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2 episodes with tay sachs
3 episodes with tay sachs
3 episodes with tay sachs
5 episodes with tay sachs
2 episodes with tay sachs
2 episodes with tay sachs
2 episodes with tay sachs
2 episodes with tay sachs
2 episodes with tay sachs
Send us Fan MailSubscribe and unleash your inner science goblin. We see you. We respect it.What happens when your DNA makes a typo?In this episode of Wildly Curious, Katy Reiss and Laura Fawks Lapole dive into the strange, fascinating world of genetic mutations—the tiny changes in DNA that can shape evolution, alter proteins, create disease, or sometimes do absolutely nothing at all. From harmless genetic quirks to serious inherited disorders, this episode breaks down some of the most important mutation types in a way that actually makes sense.
In this episode of Inside the Children's Hospital, Katie Taylor sits down with Dr. Matt Goldstein—physician, biotech leader, and father—who shares the story of his daughter, Havi, and her diagnosis with Tay-Sachs disease. Despite both parents undergoing genetic screening before starting their family, a testing error led to a missed diagnosis. Javi appeared to develop typically at first, but over time, subtle changes led to a life-altering realization: she had a rare, fatal neurodegenerative condition. As a physician, Matt was trained to solve problems. As a parent, he was driven to protect his child. But in the face of a disease with no cure, he and his wife had to redefine what "doing everything" truly meant. From navigating complex medical decisions to choosing presence over intervention, Matt shares how their family embraced a different path—one centered on love, connection, and living fully in the time they had. This conversation is a powerful reflection on grief, meaning, and the transformative impact of parenthood. You'll hear: What it was like to receive a Tay-Sachs diagnosis after reassuring genetic testing How a medical error changed the course of their family's life The emotional tension between medical training and parental instinct What it means to "do everything" in a non-medical way How Havi communicated joy, preferences, and personality without words The role of community and parent-to-parent connection during grief How the family created meaningful traditions, including weekly "Shabirthdays" The impact of loss on identity, purpose, and career direction What You'll Learn in This Episode: What Tay-Sachs disease is and how it affects the body The limitations—and importance—of genetic screening Why preventive genetics is one of the most powerful tools in modern medicine How families can approach decision-making when facing life-limiting diagnoses The importance of redefining quality of life beyond clinical outcomes How grief and love can coexist—and shape the way we live Resources Mentioned E-motion-Non-profit organization created by Myra that supports bereaved mothers JScreen (Genetic Testing & Education) 57 Fridays (memoir by Myra Sack) Emory University's JScreen Program National Tay-Sachs & Allied Diseases Association (NTSAD) Connect with Us Subscribe: Never miss an episode on Apple Podcasts or Spotify. Visit insidethechildrenshospital.com to search stories and episodes easily Follow us on Instagram for updates and opportunities to connect with other parents Download SupportSpot: receive Child Life tools at your fingertips. Leave a Review: It helps other families find us and access our resources! Medical information provided is not a substitute for professional advice—please consult your care team. Keywords: Tay-Sachs disease, Tay-Sachs awareness, rare disease podcast, pediatric rare disease, genetic disorder, infant Tay-Sachs, neurodegenerative disease, parenting a medically complex child, caregiver support, special needs parenting, navigating rare disease, pediatric neurology, genetic testing, childhood illness, family medical journey, emotional support for families, healthcare podcast, Child Life On Call Podcast, family resilience, living with Tay-Sachs
In this episode, we review the high-yield topic of Tay-Sachs Disease from the Pediatrics section at Medbullets.comFollow Medbullets on social media:Facebook: www.facebook.com/medbulletsInstagram: www.instagram.com/medbulletsofficialTwitter: www.twitter.com/medbulletsLinkedin: https://www.linkedin.com/company/medbullets
Comedians Big Jay Oakerson, Luis J. Gomez, and Ari Shaffir celebrate 4/20 a day late with discussions about the Kevin Hart's Funny AF lineup, alien conspiracies, Tay-Sachs disease, vasectomies, and whether they would prefer a gay son or th*t daughter. All This and More, ONLY on The Most Offensive Podcast on Earth, The LEGION OF SKANKS!!!Original Air Date: 04/21/25Support our sponsors!Visit BodyBrainCoffee.com and use code LOS20 for a limited time to get 20% off your order! #BodyBrainPodSupport the show & get 20% off your 1st Sheath order with code SKANKS20 at https://www.sheathunderwear.com #SheathPodSupport the show & get 20% off your first Nic Nac order with code SKANKS at http://NicNac.com/skanks #NicNacPodIf you're 21 or older, get 40% OFF your first order @ IndaCloud with code SKANKS at https://inda.shop/SKANKS #indacloudpodNew customers get 40% off with code SKANKS at http://GLD.com #GLDpod---------------Skankfest X New Orleans badges available at www.skankfest.com!---------------
Dr. Matt Goldstein is the CEO of JScreen, a national nonprofit making genetic testing accessible for cancer and reproductive health. A Stanford-trained MD/PhD who completed his clinical training at Harvard, Dr. Goldstein has led groundbreaking biotech ventures.His commitment to genetic awareness is deeply personal—after losing his daughter, Havi, to Tay-Sachs disease in 2021, he became a passionate advocate for proactive testing and prevention. Through JScreen, Dr. Goldstein honors Havi's legacy by helping families make informed health decisions, most recently leading the record-breaking Pink Power Hour event with NBC's TODAY Show, Mount Sinai Cancer Center, and Myriad Genetics.In This EpisodeJScreenMatt on Instagram @getjscreenedBecome a supporter of this podcast: https://www.spreaker.com/podcast/the-trauma-therapist--5739761/support.You can learn more about what I do here:The Trauma Therapist Newsletter: celebrates the people and voices in the mental health profession. And it's free! Check it out here: https://bit.ly/4jGBeSa———If you'd like to support The Trauma Therapist Podcast and the work I do you can do that here with a monthly donation of $5, $7, or $10: Donate to The Trauma Therapist Podcast.Click here to join my email list and receive podcast updates and other news.Thank you to our Sponsors:Jane App - use code GUY1MO at https://jane.appArizona Trauma Institute at https://aztrauma.org/
