email us at mcgpediatricpodcast@augusta.edu. Remember that all content during this episode is intended for informational and educational purposes only. It should not be used as medical advice to diagnose or treat any particular patient. Clinical vignette cases presented are based on hypothetical patient scenarios. We look forward to speaking to you on our next episode of the MCG Pediatric Podcast.     Peer Reviewers: Amy Thompson, MD & MCG Pediatric Podcast Committee   References: Kett JC. Who Is the Next "Baby Doe?" From Trisomy 21 to Trisomy 13 and 18 and Beyond. Pediatrics. 2020;146(Suppl 1):S9-S12. doi:10.1542/peds.2020-0818D American College of Obstetricians and Gynecologists' Committee on Practice Bulletins—Obstetrics; Committee on Genetics; Society for Maternal–Fetal Medicine. Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders. Obstet Gynecol. 2016;127(5):e108-e122. doi:10.1097/AOG.0000000000001405 Neonatology: Management, Procedures, On-Call Problems, Diseases, and Drugs. Stamford, Conn: Appleton & Lange, 1999. Print. McCaffrey MJ. Trisomy 13 and 18: Selecting the road previously not taken. Am J Med Genet C Semin Med Genet. 2016;172(3):251-256. doi:10.1002/ajmg.c.31512 Bajinting A, Munoz-Abraham AS, Osei H, Kirby AJ, Greenspon J, Villalona GA. To operate or not to operate? Assessing NSQIP surgical outcomes in trisomy 18 patients [published online ahead of print, 2020 Jun 5]. J Pediatr Surg. 2020;S0022-3468(20)30369-9. doi:10.1016/j.jpedsurg.2020.05.037 Neubauer K, Boss RD. Ethical considerations for cardiac surgical interventions in children with trisomy 13 and trisomy 18. Am J Med Genet C Semin Med Genet. 2020;184(1):187-191. doi:10.1002/ajmg.c.31767 Wightman A, Kett J, Campelia G, Wilfond BS. The Relational Potential Standard: Rethinking the Ethical Justification for Life-Sustaining Treatment for Children with Profound Cognitive Disabilities. Hastings Cent Rep. 2019;49(3):18-25. doi:10.1002/hast.1003 Nelson KE, Rosella LC, Mahant S, Guttmann A. Survival and Surgical Interventions for Children With Trisomy 13 and 18 [published correction appears in JAMA. 2017 May 2;317(17 ):1803]. JAMA. 2016;316(4):420-428. doi:10.1001/jama.2016.9819

First, Gavriel's muscles got weaker. Then, he lost the ability to walk. From there, things will only get worse. The cause is Duchenne Muscular Dystrophy, a genetic disorder with no cure. But that might soon change. Using CRISPR, a state-of-the-art gene-editing tool, SickKids scientists were able to correct the disease-causing mutation in mice. The result? Improved muscle strength and function—and no signs of paralysis. Now, they're refining their approach, so they can take this treatment out of the lab and into the world.For more information on this episode, visit sickkidsfoundation.com/podcast/duchenne. And to fund research like this, go to sickkidsfoundation.com/donateSickKids Foundation is proud to recognize CIBC as the Premier Sponsor of the SickKids VS Podcast.

Aisha Said Al Shukaili is a Senior Continuous Improvement (CI) coach at Petroleum Development of Oman (PDO). Aisha began her CI career in 2015, and since she has become the first accredited CI coach in PDO and the first female in PDO to be awarded the Six Sigma Black Belt certification.Prior to her career in the petroleum industry, Aisha worked as a Medical Physicist in the radiotherapy department at The Royal Hospital (Oman) for one and half years, after graduating from Sultan Qaboos University with a BSc in Physics and Medical Physics. Before joining the CI function, Aisha was working in PDO as a petroleum engineer in the Petrophysics field for 7 years.Aisha is also a prominent member of the Oman Rare Disease Society and a has a special needs son with Cerebral Palsy, a neurological movement disorder._________Anglo Omani Society accounts:Instagram: angloomanisocietyLinkedin: The Anglo-Omani SocietyTwitter: @AngloOmaniSOCFacebook: The Anglo-Omani Society

A gene that helps to control inflammation increases the risk of obesity and could be turned off in mice to stop weight gain, a study by The University of Queensland Institute for Molecular Bioscience researcher Dr Denuja Karunakaran has found. - வீக்கத்தைக் கட்டுப்படுத்த உதவும் ஒரு மரபணு, நம் உடல் பருமனாகும் அபாயத்தை அதிகரிக்கிறது என்றும் அந்த மரபணு அணைக்கப்பட்டால் எலிகளின் உடல் எடை அதிகரிப்பதைத் தடுக்க முடியும் என்றும் குயின்ஸ்லாந்து பல்கலைக்கழகத்தின் மூலக்கூறு உயிரறிவியல் (Molecular Bioscience) ஆய்வாளர் டாக்டர் தேனுஜா கருணாகரன் கண்டறிந்துள்ளார்.

Science summative

Life has been hard for Carson Ness of Ohio who has five genetic disorders that prevent her from absorbing, metabolizing and expelling drugs. Over the years, she has had 12 surgeries including brain surgery. In spite of the pain and anxiety she has a wonderful sense of humour.