Dr. Matt Goldstein, CEO of jscreen, focuses on the importance and power of preventive genetic testing for reproductive carrier screening and hereditary cancer screening. All genetic tests include analysis to inform specific medical management plans and provide genetic counselors to explore options. Of particular interest is testing for the gene mutations that cause Tay-Sachs disease and helping families take proactive steps to effectively eliminate the disease in future generations. Matt explains, "So, jscreen is a nonprofit that focuses on providing access to education and high-touch support to individuals, families, and to clinicians in the area of preventive genetics and more specifically for reproductive carrier screening and hereditary cancer screening. "These types of tests actually have been around for a really long time with the advancement in genomic technology and our knowledge generally of genetics. The capabilities we have around these panels—what we can test for and what we can do with them—have grown tremendously over the last two decades. And so, what we're offering now is completely different than what you may have been offered five or 10 years ago." "What I will say is I think that this technology is the most powerful medical intervention that we have. Maybe second to vaccines, which we know obviously can have profound impacts on saving lives, preventive genetics, the ability to screen an individual or a couple or a family, and identify diseases that they may be at risk for, with things that you can do to prevent those diseases from happening or catch them early. That's the holy grail. That's the most amazing thing: being able to intervene." #jscreen #GeneticTesting #TaySachsDisease #ReproductiveCarrierScreening #HereditaryCancerScreening jscreen.org Download the transcript here
Dr. Matt Goldstein, CEO of jscreen, focuses on the importance and power of preventive genetic testing for reproductive carrier screening and hereditary cancer screening. All genetic tests include analysis to inform specific medical management plans and provide genetic counselors to explore options. Of particular interest is testing for the gene mutations that cause Tay-Sachs disease and helping families take proactive steps to effectively eliminate the disease in future generations. Matt explains, "So, jscreen is a nonprofit that focuses on providing access to education and high-touch support to individuals, families, and to clinicians in the area of preventive genetics and more specifically for reproductive carrier screening and hereditary cancer screening. "These types of tests actually have been around for a really long time with the advancement in genomic technology and our knowledge generally of genetics. The capabilities we have around these panels—what we can test for and what we can do with them—have grown tremendously over the last two decades. And so, what we're offering now is completely different than what you may have been offered five or 10 years ago." "What I will say is I think that this technology is the most powerful medical intervention that we have. Maybe second to vaccines, which we know obviously can have profound impacts on saving lives, preventive genetics, the ability to screen an individual or a couple or a family, and identify diseases that they may be at risk for, with things that you can do to prevent those diseases from happening or catch them early. That's the holy grail. That's the most amazing thing: being able to intervene." #jscreen #GeneticTesting #TaySachsDisease #ReproductiveCarrierScreening #HereditaryCancerScreening jscreen.org Listen to the podcast here
In her award-winning new book — Fifty-seven Fridays: Losing our Daughter, Finding our Way — Myra Sack writes about losing her young daughter, Havi, to Tay-Sachs disease and discovering essential truths about love and joy … ritual and community … born from wrenching grief. Myra joins Exit Strategy host Stephanie Garry in a conversation of […] The post Moving Through the Loss appeared first on Plaza Jewish Community Chapel.
What does it mean to celebrate life in the face of profound loss, and how can that act transform not only grief, but those who witness it? Tune in for an inspiring discussion with Myra Sack on her new book Fifty-Seven Fridays: Losing Our Daughter, Finding Our Way.Moments with Marianne airs in the Southern California area on KMET1490AM & 98.1 FM, an ABC Talk News Radio affiliate! https://www.kmet1490am.comMyra Sack is the author of Nautilus award-winning memoir, "Fifty-Seven Fridays: Losing Our Daughter Finding Our Way," and founder of E-Motion, Inc., a nonprofit organization created to support community, movement and ritual to enhance coping and resilience. Myra's life changed when her older daughter, Havi, died on January 20, 2021 of Tay-Sachs disease. Myra is a certified Compassionate Bereavement Care provider, holds an MBA in Social Impact from Boston University, and graduated with a B.A. cum laude from Dartmouth College. Myra's writing has been featured in the Boston Globe, Kveller, People, Hadassah Magazine, Today and Upworthy. Myra serves on the Board of the Courageous Parents Network and lives in Boston, MA with her family. https://www.myrasack.com https://www.emotion-mc.orgFor more show information visit: www.MariannePestana.com
On this episode of Talking Away The Taboo, Estie Rose, MS, CGC, Heather Hipp, MD, and Gail Heyman, join Aimee Baron, MD for the second episode of our 5-part IWSTHAB x JSCREEN Podcast series is all about Fragile X. When people think of genetic testing before pregnancy, they often think of Tay-Sachs or cystic fibrosis—but Fragile X is just as important and far less understood. In this episode, Estie Rose and Dr. Heather Hipp explain the difference between recessive and X-linked conditions, what it means to be a Fragile X carrier, and how it can affect fertility and family planning. We also hear from Gail Heyman, who shares her deeply personal journey navigating Fragile X in her own family—and how that led her to advocacy. Whether you're building your family or supporting someone who is, this episode is filled with insight, honesty, and heart. -Click here to watch Part 1: Introduction to Genetics and Infertility More about Estie: Estie Rose is a certified genetic counselor at jscreen. She has a special interest in community education and serves as a resource for individuals who are facing genetic health issues. Connect with Estie: -Follow her on Instagram More about Heather: Dr. Heather Hipp is a Reproductive Endocrinology and Infertility (REI) physician and an Associate Professor at Emory University School of Medicine. She earned her undergraduate degree at Duke University and then her MD degree at Emory University, where she continued her training in residency and fellowship. She is the Program Director for the REI fellowship at Emory and serves as chair for the American Society for Reproductive Medicine Education Committee. Her profession memberships include American College of Obstetrics and Gynecology, American Society for Reproductive Medicine, Alpha Omega Alpha Honor Society, and American Gynecological & Obstetrical Society. She is also on the National Fragile X Foundation Scientific and Clinical Advisory Committee. Her research focuses on women who are carriers for the fragile X mutation and their risk of premature ovarian insufficiency, as well as trends and outcomes of in-vitro fertilization (IVF) in the United States. More about Gail: Gail Heyman is a passionate advocate and leader in the Fragile X community. After her son was diagnosed in 1989, she co-founded the Fragile X Association of Georgia and has served as its director ever since. Her family's experience—spanning three generations affected by Fragile X conditions—fuels her tireless work to raise awareness, promote research, and support others navigating similar challenges. Gail also serves on JScreen's advisory board and has received national recognition for her leadership in genetic advocacy and inclusion. -Click here to learn more about Gail's story -Check out Carly Heyman's book, My eXtra Special Brother -Learn more about Fragile X here Connect with JScreen: -Visit their website -Coupon Code: IWSTHAB18 for $18 off initial testing (no expiration date on this offer) -Follow JScreen on 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