We take a look at the progress that’s been made in tackling rare genetic disorders (and the challenges that remain) and we hear from a prenatal genetic counsellor about how new tests are helping people carrying genetic variations make decisions about starting a family.With Dr Ron Jortner (founder and CEO of Masthead Biosciences and trustee of the Cambridge Rare Disease Network) and Genetic counsellor Kira Dineen.Full show notes, transcript, music credits and references online at GeneticsUnzipped.com.Follow us on Twitter @GeneticsUnzipGenetics Unzipped is written and presented by Kat Arney with audio production by Hannah Varrall.This podcast is produced by First Create the Media for the Genetics Society - one of the oldest learned societies in the world dedicated to supporting and promoting the research, teaching and application of genetics.

This week Dr. Purser introduces his updated version of MTHFR Support Plus - now called MTHFR Endure. Order Now at PhysicianDesigned.com. Dr. Purser goes on to discuss the various MTHFR Genetic Transcription Errors, symptoms and ways to treat them. He also talks about a number of other top Genetic Errors that he sees and treats in his practice. If you have fibromyalgia, you most likely have MTHFR errors as well. How does MTHFR connect with COMT errors? Listen now to find out.

Dr. Adeline Vanderver, an attending physician in the division of neurology at Children's Hospital of Philadelphia, explains some basic concepts about certain genetic disorders, specifically the leukodystrophy family, and her approach to treatment and management of these conditions and their effects. 

Michael and Stephanie discuss a potential dating app from George Church that would screen out potential matches whose pairing might let to children with serious genetic disorders.  There's plenty to think about here, but as the app doesn't exist yet, we'll have to fall back on old-fashioned dating habits. Or look into Church's other work, where he's trying to make us immune to viruses and reverse aging. So there's that. Please reach out on Twitter or by email at youdidwhatnowpodcast@gmail.com and let us know what you think of the show, suggest an article, or just say 'cowabunga'.  Please subscribe to the show, and rate us positively. We're trying to suck up to all those algorithms and get the show out there. Like us on Facebook at https://www.facebook.com/youdidwhatnowpodcast Follow Michael on Twitter at @ceetarFollow Stephanie on Twitter at @stephanieYDWN RSS subscription links! AppleGoogleStitcherSpotify Intro Clips: Simpsons, Gattaca, Jurassic Park

On this Special Fathers Network Dad to Dad podcast, host David Hirsch speaks with special father Steve Mogul, a financial advisor with UBS Financial Services and a father of two children who both have very rare developmental disorders. Hayley, is only one of 19 in the world who has a rare form of Smith–Magenis Syndrome. Bari, is one of only 19 in the world who have a mutated GRIN2B gene. It's a very unique situation and Steve spells out the challenges that his family faces. He also offers other parents of kids with special needs some truly insightful advice. That's all on this Dad to Dad podcast. To find out about Smith-Magenis syndrome go to:https://www.smsresearchfoundation.org, https://rarediseases.info.nih.gov/diseases/8197/smith-magenis-syndrome. To read about the GRIN@B gene, go to http://grin2b.com/about-grin2b/. And learn more about the Special Fathers Network at 21stcenturydads.org.

Genetic disorders are known to be affected by environmental factors. These mutations, or variations, can be caused by various environmental factors. Genetic susceptibilities are more common today due to increasing toxic insult in our environment. Less than five percent of humans have genetic defects at birth. Genetic SNP’s or “snips” make the enzymes necessary for the genes to work properly. These enzymes can be blocked by toxins such as: Heavy metals including mercury and lead Chemicals in and around our homes and pesticides such as glyphosate that are sprayed in our yards as a weed killer and on our food crops. Glyphosate is a chemical found in the weed killer known as Round-up. It is also sprayed on food crops to dry them out when ready to harvest. We then ingest these extremely harmful chemicals. Electromagnetic field radiation (EMF’s) When our genes cannot function properly their pathways become disrupted and multiple health and behavioral symptoms arise. This usually begins with an inflammatory response in the body which then can be seen as anxiety, sleep disruption, aggressive behaviors and much more. We often don’t realize why our kids are acting out or feel so sick but these genetic blocks are usually at the core of the problem.  Learn how various foods and environmental toxins can affect your child’s health and behaviors in my radio show interview with Dr. Bob Miller, specialist in functional genomics. Learn how genetic function is affected by the environment and what nutritional needs there are for those with specific genetic variants. Please listen to radio show #35, Symptoms of Genetic Disorders Caused By Environmental Factors. Bob Miller is a Traditional Naturopath specializing in the field of genetic-specific nutrition. He earned his naturopathic degree from Trinity School of Natural Health and is board certified through the ANMA. In 1993, he opened the Tree of Life practice and he has served as a traditional naturopath for 25 years. For the past several years, he has been engaged exclusively with nutritional genetic variants and related research, specializing in nutritional support for those with chronic Lyme disease. Click Here for more details.

SWAN is a support organisation and peak body helping families who have a child with an undiagnosed or rare genetic condition.

SWAN is a support organisation and peak body helping families who have a child with an undiagnosed or rare genetic condition.