Katie and Allie's story began in childhood with unexplained clumsiness and subtle symptoms that intensified over time. After years of searching for answers, Katie was diagnosed with late-onset Tay-Sachs (LOTS), a rare neurodegenerative disease. Further testing confirmed her twin sister Allie's diagnosis as well. Despite facing daily challenges ranging from mobility issues to emotional strain, the sisters have become passionate advocates, raising over $1 million for research and awareness. With humor, grit, and the support of their family—especially their powerhouse mom—they continue to live fully and inspire the rare disease community. In this moving episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio Gene Therapy, speak with Katie and Allie, who share their experience with late-onset Tay-Sachs. The episode explores how Tay-Sachs, typically diagnosed in childhood, can present in adulthood, the emotional toll of navigating a progressive rare disease, and the resilience of a close-knit sibling duo who've turned advocacy into action. Diana Jussila, Director of Family Services at the National Tay-Sachs & Allied Diseases Association (NTSAD), provides essential insights into late-onset Tay-Sachs disease, a rare, progressive, neurodegenerative condition caused by mutations in the HEXA gene leading to deficiency of the Hex A enzyme. Without this enzyme, toxic substances accumulate in the brain and spinal cord, resulting in symptoms like muscle weakness, balance issues, speech difficulties, and psychiatric challenges. With no approved treatments and only supportive care available, community connection, advocacy, and ongoing research are vital lifelines for those living with late-onset Tay-Sachs disease.
In this deeply moving episode we talked with Myra Sack about the love, loss, and legacy of her daughter, Havi. Diagnosed with Tay-Sachs disease at just 15 months old, Havi's life was brief but profoundly impactful. Myra shares how she and her family navigated the unbearable reality of their daughter's illness and death, including transforming their Shabbat ritual into "Shabbirthdays" held every Friday to celebrate Havi's life. Myra reflects on the arduous medical rollercoaster that led to Havi's Tay-Sachs diagnosis, the challenges of navigating a world that struggles to support the bereaved, and how she and her family find solace in sharing Havi's legacy with others. She also discusses her memoir, Fifty-Seven Fridays, and how she started E-Motion, Inc. an organization that harnesses movement, community, and ritual to support those who are grieving. We discuss: The ongoing presence of grief, particularly during milestone moments and everyday life. How Myra and her husband Matt created the Shabbirthday ritual to honor Havi each week. How Havi continues to teach others even after her death. The impact of isolation for grieving families and the struggle of navigating social norms post-diagnosis. Finding ways to stay connected to Havi through rituals, storytelling, and shared memories. Myra's journey into grief education and the founding of E-Motion, which supports people who are grieving through movement and community. The need for more grief-informed communities. Resources & Links: Fifty-Seven Fridays by Myra Sack E-Motion What Happened to You? By Bruce D. Perry & Oprah Winfrey Connect With Us: Have thoughts on this episode? We'd love to hear from you! Email us at griefoutloud@dougy.org or visit our website for more resources and past episodes.
Empowering Lives Through Genetic Testing with Dr. Matt Goldstein Jscreen.org About the Guest(s): Dr. Matt Goldstein is a renowned physician, scientist, and entrepreneur dedicated to advancing genetic research. As the CEO of JScreen, he is committed to providing accessible and life-saving genetic testing to empower individuals with crucial health insights. With a background in biotech, he has spearheaded significant initiatives, playing pivotal roles at entities like Tango Therapeutics and Neon Therapeutics. Dr. Goldstein holds an MD and PhD from Stanford University and completed his clinical training at Harvard Medical School. His dedication to proactive health management is deeply personal, influenced by the tragic loss of his eldest daughter. Episode Summary: In this engaging episode of The Chris Voss Show Podcast, host Chris Voss converses with the distinguished Dr. Matt Goldstein, CEO of JScreen, about revolutionary developments in genetic research and testing. Dr. Goldstein guides listeners through the intricacies of genetic testings, such as preconception carrier screening, which assesses potential hereditary conditions to better inform family planning decisions. He articulates the profound impact these advancements have on personal healthcare, influenced by his own heartbreaking experiences, notably the loss of his eldest daughter to a genetic disorder. The conversation delves into two primary testing services offered by JScreen. Dr. Goldstein explains reproductive carrier screening, designed for individuals who plan to start families, and hereditary cancer testing, meant to identify cancer risks through genetic markers. The episode sheds light on complex parenting decisions that may arise from these tests, strategies for managing genetic risks, and the potential of technologies like CRISPR to alter gene structures as future solutions. Packed with relevant insights on prenatal health, genetic testing's significance, and the latest advancements in biotechnology, this episode underscores the importance of proactive health management. Key Takeaways: JScreen provides accessible genetic testing that informs individuals about hereditary health risks, fostering proactive health management. The reproductive carrier screening mainly benefits those considering starting a family, while hereditary cancer testing helps assess cancer risks. CRISPR technology presents a promising future by allowing scientists to edit genes, potentially eradicating inherited diseases. Knowledge from genetic testing empowers individuals, enabling informed family planning and mitigating hereditary disease impact. Dr. Goldstein's personal journey, marked by his daughter's passing due to Tay-Sachs disease, highlights the essential value of precise genetic screening and its life-altering implications. Notable Quotes: "Prevention is the most powerful tool we have in healthcare." "CRISPR technology is an incredible advancement that allows us to cut and paste DNA." "The ability to use genetic testing to inform family planning decisions is an incredibly powerful technology." "Nearly everyone will carry a variant that makes them a carrier for some disease." "Our daughter was born on our wedding anniversary, and before long, we began a diagnostic odyssey."