ໃນອອສເຕຼເລັຍ ນຶ່ງຄົນຈາກແຕ່ລະຮ້ອຍຄົນ ເປັນຄົນປາພຳ.ສາເຫດຂອງການປາກພຳ ຍັງເປັນສິ່ງທີ່ຍັງບໍ່ຮູ້ໄດ້ຄັກແນວ່າມັນແມ່ນຍ້ອນຫັຍງ. ດ້ວຍເຫດນີ້ຕ້ອງການໃຫ້ຄົນປາກພຳເຂົ້າຮ່ວມການສຶກສາຄົ້ນຄົ້ວອັນນຶ່ງເພື່ອຈະຮູ້ສາເຫດອັນຈິງແທ້ຂອງການປາກພຳ... - ໃນອອສເຕຼເລັຍ ນຶ່ງຄົນຈາກແຕ່ລະຮ້ອຍຄົນ ເປັນຄົນປາພຳ.ສາເຫດຂອງການປາກພຳ ຍັງເປັນສິ່ງທີ່ຍັງບໍ່ຮູ້ໄດ້ຄັກແນວ່າມັນແມ່ນຍ້ອນຫັຍງ. ດ້ວຍເຫດນີ້ຕ້ອງການໃຫ້ຄົນປາກພຳເຂົ້າຮ່ວມການສຶກສາຄົ້ນຄົ້ວອັນນຶ່ງເພື່ອຈະຮູ້ສາເຫດອັນຈິງແທ້ຂອງການປາກພຳ...

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Alpha-1 antitrypsin (AAT) deficiency, a genetic disorder, is a common factor in lung diseases like COPD and emphysema. Dr. Mark Brantly’s research examines how AAT interacts with environmental factors that trigger the disorders. His findings are important because many physicians remain unaware of the genetic background of the diseases they treat. Much of Brantly’s work has been funded by University of Florida royalties derived from Gatorade, the brainchild of Robert Cade. TRANSCRIPT: Intro: 0:01 Inventors and their inventions. Welcome to Radio Cade a podcast from the Cade Museum for Creativity and Invention in Gainesville, Florida, the museum is named after James Robert Cade, who invented Gatorade in 1965. My name is Richard Miles. We’ll introduce you to inventors and the things that motivate them, we’ll learn about their personal stories, how their inventions work, and how their ideas get from the laboratory to the marketplace. Richard Miles: 0:38 Orphan diseases. What are they, why should we care? And who is out there trying to cure them? I’m your host, Richard Miles and today we’ll be talking about one such disease with Dr. Mark Brantly, a professor of medicine at the University of Florida College of Medicine. Welcome to Radio Cade, Dr. Brantly. Dr. Mark Brantly: 0:54 Thank you, Richard. Richard Miles: 0:55 Okay if I call you Mark? Dr. Mark Brantly: 0:56 Absolutely. Richard Miles: 0:57 Good, okay. So your research focuses on a condition called Alpha One Antitrypsin Deficiency. Did I say that correctly? Dr. Mark Brantly: 1:05 Absolutely. Richard Miles: 1:05 Okay, good. So what does that mean exactly? Who gets AAT and what is actually going on inside the body? Dr. Mark Brantly: 1:12 Well, so Alpha Antitrypsin Deficiency is a somewhat rare genetic disorder that is associated with a increased risk of developing chronic obstructive pulmonary disease or pretty bad lung disease, and also liver disease, particularly in children and as well adults, Alpha Antitrypsin Deficiency is relatively common in the Caucasian population. And in about one in hundred individuals have at least one abnormal gene, people that have two copies is about one in 3 000 people. So in the United States, there’s up to one and a hundred thousand individuals that have Alpha Antitrypsin Deficiency. Richard Miles: 1:48 So this is actually much more common than I thought. I thought this was an extremely rare condition, but it sounds like this is much more common. Dr. Mark Brantly: 1:55 That’s absolutely correct. And indeed it is the most common genetic cause of chronic obstructive pulmonary disease or emphysema in the United States. Richard Miles: 2:03 So if I understand correctly though, by itself, is it going to necessarily cause lung cancer having the deficiency will everyone with AAT eventually get lung cancer or are there other factors involved? Dr. Mark Brantly: 2:14 Right. So they don’t get lung cancer. They actually get destructive lung disease or obstructive lung disease, but you’re absolutely correct. Not everybody develops lung disease from alpha antitrypsin deficiency. And indeed there’s a very strong environmental component. I have patients that come see me that are 80 years old and their biggest complaint is they can’t dance as fast as they used to. However, if you smoke or you’re exposed to environmental toxins, particularly aerosol wise, you can develop rapidly progressive obstructive lung disease and then become extremely short of breath from it. Richard Miles: 2:47 Is this something that is connected with age at all? Or it’s just something that if you have the deficiency, you’ve got it from birth or do you not develop it until later on? Dr. Mark Brantly: 2:55 So you have the genes that predispose you, it from the beginning, you were inherited from both your mom and your dad. However, because of the environmental component, it’s not typically seen in children except in the manifestation of the liver disease and indeed Alpha Antitrypsin Deficiency related liver disease in children is the second, most common reason for liver transplants in the United States for the lung disease that typically takes time and exposure to toxins before that develops. And typically when individuals start smoking within 10 years, they have significant lung disease. And unfortunately, people that smoke oftentimes shorten their life by up to 20 to 30 years. Richard Miles: 3:37 Before you started doing research on Alpha One Antitrypsin Deficiency, was anyone else studying this or did you already kind of know what you’re looking for? Or how did you arrive at this? Dr. Mark Brantly: 3:48 I had the good fortune of studying genetics when I was in college with an incredible person, Margaret Menzel at Florida State University, who really got me interested in genetic diseases in general and genes in particular. And when I was on house officer in , in, during my training, I came across a patient that was aged 35 that had devastating emphysema. And as it turns out that patient had Alpha One Antitrypsin Deficiency, I was absolutely fascinated by this genetic disease at that point, and really decided almost at that point that I wanted to make that focus of my research career. Richard Miles: 4:23 For folks who are not medical researchers, including me funding is always a tough issue, right? I mean, if you’re a researcher, you could have a great idea, but you’ve got to get that approved and funded, right. Wanting to pay your own salary. And then presumably a team that’s going to help you in lab time and all that. Tell us about the funding process. How does that even start? If you’ve got something you want to study. Dr. Mark Brantly: 4:43 The funding process is tricky. Particularly oftentimes ideas, new ideas are not particularly exciting to reviewers in the such . And so you have to convince them. And those reviewers also hold the strings to the purses . As far as grant funding. From that standpoint, I think most investigators start with very small grants, particularly foundations in the such to pedal ideas that they have and then get small amounts of money. They use that small amounts of money to then build upon the work they have and basically the go to larger and larger grants that are available, particularly the top grants, which are federal grants or an NIH grants for biomedical research from that standpoint. So it’s rare for people to start their career and get grants straight away. And oftentimes people will partner with established investigators that say, listen, I have a good idea. Can you help me develop this? And that really is the key component of mentorship and developing scientists as well, because oftentimes when you work with somebody that believes in you and help support you, you can get to that stage of actually getting your own independent funding. Richard Miles: 5:51 So there’s actually a kind of a cool connection with Gatorade with the AAT research, right? And that some of the funds were provided by a fund that the college of medicine has funded by Gatorade royalties . Can you tell us something about that process? Dr. Mark Brantly: 6:05 I mean, you know, Gatorade affect me from the very beginning. I spent 16 years at the national institutes of health in Bethesda, Maryland doing research on Alpha One. And then basically the University of Florida recruited me to come here and the money to actually help me start my research program here was provided by Gatorade funds. And I was incredibly grateful to have those funds and it was allowed to basically transfer my work, which was funded by the NIH when I was there to basically start building up my grant portfolio to do this research. If I hadn’t had Gatorade, I’m not sure that I’d be here today. Richard Miles: 6:40 We love to hear that the at the Cade Museum you have since moved on or you’ve added on, I guess, other research topics to your portfolio and in one of those sounds like it has a, or does have a commercial potential. Tell us about that new research. And then we’ll talk a little bit about kind of your path to market. Dr. Mark Brantly: 6:57 Sure. So one of the huge issues about Alpha One Antitrypsin Deficiency, is that unfortunately patients are typically not diagnosed. If you could imagine an iceberg, the people have been diagnosed as just the tip, whereas the undiagnosis this huge group of people that have not been identified, there are a number of reasons why that occurs. One is that the vast majority of physicians out there have never been trained in genetic medicine. Therefore they don’t think about genetic diseases being part of the patients that they see. The other thing is there hasn’t been great diagnostic testing to identify individuals with Alpha One Antitrypsin Deficiency. And indeed in several studies up to seven physicians a re required for the diagnosis of Alpha One Antitrypsin Deficiency and so patients going from one physician to the other, and then finally the diagnosis is made. So to increase the possibility of b eing diagnosed, we’ve done a number of different things, pu t a p articularly partnering with the Alpha One foundation, which is a patient organization that has been very supportive of my career as well, developing educational materials for both patients and doctors has been very, very helpful. And then my laboratory developed an easy to use blood collection system in which we can do the diagnosis off the small drops of blood in the office. The patient comes in the doctor, pricks his finger and sent it to the laboratory. Richard Miles: 8:20 And with that, you’d be able to make a diagnosis. Dr. Mark Brantly: 8:23 Yeah, so the technology that allows us to do this is basically predominantly DNA based. These are mutations in the gene and are located on the chromosome 14, which is one of the major chromosomes in our gene makeup, we basically construct segments of DNA that replicate either the mutation or normal. And we then basically take a punter and they extract the blood from those filter papers t hen on that card and then isolate the DNA from that and then use those genetic sequences basically probe for the abnormal mutations. Richard Miles: 8:59 So it sounds relatively simple, but as you know, is that a class one medical device by FDA standards or what category does that fit in? But regardless, I imagine a tough process to get FDA approval. Dr. Mark Brantly: 9:10 Absolutely. And not only does it require FDA approval, but it also requires state licensing as well because we test all over the United States and several States have their own licensing programs. We basically have to get licensed in all 50 States in the United States. So there are many steps in proving that this assay is safe and effective to use on patients that involves validation of the technology. And there’s this relatively complex process to do that devising standard operating procedures so that everything is done officially. And according to the rules that each of the States and also the clinical laboratory enforcement act follow, then gearing up and being able to do many tests simultaneously. Richard Miles: 9:55 So that’s lots and lots of hurdles to clear, which it sounds like you’ve