Matthew Goldstein MD, PHD is an entrepreneur, and the CEO of Jscreen, a genetic screening initiative originated out of Emory University. His journey to this role was deeply personal. After the tragic loss of his daughter Havi to Tay-Sachs disease, he dedicated himself to preventing similar experiences for other families. This experience became a driving force behind his work at Jscreen, which focuses on genetic screening for hereditary conditions like Tay-Sachs.For more, you can follow the show on Instagram @GraceforimpactpodcastProduced by Peoples Media Hosted on Acast. See acast.com/privacy for more information.
The discovery of a dead baby found in a cooler floating on the Hudson inspires SVU to JD Vance levels of state aggression towards pregnant people. They cast aspersions at every customer of a beloved uptown health food store then wantonly ruin the lives of every family member of every Hudson U student they can find. Sadly, after a fast-paced first act, this settles into a paint-by-numbers Tay-Sachs morality play for the second half.Sources:Tay-Sachs - Cleveland ClinicMusic:Divorcio Suave - "Munchy Business"Thanks to our gracious Munchies on Patreon: Jeremy S, Jaclyn O, Amy Z, Nikki B, Diana R, Tony B, Zak B, Barry W, Drew D, Nicky R, Stuart, Jacqi B, Natalie T, Robyn S, Christine L, Amy A, Sean M, Jay S, Briley O, Asteria K, Suzanne B, Tim Y, Douglas P, John P, John W, Elia S, Rebecca B, Lily, Sarah L, Melsa A, Alyssa C, Johnathon M, Tiffany C, Brian B, Kate K, and Whitney C - y'all are the best!Be a Munchie, too! Support us on Patreon: patreon.com/munchmybensonBe sure to check out our other podcast diving into long unseen films of our guests' youth: Unkind Rewind at our website or on YouTube, Apple Podcasts, or wherever you listen to podcastsFollow us on: BlueSky, Twitter, Facebook, Instagram, Threads, and Reddit (Adam's Twitter/BlueSky and Josh's Twitter/BlueSky/Letterboxd/Substack)Join our Discord: Munch Casts ServerCheck out Munch Merch: Munch Merch at ZazzleCheck out our guest appearances:Both of us on: FMWL Pod (1st Time & 2nd Time), Storytellers from Ratchet Book Club, Chick-Lit at the Movies talking about The Thin Man, and last but not least on the seminal L&O podcast …These Are Their Stories (Adam and Josh).Josh debating the Greatest Detectives in TV History on The Great Pop Culture Debate Podcast and talking SVU/OC on Jacked Up Review Show.Visit Our Website: Munch My BensonEmail the podcast: munchmybenson@gmail.comNext Week's Episode: Season 20, Episode 9 "Mea Culpa"Become a supporter of this podcast: https://www.spreaker.com/podcast/munch-my-benson-a-law-order-svu-podcast--5685940/support.
Myra Sack joins Let's Talk Memoir for a conversation about losing her very young daughter Havi to Tay-Sachs, a fatal neurodegenerative disease, maternal and parental intuition, compassionate bereavement, how her new memoir is as much a story of extraordinary love as it is immense grief, when writing is cellular, the language of loss, generating work vs. revising it, the balm of rituals, inviting readers into her grief's most intimate spaces, and her memoir Fifty-Seven Fridays. Also in this episode: -unconditional love -writing fresh grief -taking care of ourselves Books mentioned in this episode: Bearing the Unbearable by Joanne Cacciatore To Bless the Space Between Us by John O'Donohue Tuesdays with Morrie by Mitch Albom Traveling Mercies by Anne Lamott When Breath Becomes Air by Paul Kalanithi Books by Rachel Naomi Remen Myra Sack graduated with a B.A in government and All-American Honors in 2010 from Dartmouth College, where she captained the women's varsity soccer team. She earned a post-graduate Lombard Fellowship in Granada, Nicaragua with Soccer Without Borders. Following her lifelong passion for sports and social justice, Myra joined SquashBusters, Inc., in Boston in 2013, serving as their Chief Program and Strategy Officer. Myra has an MBA in Social Impact from Boston University and is trained as a Certified Compassionate Bereavement Care provider by Dr. Joanne Cacciatore. She serves on the Board of the Courageous Parents Network and is the Founder of E-Motion, Inc., a non-profit organization with a mission to ensure community is a right for all grieving people. Her first memoir, Fifty-Seven Fridays, was released in April 2024. A writer, coach, and activist, Myra and her husband Matt, live in Boston, MA with their second daughter, Kaia, and son Ezra. Myra's oldest daughter, Havi, passed away on January 20, 2021 of Tay-Sachs disease. E-Motion, Inc.: www.emotion-mc.org Get Myra's Book: https://www.amazon.com/Fifty-seven-Fridays-Losing-Daughter-Finding-ebook/dp/B0CRD4W7NV LinkedIn: https://www.linkedin.com/in/myra-sack/ Instagram: https://www.instagram.com/myrasack Twitter: https://x.com/myrasack — Ronit's writing has appeared in The Atlantic, The Rumpus, The New York Times, The Iowa Review, Hippocampus, The Washington Post, Writer's Digest, American Literary Review, and elsewhere. Her memoir WHEN SHE COMES BACK about the loss of her mother to the guru Bhagwan Shree Rajneesh and their eventual reconciliation was named Finalist in the 2021 Housatonic Awards Awards, the 2021 Indie Excellence Awards, and was a 2021 Book Riot Best True Crime Book. Her short story collection HOME IS A MADE-UP PLACE won Hidden River Arts' 2020 Eludia Award and the 2023 Page Turner Awards for Short Stories. She earned an MFA in Nonfiction Writing at Pacific University, is Creative Nonfiction Editor at The Citron Review, and lives in Seattle with her family where she teaches memoir workshops and is working on her next book. More about Ronit: https://ronitplank.com Sign up for monthly podcast and writing updates: https://bit.ly/33nyTKd Substack: https://substack.com/@ronitplank Newsletter sign-up: https://ronitplank.com/#signup Follow Ronit: https://www.instagram.com/ronitplank/ https://twitter.com/RonitPlank https://www.facebook.com/RonitPlank Background photo credit: Photo by Patrick Tomasso on Unsplash Headshot photo credit: Sarah Anne Photography Theme music: Isaac Joel, Dead Moll's Fingers
Myra Sack and her husband Matt were very lucky. They had fallen in love with the right person, had work they were deeply committed to and had a new baby. Into the middle of their charmed life came the worst possible news; their perfect daughter had Tay-Sachs disease. She would live a very short life. A mistake in the testing they had received for Tay-Sachs blindsighted them. Reeling from the news and immersed in the question of how they could possibly live out this time, they decided they would celebrate Havi every day of her life. And every Friday they would gather friends and family in their home for Shabbirthday. They would love her and cherish her and hold her as if each Friday was both a holy shabbat and a wonderful birthday party. They had no way to imagine how they would grieve her, but they decided to live fully with her as long as they could with whoever also wanted to grace this beautiful child with their love. And with that simple promise, they found a way to put one foot after the other.