already done next . You , you do have a company it’s already producing these tasks, selling them, and you’ve diagnosed a lot of patients worldwide. And this is a story we’ve heard often on Radio Cade in which someone who starts or is in the academic field, develops an idea, takes it to market forms, a small company. And it’s a challenge, right? Because you’re in a different world, all of a sudden then the world of academia, what has been your experience with that? The highs and lows of taking this research that you’ve spent the majority of your career on. And now moving that into the market. Dr. Mark Brantly: 10:28 I have to say that the technology was easy compared to that step . In a lot of ways, I was not trained as a businessman and understanding all the stock market and equity buyers and investors, and that kind of stuff was totally new to me from this. And I had to have a crash course in it. And there were a number of hard knocks associated with it as well, including working with people that perhaps was more interested in the money than the patient aspect, which of course, as a physician, I’m most focused on from that standpoint, making it easy to use test , to help people from that standpoint. But there are market realities and we have to deal with those and also constructing the company and buying the land and building the laboratory were really tricky things to do. Fortunately, I had a partner to help me with some of the business aspects, but both of us were just from academia. And so we learned on the fly, how to do this, Richard Miles: 11:19 Are you and the partner CEO’s are sorta co-running this, or do you have a business person as a CEO now? And you’re just so you can go back to research. Dr. Mark Brantly: 11:28 So right now I am the medical director of the program and, and responsible for basically all the testing programs. My partner helps with the business aspects of it. But since we’ve expanded quite a bit, we’re actually hiring a business manager soon to help us to do the job better from that standpoint. Richard Miles: 11:44 And you said you’re doing production, the tests already out in Alachua, near Gainesville? Dr. Mark Brantly: 11:49 Yeah, so we , um, just outside of Progress Park, we renovated a building that was actually an old printing shop and made it into a laboratory. And it has about 8,000 square feet. We have 12 employees and it’s really been a lot of fun, but challenging to make things work from that standpoint and particularly this concept of service and having clients and that kind of stuff is pretty new to an academic researcher in a lot of ways. Richard Miles: 12:13 And your customers are who? Are hospitals or individual physicians ? Dr. Mark Brantly: 12:17 Our customers are, we have a pharmaceutical company, which basically distributes our test kits and our customers are both the pharmaceutical company and the physicians that send in the test to us from that standpoint. Richard Miles: 12:30 Mark , let’s switch up here and talk about you, your personal background and let’s move pre academic career. Where were you born? Were you raised, what did your parents do for living and , and sort of when did that moment hit that you said, I know I want to be a research scientist if ever. Dr. Mark Brantly: 12:46 I think back a long time. So I was born in Orlando. I’m a Florida boy. My father was in the air force. We moved around every three years, pretty much all through high school. From that standpoint, my father was an air force officer. Eventually he worked his way up from being an airman and basically went into college on the GI bill. This is my third time back to Gainesville. Richard Miles: 13:07 Really? Dr. Mark Brantly: 13:08 My father came here, Richard Miles: 13:09 You keep trying to escape. Dr. Mark Brantly: 13:10 Yeah, it’s exactly right. It has a draw to it, my father taught ROTC and in fact, taught Steve Spurrier during those times back in the sixties and the Vietnam era, we moved away and then came back again. I came back from medical school in the early 1970s, and then I returned again about 21 years ago when I was recruited out of the NIH by the University of Florida to start a big research program. Richard Miles: 13:37 I remember in your bio, did you go to Westwood Middle School? Dr. Mark Brantly: 13:41 I did. Richard Miles: 13:42 So same here. Okay. Mini reunion. I don’t think I’ve ever met somebody who went to Westwood Middle School, even in Gainesville. So. Dr. Mark Brantly: 13:50 And indeed I went to GHS and Tom petty was a senior when I was a freshman, so, Richard Miles: 13:55 So truly clearly distinguished cohort. Dr. Mark Brantly: 13:58 Right, right. Truly. I have Gainesville in my blood. And actually when we moved from Washington D.C. to here to raise our children, it was just a wonderful environment to raise children in. Richard Miles: 14:08 And it must have been nice being back in a place that you had roots or at least memories of it . Dr. Mark Brantly: 14:12 Yeah, absolutely. Gainesville is a wonderful town in many different ways. I’d had changed a whole lot and over the years from that standpoint, but it remains a wonderful place to live. And I think that the small town thing is actually a really good thing. Richard Miles: 14:26 And growing up as a student, were you always a good student? Dr. Mark Brantly: 14:30 Absolutely not. Richard Miles: 14:31 You weren’t? Okay. And why not? How bad a student were you Mark? Dr. Mark Brantly: 14:35 Well, I mean, I think in high school I was a C and B student. When I got to college, I wasn’t really even prepared. I, it really got a couple of D’s when I was a freshman . And then all of a sudden I sort of figured it out. Part of it had to do with a couple different things. One is that as a f reshmen, I got into the wrong orientation group. I wanted to be an adventure, a Marine biologist, but I got into this orientation group pre-medical and I had this remarkable individual, a guy named Bud B eringer who’s passed away since then. I t said how wonderful it is to be a physician and a healer. And I said, Oh my gosh, I love this idea. I think this puts things together for me. And so I started working harder and actually started getting lots of good grades and applied for medical school. Richard Miles: 15:21 And this is your first year of college? Dr. Mark Brantly: 15:24 Yeah . Yeah. So it was my first year of college, but I wasn’t very, very well prepared again because I hadn’t been working very hard. Richard Miles: 15:30 So I take it like in high school, you didn’t either like, or do particularly well in biology or chemistry or any of that. Dr. Mark Brantly: 15:36 Absolutely not. Absolutely not. It interesting though . And I have to say, in retrospect, I realized that I always loved science. I was a camera assistant and a dissection kit kid, and I was always out looking at the moon and stars and that kind of stuff. And I really had to absorb my love of science to really start to integrate that with my idea of being a physician as well. And I think by the time I arrived in medical school, I was blessed with some incredible mentors, including Bob Cade , Waldo Fisher , and others who basically clearly love science, but also love taking care of patients. And I think with those great examples, I began my idea of being a physician scientist began to bud. Richard Miles: 16:20 Right. So it sounds like as soon as you kind of recognized or appreciated , I guess the healing aspect right? Of the science. So it’s not just sort of science for science’s sake, you’re actually helping people and doing all this hard work in the lab. Dr. Mark Brantly: 16:33 That’s absolutely right. That was the thing that clicked for me in a lot of ways. And it made my love of science and connecting it with healing, very important aspect of my life and something I really want to pursue. Richard Miles: 16:45 I imagine you are probably asked to speak from time to time to maybe kids or youth groups or in some sort of mentorship capacity. If you had that, if you haven’t had that opportunity and you did, what would you say to say a group of ninth graders or even 12th graders? That haven’t figured out what they want to do in life. Would you make a pitch for going straight into medicine for instance, or what would your advice to those sort of people? Dr. Mark Brantly: 17:10 I think the past can be many fold. I think that advice to young people, as I give to my children is that number one, to be successful, you have to marry two things, your passion and your skill as you grow, you will become good at certain things. And it’s great to marry that passion for those things, with your plan for your career. From that standpoint, the other thing is I’ve met many smart people in my lifetime. I’ve met Nobel prize winners. I’ve met many people that were so bright, but those people weren’t successful because they were bright. They were successful because they worked really hard. They didn’t give up, they kept trying, they had faith in themselves. And most importantly, they had good mentors that supported them. And those mentors come in all shapes, sizes and colors. So we have to look for the right mentor when you find those people listen to them carefully. Richard Miles: 18:04 That’s great advice. It reminds me a little bit of the business book. Good to great. I think Jim Collins and he has this Venn diagram and it’s like, one circle is the stuff you’re passionate or enthusiastic about a nd o ther circle is stuff you’re good at. And then the third circle is the stuff that people w ill actually pay you for. So where a re those three intersect? That’s where you should logically put your career, w here the other things could support hobbies or things like that. But yeah, it’s particularly good to be good at the things you’re enthusiastic about. Otherwise you might not find an employer out there. Y eah. Dr. Mark Brantly: 18:35 Creative people oftentimes have many different pursuits. Richard Miles: 18:38 That’s a very good observation. You knew Bob Cade and you probably knew that he was a musician and he liked growing roses and collecting cars and everything. Do you have any artistic or off-beat hobbies outside of science? Dr. Mark Brantly: 18:49 I have to say that my hobbies are mostly outdoors. I love hiking and climbing mountains and swimming and being at the beach and the such. And I also like reading and I like writing a lot as well. Richard Miles: 19:04 So Mark , thank you very much for being on Radio Cade. Uh , it’s fascinating hearing your continuing journey best of luck with your company. It sounds like it’s poised for success. And we look forward to having you back on the show. Thank you very much. I’m Richard Miles Outro: 19:20 Radio Cade would like to thank the following people for their help and support Liz Gist of the Cade Museum for coordinating and vendor interviews. Bob McPeak of Heartwood Soundstage in downtown Gainesville, Florida for recording, editing and production of the podcasts and music theme. Tracy Collins for the composition and performance of the Radio Cade theme song featuring violinist, Jacob Lawson and special thanks to the Cade Museum for Creativity and Invention located in Gainesville, Florida.