Myra Sack and her husband Matt were very lucky. They had fallen in love with the right person, had work they were deeply committed to and had a new baby. Into the middle of their charmed life came the worst possible news; their perfect daughter had Tay-Sachs disease. She would live a very short life. A mistake in the testing they had received for Tay-Sachs blindsighted them. Reeling from the news and immersed in the question of how they could possibly live out this time, they decided they would celebrate Havi every day of her life. And every Friday they would gather friends and family in their home for Shabbirthday. They would love her and cherish her and hold her as if each Friday was both a holy shabbat and a wonderful birthday party. They had no way to imagine how they would grieve her, but they decided to live fully with her as long as they could with whoever also wanted to grace this beautiful child with their love. And with that simple promise, they found a way to put one foot after the other.
Guest: ✨ Dr. Neal Baer, Co-Director, Master's Degree Program in Media, Medicine, and Health, Harvard Medical SchoolOn LinkedIn | https://www.linkedin.com/in/neal-baer/On Twitter | https://x.com/NealBaerOn Facebook | https://www.facebook.com/neal.baer.75/On Instagram | https://www.instagram.com/nealbaer/____________________________Host: Marco Ciappelli, Co-Founder at ITSPmagazine [@ITSPmagazine] and Host of Redefining Society PodcastOn ITSPmagazine | https://www.itspmagazine.com/itspmagazine-podcast-radio-hosts/marco-ciappelli_____________________________This Episode's SponsorsBlackCloak
JScreen is a national non-profit public health initiative dedicated to preventing genetic diseases. Headquartered in Atlanta at Emory University School of Medicine, the JScreen initiative provides convenient at-home access to cutting-edge genetic testing technology, patient education and genetic counseling services. JScreen believes the combination of education, access to premier gene screening technologies and personalized, confidential support are the keys to preventing these devastating diseases. The goal is to get as many people tested for both genetic diseases and for genetic cancers. For genetic diseases it allows future parents to gain insights into their genetic reproductive risks, empowering them to plan ahead for the health of their future children.It is also provides an opportunity to explore their own hereditary cancer risks and proactive measures they can adopt to safeguard their own well-being. The goal is to educate people about how simple and easy genetic testing and affordable. All you have to do is order a saliva test, return to Jscreen and your results are presented to you by telemedicine from a genetic counselor. JScreen stands as a beacon of hope, providing accessible and informative genetic testing and counseling via at-home saliva kits.JScreen's ReproGEN test, tailored for individuals aged 18-45, screens for over 200 genetic diseases, including Tay-Sachs and cystic fibrosis. Empowering prospective parents with informed family planning information is the core of this comprehensive approach. JScreen's CancerGEN offers at-home testing for more than 60 cancer susceptibility genes associated with hereditary risks for breast, ovarian, prostate, colorectal, skin and many other cancers. One of JScreen's goals is to make testing affordable. ReproGEN currently costs $149 and CancerGEN is $199. JScreen also offers need-based financial assistance. www.jscreen.orgKaren Grinzaid, Exeutive Director, visits with Mark on this edition. Become a supporter of this podcast: https://www.spreaker.com/podcast/late-night-health-radio--2804369/support.
JScreen is a national non-profit public health initiative dedicated to preventing genetic diseases. Headquartered in Atlanta at Emory University School of Medicine, the JScreen initiative provides convenient at-home access to cutting-edge genetic testing technology, patient education and genetic counseling services. JScreen believes the combination of education, access to premier gene screening technologies and personalized, confidential support are the keys to preventing these devastating diseases. The goal is to get as many people tested for both genetic diseases and for genetic cancers. For genetic diseases it allows future parents to gain insights into their genetic reproductive risks, empowering them to plan ahead for the health of their future children.It is also provides an opportunity to explore their own hereditary cancer risks and proactive measures they can adopt to safeguard their own well-being. The goal is to educate people about how simple and easy genetic testing and affordable. All you have to do is order a saliva test, return to Jscreen and your results are presented to you by telemedicine from a genetic counselor. JScreen stands as a beacon of hope, providing accessible and informative genetic testing and counseling via at-home saliva kits.JScreen's ReproGEN test, tailored for individuals aged 18-45, screens for over 200 genetic diseases, including Tay-Sachs and cystic fibrosis. Empowering prospective parents with informed family planning information is the core of this comprehensive approach. JScreen's CancerGEN offers at-home testing for more than 60 cancer susceptibility genes associated with hereditary risks for breast, ovarian, prostate, colorectal, skin and many other cancers. One of JScreen's goals is to make testing affordable. ReproGEN currently costs $149 and CancerGEN is $199. JScreen also offers need-based financial assistance. www.jscreen.orgKaren Grinzaid, Exeutive Director, visits with Mark on this edition. Become a supporter of this podcast: https://www.spreaker.com/podcast/late-night-health-radio--2804369/support.
Join us for an enlightening episode of "Egg Meets Sperm" featuring the esteemed Jaclyn Downs as we delve into the intricacies of "Genetic Insights for Fertility: From Nutrigenomics to Epigenetics." Jaclyn expertly navigates essential topics crucial for anyone seeking to improve their reproductive health, including the differences between nutrigenomics and genetics, the MTHFR misnomer, the importance of folate vs. folic acid, and other SNPs to assess. She also discusses oxidative stress and inflammation, highlighting lesser-known root causes such as histamine, mold/mycotoxins, oxalates, fatty acid utilization, and detoxification pathways. Jaclyn shares insights from her book, detailing how functional genomics can reveal answers to puzzling fertility challenges and why investing in understanding one's genetic blueprint—focusing on actionable genes rather than true mutations like Tay Sachs or muscular dystrophy—is vital for anyone on a fertility journey. Don't miss this opportunity to gain valuable knowledge and empower your reproductive health with expert guidance from Jaclyn Downs. Jaclyn Downs is a functional nutrigenomics practitioner and author of the academically published book, Enhancing Fertility through Functional Medicine: Using Nutrigenomics to Solve 'Unexplained' Infertility (Taylor & Francis). She uses functional genomics (which is genes you can actually do something about), a meticulous intake, and functional lab testing to identify and support root causes of puzzling health challenges of all sorts. Gift to listeners: https://jaclyn-downs.mykajabi.com/free-cheatsheet-how-genetic-testing-solves-unexplained-infertility Follow Jaclyn Downs on: Instagram: https://www.instagram.com/functionalfertilitysolutions/ Follow me on: Instagram: @holisticfertilitydoctor TikTok: @holisticfertilitydoctor Youtube: @Holistic Fertility Expert Facebook: Join our private Fertile AF tribe!
Sex.Love.Power.: The intimacy podcast for powerful women & those who love them
Today, I'm so grateful to share with you a profoundly moving conversation with Myra Sack, a woman who embodies the essence of resilience and intimacy with life.In her newly released book, 57 Fridays: Losing Our Daughter, Finding Our Way, Myra brings us into the intimate journey through the immense grief of losing her daughter, Havi, to Tay-Sachs disease. I wanted to bring Myra onto the show to explore the delicate balance between the most painful and beautiful moments of our lives. This episode is an exploration of how we can navigate our deepest fears and emerge with a stronger, more intimate connection to ourselves and others.It's a must-listen for anyone seeking to face their pain and find a source of profound connection and authenticity.In this episode, you'll hear about:Myra's practice of "Shabbirthdays" and the power of ritual in creating sacred spaces for healing and connectionHow to face and embrace fear to avoid being paralyzed by itThe importance of emotional granularity in understanding and articulating our feelings to better navigate life's challenges.The role of self-awareness and self-trust in developing psychological resilience and maintaining our sense of self amidst grief and loss.How to foster meaningful connections and community support during times of profound personal crisis.And more. “We are so afraid to turn towards the deepest, most painful, real reality that we miss the opportunity to experience the deepest joy and the fullest love”Get your copy of 57 Fridays: Losing Our Daughter, Finding Our WayLearn about E-Motion, the non-profit Myra founded to “support community, movement and ritual to enhance coping and resilience”Follow Myra on Instagram @myrasackMay you find the courage to embrace both the beauty and the pain in your life, allowing them to coexist and transform you in ways you never thought possible. Let this episode inspire you to seek out and create sacred spaces for yourself and your loved ones, fostering deeper connections and a richer, more authentic experience of living.If the conversations on this podcast are resonating for you and you want to create the love, sex, and aliveness you desire with more ease, I invite you to enter a deeper relationship with me, through private coaching or my group mentorship program. Either way, you get powerful tools, conversation cheat sheets, meditations, and my loving and skillful attention every month, so your capacity for the pleasure and joy you want grows, continuously. CLICK HERE to apply for a consultation. If the conversations on this podcast are resonating for you, please leave a rating and ideally a review on your favorite podcast platform.Ready to bring about a transformation in your relationship to yourself, your body, and your partner? CLICK HERE to apply for a consultation.
At fifteen months old, Havi was diagnosed with Tay-Sachs, a fatal neurodegenerative disease that can be revealed through genetic testing but was misreported to the couple. Havi was given just a year to live. Myra and Matt decide to celebrate Havi's short life and vow to show her as much of the world as they can and they do. This episode is a beautiful and moving discussion about two parents' poignant and tragic journey to help their daughter. Myra and Matt's hope is that as Havi's messengers they will make the lives of others a bit gentler, a bit more beautiful, a bit more forgiving, a bit more generous. For more information visit: www.emotion-mc.org or www.myrasack.com. Email your parenting questions to Dr. Dan podcast@drdanpeters.com (we might answer on a future episode). Follow us @parentfootprintpodcast (Instagram, Facebook) and @drdanpeters (X). Learn about more podcasts @exactlyright on Instagram. Please listen, follow, rate, and review on Apple Podcasts, Spotify, or wherever you listen to podcasts. For more information: www.exactlyrightmedia.com www.drdanpeters.com Learn more about your ad choices. Visit megaphone.fm/adchoices
Myra Sack and her husband Matt were very lucky. They had fallen in love with the right person, had work they were deeply committed to and had a new baby. Into the middle of their charmed life came the worst possible news; their perfect daughter had Tay-Sachs disease. She would live a very short life. A mistake in the testing they had received for Tay-Sachs blindsighted them. Reeling from the news and immersed in the question of how they could possibly live out this time, they decided they would celebrate Havi every day of her life. And every Friday they would gather friends and family in their home for Shabbirthday. They would love her and cherish her and hold her as if each Friday was both a holy shabbat and a wonderful birthday party. They had no way to imagine how they would grieve her, but they decided to live fully with her as long as they could with whoever also wanted to grace this beautiful child with their love. And with that simple promise, they found a way to put one foot after the other.
Myra Sack and her husband Matt were very lucky. They had fallen in love with the right person, had work they were deeply committed to and had a new baby. Into the middle of their charmed life came the worst possible news; their perfect daughter had Tay-Sachs disease. She would live a very short life. A mistake in the testing they had received for Tay-Sachs blindsighted them. Reeling from the news and immersed in the question of how they could possibly live out this time, they decided they would celebrate Havi every day of her life. And every Friday they would gather friends and family in their home for Shabbirthday. They would love her and cherish her and hold her as if each Friday was both a holy shabbat and a wonderful birthday party. They had no way to imagine how they would grieve her, but they decided to live fully with her as long as they could with whoever also wanted to grace this beautiful child with their love. And with that simple promise, they found a way to put one foot after the other.