Alpha-1 antitrypsin (AAT) deficiency, a genetic disorder, is a common factor in lung diseases like COPD and emphysema. Dr. Mark Brantly’s research examines how AAT interacts with environmental factors that trigger the disorders. His findings are important because many physicians remain unaware of the genetic background of the diseases they treat. Much of Brantly’s work has been funded by University of Florida royalties derived from Gatorade, the brainchild of Robert Cade.

This week Chris and Mark tackle genetic disorders!! Specifically Marfans and Cleidocranial dysostosis!!

What Does Genetic Disorders Mean? || ANUVANSHIK BIMARI KYON HOTI HAI? #AnuvanshikBimarikyaHotiHai#GeneticRog#AnuvanshikBimari #AnuvanshikRog#CausesOfGeneticDisorders#TypesOfGeneticDiseases #AnuvanshikBimariKitnePrakarKiHotiHai#AnuvanshikBimariKyonHai #AnuvanshikBimariKaiseHotiHai #AnuvanshikBimariKisUmrHotiHai #XzimerMedicare ke is podcast se aap janyenge ki genetic bimariyan kya hai, kaise hoti hai genetic bimariyan , kaise lade genetic bimariyan bimariyon se garbh dharan me kya rakhyen sawdhanyan ye aur iske alawa aur bhi bhut kuh hai is podcast meapki jankari ke liye...... Subscribe the channel. It's free- https://www.youtube.com/channe/UC5IcI... Facebook- https://www.facebook.com/XzimerOn/ Twitter- https://twitter.com/xzimer?s=09 --- Send in a voice message: https://anchor.fm/xzimer-medicare/message

How Are Genetic Disorders Diagnosed And Treated? || KYA HAI ANUVANSHIK BIMARIYON KA ILAJ? #AnuvanshikBimariyonKaIlaj#GeneticRogKaAyurvedicIlaj#AnuvanshikBimari NaturopathicUpchar#AnuvanshikKeLiyeYog#CureOfGeneticDisorders #DiagnosisOfGeneticDiseases#AnuvanshikBimariKiPahchan #XimerMedicare me aaj ke is podcast me aap janege ki kab kraye jaanch, jeens kitne hote hai, Genetic disease kitane tarah ki hote hai? kya aayurved, naicharopaithee aur yog insb ye bare me aap is podcast me janege....... Subscribe the channel. It's free- https://www.youtube.com/channe/UC5IcI... Facebook-https://www.facebook.com/XzimerOn/ Twitter-https://twitter.com/xzimer?s=09 --- Send in a voice message: https://anchor.fm/xzimer-medicare/message

*Disclaimer: this podcast is not meant to replace medical advice. We are simply sharing our experiences and advice. Also, adult language may be used.Do you have a genetic disorder? Genetics is a complex yet fascinating topic and we’re diving into genetic chronic diseases today. More specifically, we are going to be talking about Derek’s genetic disorder and why it took so long to get diagnosed if it’s genetic.Derek has a rare genetic disorder called TRAPS. We discuss the complexity of this illness, symptoms, and treatment for auto-inflammatory disorders. Join us in today’s episode to learn more about Derek and the rare disease he has!Get in touch by emailing us at beyondyourdiagnosis@gmail.comor messaging us on Instagram @beyondyourdiagnosis. Send us any questions, comments, or episode topics you’d like us to address. You can find Victoria on Instagram @lemonsnlyme @theinfluencehealth and Derek at @chronicloveclub

Fast, we can only do what we already know. This is how the brain works. To learn and master new skills and overcome limitation, the first thing to do is slow way down. Slow actually gets the brain’s attention and stimulates the formation of rich new neural patterns.In this podcast, Anat Baniel and Neil Sharp discuss:the tools for waking up the brain – the 9 Essentials of NeuroMovement®the perception of differences is the source of information for the brainthe Slow Essential and how it helps the brain to improve its ability to perceive differenceshow to use Slow with children with cerebral palsy, genetic disorders, and other special needsrelated questions from the audience

March 2019 See acast.com/privacy for privacy and opt-out information.

Karen Haberberg has spent twelve years as a professional photographer documenting stories of human resilience: the memories of a Holocaust survivor, the daily life of a developmentally disabled young adult working on a farm, and more recently, kids with rare genetic conditions. Karen’s parents lost their first child, Rafi, at age three; he died of Tay–Sachs disease before Karen was born. The memory of the child who died so young is never far from the family’s collective consciousness, and inspired the work on this project. To request a topic to be discussed on the podcast go to:  theashcarroll.com/contact

--- Support this podcast: https://anchor.fm/brad-richardson/support

Ali Gharavi, MD

Thanksgiving Staycation, Genetic Disorders, New Espresso Machine, Fighting Porn Feedback, Explaining Tough Topics to Kids, and Latin Mass. 888-299-8686 to leave feedback and be a part of the show!

In “Orphan: The Quest to Save Children with Rare Genetic Disorders,” Philip Reilly, a clinical geneticist turned venture capitalist, recounts the history of developing therapies to treat rare diseases. We spoke to Reilly, a venture partner with Third Rock Ventures, about his own experiences in the clinic treating patients with rare diseases, how his perspective has changed as a venture investor, and what the future holds in the battle against rare diseases.

Antonella De Matteis, MD Telethon Institute of Genetics and Medicine, Pozzuoli (Naples) - ITALY speaks on "What we can learn from genetic disorders of membrane trafficking".This seminar has been recorded by ICGEB Trieste