Myra Sack and her husband Matt were very lucky. They had fallen in love with the right person, had work they were deeply committed to and had a new baby. Into the middle of their charmed life came the worst possible news; their perfect daughter had Tay-Sachs disease. She would live a very short life. A mistake in the testing they had received for Tay-Sachs blindsighted them. Reeling from the news and immersed in the question of how they could possibly live out this time, they decided they would celebrate Havi every day of her life. And every Friday they would gather friends and family in their home for Shabbirthday. They would love her and cherish her and hold her as if each Friday was both a holy shabbat and a wonderful birthday party. They had no way to imagine how they would grieve her, but they decided to live fully with her as long as they could with whoever also wanted to grace this beautiful child with their love. And with that simple promise, they found a way to put one foot after the other.
Kathryn interviews Author Myra Sack.When their daughter Havi was a year old, Myra Sack and her physician husband Matt Goldstein noticed delays in her physical development. After physical therapy was prescribed with no noticeable progress, and more developmental milestones were missed, Myra and Matt, driven to find answers, sought out pediatric specialists. On December 17, 2019, their world was shattered. At fifteen months old, Havi was diagnosed with Tay-Sachs, a fatal neurodegenerative disease that can be revealed through genetic testing but was misreported to the couple. Havi was given just a year to live. Sack offers the readers nothing short of “an act of grace” in her memoir of Havi's short life and the tragic journey to help her daughter live and die. She is certified in Compassionate Bereavement Care and has written for numerous publications including the Boston Globe, Upworthy, Hadassah Magazine and TODAY.com.Kathryn also interviews Author Kyne Santos.Kyne Santos began her drag career while at university and became known for her drag tutorials on YouTube. In 2020, she appeared on the first season of Canada's Drag Race where she fought not only for the crown, but also screen time. Following her tv appearance, she took to TikTok (onlinekyne) to make short-form math videos where she tells riddles, gives math lessons, and teaches her followers how to spot misleading statistics in media, all while dressed in high-glamour drag. She now reaches more than 1.5 million viewers and is a sought-after partner, working with brands such as Yahoo, L'Oreal, MAC Cosmetics, Pinterest, UN High Commissioner for Refugees, and more. Kyne has appeared on TODAY.com, ABC News, and NPR's Short Wave.
Kathryn interviews Author Myra Sack.When their daughter Havi was a year old, Myra Sack and her physician husband Matt Goldstein noticed delays in her physical development. After physical therapy was prescribed with no noticeable progress, and more developmental milestones were missed, Myra and Matt, driven to find answers, sought out pediatric specialists. On December 17, 2019, their world was shattered. At fifteen months old, Havi was diagnosed with Tay-Sachs, a fatal neurodegenerative disease that can be revealed through genetic testing but was misreported to the couple. Havi was given just a year to live. Sack offers the readers nothing short of “an act of grace” in her memoir of Havi's short life and the tragic journey to help her daughter live and die. She is certified in Compassionate Bereavement Care and has written for numerous publications including the Boston Globe, Upworthy, Hadassah Magazine and TODAY.com.Kathryn also interviews Author Kyne Santos.Kyne Santos began her drag career while at university and became known for her drag tutorials on YouTube. In 2020, she appeared on the first season of Canada's Drag Race where she fought not only for the crown, but also screen time. Following her tv appearance, she took to TikTok (onlinekyne) to make short-form math videos where she tells riddles, gives math lessons, and teaches her followers how to spot misleading statistics in media, all while dressed in high-glamour drag. She now reaches more than 1.5 million viewers and is a sought-after partner, working with brands such as Yahoo, L'Oreal, MAC Cosmetics, Pinterest, UN High Commissioner for Refugees, and more. Kyne has appeared on TODAY.com, ABC News, and NPR's Short Wave.
It Happened To Me: A Rare Disease and Medical Challenges Podcast
In our last episode (#32), we had the privilege of speaking with Matthew Goldstein, CEO of JScreen, about genetic screening. In this conversation, we are honored to welcome his wife, Myra Sack, a writer, coach, and activist, to share her family's journey and honor the memory of their daughter, Havi, who passed away from Tay-Sachs disease in 2021. Myra Sack is not only a dedicated parent but also a passionate advocate and writer. Her memoir, Fifty-Seven Fridays, is a poignant reflection on navigating life's most painful realities and finding beauty amidst grief. With a background in social impact and bereavement care, Myra's insights offer invaluable guidance for those facing medical challenges and grief. Exploring Tay-Sachs Disease: - Myra shares insights into Tay-Sachs disease, educating our audience about its impact and challenges faced by individuals with the condition. Preconception Screening Journey: - We delve into Myra and Matthew's journey with genetic testing and preconception screening, highlighting the importance of awareness and informed decision-making. Coping with Diagnosis: - Myra reflects on coping with the shock and emotional impact of Havi's Tay-Sachs diagnosis, offering personal insights into their family's journey. Fifty-Seven Fridays: - Myra discusses her memoir, Fifty-Seven Fridays, sharing its purpose and the therapeutic process of writing it amidst grief. Learning to Coexist with Grief: - Myra shares wisdom on learning to coexist with grief, offering invaluable advice and insights for those facing medical challenges and loss. Role of Support Networks: - We explore the role of organizations like the Courageous Parents Network and E-Motion, Inc., in providing support and resources for grieving individuals and families. Parting Words of Wisdom: - Myra offers heartfelt advice and parting words of wisdom for our listeners, encouraging resilience and embracing community amidst challenges. As we conclude our conversation with Myra Sack, we are reminded of the resilience of the human spirit and the power of sharing our stories to inspire and uplift others. Join us in honoring Havi's memory and embracing the journey of learning to coexist with grief. Check out Myra's organization, Emotion, which is for grieving individuals to find community and cope with loss. And of course, her upcoming book, Fifty-Seven Fridays, which consists of memoirs from Matt and Myra, Havi's diagnosis, and how they celebrated her life. 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.