Date: 2014-07-26 Topics: Interference Theory Of Human Origins, "Cosmic Abandonment" Presentation, The 4000+ Genetic Disorders in the Human Genome, The Possible Cause of Primary Psychopathy, The Enigma of Human Chromosome #2, The Characteristics of Primary Psychopaths, The Old Testament Vengeful "God" vs. The True Creator, The Origins of Human Religious and Social Institutions, Service To Others, Belief vs Knowledge, Benevolent Non-Human Entities, Civilzation and Technology, Ancient Texts that support the Interference Theory of Human Origins. Related Images: 1 Related Video Links: Llyod Pye - Everything You Know Is Wrong | An Evening With Llyod Pye | Llyod Pye - Homonoids Cosmic Abandonment Slides, Part 1: 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | 23 | 24 | 25 | 26 | 27 | 28 | 29 | 30 | 31 | 32 | 33 | 34 | 35 | 36 | 37 | 38 | 39 | 40 | 41 | 42 | 43 | 44 | 45 | 46 | 47 | 48 | 49 | 50 | 51 | 52 | 53 | 54 | 55 | 56 | 57 | 58 | 59 | 60 | 61 | 62 | 63 | 64 | 65 | 66 | 67 | 68 | 69 | 70 | 71 | 72 | 73 | 74 | 75 | 76 | 77 | 78 | 79 | 80 | 81 | 82 | 83 | 84 | 85 | 86 | 87 | 88 | 89 | 90 | 91 | 92 Cosmic Abandonment Slides, Part 2: 93 | 94 | 95 | 96 | 97 | 98 | 99 | 100 | 101 | 102 | 103 | 104 | 105 | 106 | 107 | 108 | 109 | 110 | 111 | 112 | 113 | 114 | 115 | 116 | 117 | 118 | 119 | 120 | 121 | 122 | 123 | 124 | 125 | 126 | 127 | 128 | 129 | 130 | 131 | 132 | 133 | 134 | 135 | 136 | 137 | 138 | 139 | 140 | 141 | 142 | 143 | 144 | 145 | 146 | 147 | 148 | 149 | 150 | 151 | 152 | 153 | 154 | 155 | 156 | 157 | 158 | 159 | 160 | 161 | 162 | 163 | 164 | 165 | 166 | 167 | 168 | 169 | 170 | 171 | 172 | 173 | 174 | 175 | 176 | 177 | 178 | 179 | 180 | 181 | 182 | 183 | 184 All Cosmic Abandonment Slides: Download here (Zip archive, 48 MB).

Date: 2014-07-19 Topics: Interference Theory Of Human Origins, "Cosmic Abandonment" Presentation, Ancient Megalithic Stone Structures whose construction still cannot be explained or reproduced by modern technology, Lloyd Pye's 12 Ways Human Beings Are Not Primates, The 4000+ Genetic Disorders in the Human Genome, The Possible Cause of Primary Psychopathy, Dealing With Psychopaths under Natural Law, the Human Connection To Nature, the Significance of the RH+ and RH- Factors in Human Blood, Being Honest About Where Humanity Is Right Now, Will and Persistence to Create Change. Related Images: 1 Related Video Links: Brien Foerster | Lloyd Pye | Llyod Pye - Everything You Know Is Wrong | An Evening With Llyod Pye | Llyod Pye - Homonoids Cosmic Abandonment Slides, Part 1:1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | 23 | 24 | 25 | 26 | 27 | 28 | 29 | 30 | 31 | 32 | 33 | 34 | 35 | 36 | 37 | 38 | 39 | 40 | 41 | 42 | 43 | 44 | 45 | 46 | 47 | 48 | 49 | 50 | 51 | 52 | 53 | 54 | 55 | 56 | 57 | 58 | 59 | 60 | 61 | 62 | 63 | 64 | 65 | 66 | 67 | 68 | 69 | 70 | 71 | 72 | 73 | 74 | 75 | 76 | 77 | 78 | 79 | 80 | 81 | 82 | 83 | 84 | 85 | 86 | 87 | 88 | 89 | 90 | 91 | 92 Cosmic Abandonment Slides, Part 2:93 | 94 | 95 | 96 | 97 | 98 | 99 | 100 | 101 | 102 | 103 | 104 | 105 | 106 | 107 | 108 | 109 | 110 | 111 | 112 | 113 | 114 | 115 | 116 | 117 | 118 | 119 | 120 | 121 | 122 | 123 | 124 | 125 | 126 | 127 | 128 | 129 | 130 | 131 | 132 | 133 | 134 | 135 | 136 | 137 | 138 | 139 | 140 | 141 | 142 | 143 | 144 | 145 | 146 | 147 | 148 | 149 | 150 | 151 | 152 | 153 | 154 | 155 | 156 | 157 | 158 | 159 | 160 | 161 | 162 | 163 | 164 | 165 | 166 | 167 | 168 | 169 | 170 | 171 | 172 | 173 | 174 | 175 | 176 | 177 | 178 | 179 | 180 | 181 | 182 | 183 | 184 All Cosmic Abandonment Slides: Download here (Zip archive, 48 MB).

https://www.einstein.yu.edu - Determined to find a treatment for children with the degenerative brain disease Niemann-Pick Type C, Steven Walkley, D.V.M., Ph.D., turned a serendipitous laboratory discovery into a successful national research collaboration with other academic institutions and the National Center for Advancing Translational Sciences' program for rare diseases (Therapeutics for Rare and Neglected Diseases). These efforts led to an NIH Phase 1 clinical trial testing cyclodextrin as a therapy for children with this disease. Dr. Walkley is a professor in the Dominick P. Purpura Department of Neuroscience and director of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center at Albert Einstein College of Medicine.

Dr. Gerald Deas

Plagnol, V (University College London) Tuesday 04 February 2014, 11:30-12:30

Frederic Piel discusses the effect of global migration on the distribution of the sickle-cell gene.

Genetic disorders. Langerhans cell histiocytosis. Leukemia. Acidity. Maintaining a correct pH level. Vaginal pH. Blood pH. Urinary pH. Kidney infections. Iron deficiency. B-12 deficiency. Antacids. Weakening stomach acid. Green coffee beans. Antioxidants. Tuberculosis. Kidney pulses. Maintaining the kidney system. Traditional Chinese Medicine (TCM), Western Perspective, Integrative and Functional Medicine. Live streaming. The Balancing Point health [...]Read More »