It Happened To Me: A Rare Disease and Medical Challenges Podcast
A physician-scientist father shares his heartbreaking story of the death of his daughter who was diagnosed with Tay-Sachs disease and how it motivated him to become the CEO of JScreen to prevent this experience in other families. Matt Goldstein is a physician-scientist and entrepreneur. He has founded companies, built R&D teams, and led strategy and execution of both pre-clinical research and clinical development. Prior to joining JScreen and Emory University, Matt was a Partner at Related Sciences, a venture creation firm. As an entrepreneur at Third Rock Ventures he spent a decade building and operating Third Rock portfolio companies. He was responsible for building and leading the Immunology program at Tango Therapeutics, the centerpiece of Tango's strategic multi-billion dollar partnership with Gilead Sciences, Inc. He also served as the development head for Tango's lead program which entered the clinic in 1H 2022. Matt was a co-founder of Neon Therapeutics leading Translational Medicine and Early Development through completion of their first clinical study and initial public offering. He is a graduate of Swarthmore College and the MD/PhD program at Stanford University, where he pioneered novel cancer immunotherapies in the lab of Ron Levy, MD. He completed his clinical training in Internal Medicine at Harvard Medical School, Brigham & Women's Hospital. He lives in Boston with his wife, Myra, their second daughter Kaia and son Ezra. His oldest daughter Havi died on January 20th, 2021 of Tay-Sachs disease. A quick update that during the episode Matthew mentioned there are 4,000 genetic counselors in the USA, this number has now surpassed 5,000. During the episode, Matthew recommends the book Bearing the Unbearable: Love, Loss, and the Heartbreaking Path of Grief by Dr. Joanne Cacciatore. Check out his wife, Myra's organization, Emotion, which is for grieving individuals to find community and cope with loss. In our next episode we will chat with Myra about Emotion and her upcoming book, Fifty-Seven Fridays, which consists of memoirs from Matt and Myra, Havi's diagnosis, and how they celebrated her life. 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.
Blyth Taylor Lord founded Courageous Parents Network in 2014 — some years after her daughter, Cameron, and her nephew, Hayden, both died from infantile Tay-Sachs. Blyth turned her grief into purpose. CPN — a GPF alum grantee — uses education, advocacy and community to equip and empower parents of children with serious medical conditions. She … Continue reading Turning Grief into Purpose →
Chaque individu possède deux copies de la plupart des gênes, l'une héritée de sa mère biologique, l'autre de son père biologique. En cas de consanguinité, c'est-à-dire de reproduction entre deux personnes qui partagent au moins un ancêtre commun, les patrimoines génétiques transmis sont plus proches qu'entre deux personnes non apparentées. C'est ce point qui peut induire un risque majoré de développer certaines maladies génétiques. Les conséquences de la consanguinité sur le génotype Le génotype est l'ensemble du matériel génétique d'un individu, caractérisé par l'ADN reçu de chacun des parents. Deux personnes qui ont un ancêtre commun ont reçu des gènes identiques, qu'ils vont transmettre à l'enfant issu de leur union. Le problème, c'est que le manque de diversité génétique favorise la transmission de certains gènes pathologiques dits récessifs. Les gènes récessifs ne s'expriment que si les deux chromosomes portent l'information génétique correspondante. Deux parents qui n'ont aucun lien de sang auront peu de risque de transmettre tous les deux ce gène récessif. En revanche, les parents consanguins ont un ADN beaucoup plus proche l'un de l'autre. Le risque que deux gènes pathologiques soient transmis ensemble augmente alors considérablement, et favorise l'expression de la maladie correspondante. La baisse de diversité génétique et ses conséquences Pour la survie de l'espèce humaine, le brassage génétique, c'est-à-dire le mélange entre des ADN différents, est très important. Il permet une meilleure adaptation à l'environnement et aux maladies, en favorisant la transmission des gènes les plus performants. Si la diversité génétique est réduite par la consanguinité, la population générale peut devenir plus vulnérable. Le système immunitaire souffre lui aussi du manque de diversité. Une personne qui hérite des mêmes caractéristiques immunitaires de ses deux parents sera protégée contre un éventail moins large d'infections, de virus ou d'agents pathogènes. Maladies classiquement associées à la consanguinité Parmi les atteintes dues à des causes génétiques et accrues par la consanguinité, l'on trouve différentes pathologies. La maladie de Tay-Sachs, par exemple, peut rendre aveugle le jeune enfant et s'accompagne de déficience intellectuelle. Le sang est souvent atteint par les maladies consanguines, que ce soit l'anémie falciforme qui déforme les globules rouges ou la thalassémie, responsable d'une anémie chronique. L'on peut aussi citer comme maladie typique de la consanguinité la fibrose kystique, une atteinte des poumons et du système digestif qui ne se développe qu'en présence de deux gènes anormaux. De façon générale, la consanguinité s'accompagne parfois de troubles du développement de type trouble du spectre autistique, de déficiences intellectuelles dues à des anomalies du génome, ainsi que de malformations congénitales pouvant occasionner des troubles cardiaques, osseux ou nerveux. Learn more about your ad choices. Visit megaphone.fm/adchoices
Chaque individu possède deux copies de la plupart des gênes, l'une héritée de sa mère biologique, l'autre de son père biologique. En cas de consanguinité, c'est-à-dire de reproduction entre deux personnes qui partagent au moins un ancêtre commun, les patrimoines génétiques transmis sont plus proches qu'entre deux personnes non apparentées. C'est ce point qui peut induire un risque majoré de développer certaines maladies génétiques. Les conséquences de la consanguinité sur le génotypeLe génotype est l'ensemble du matériel génétique d'un individu, caractérisé par l'ADN reçu de chacun des parents. Deux personnes qui ont un ancêtre commun ont reçu des gènes identiques, qu'ils vont transmettre à l'enfant issu de leur union. Le problème, c'est que le manque de diversité génétique favorise la transmission de certains gènes pathologiques dits récessifs.Les gènes récessifs ne s'expriment que si les deux chromosomes portent l'information génétique correspondante. Deux parents qui n'ont aucun lien de sang auront peu de risque de transmettre tous les deux ce gène récessif. En revanche, les parents consanguins ont un ADN beaucoup plus proche l'un de l'autre. Le risque que deux gènes pathologiques soient transmis ensemble augmente alors considérablement, et favorise l'expression de la maladie correspondante.La baisse de diversité génétique et ses conséquencesPour la survie de l'espèce humaine, le brassage génétique, c'est-à-dire le mélange entre des ADN différents, est très important. Il permet une meilleure adaptation à l'environnement et aux maladies, en favorisant la transmission des gènes les plus performants. Si la diversité génétique est réduite par la consanguinité, la population générale peut devenir plus vulnérable.Le système immunitaire souffre lui aussi du manque de diversité. Une personne qui hérite des mêmes caractéristiques immunitaires de ses deux parents sera protégée contre un éventail moins large d'infections, de virus ou d'agents pathogènes.Maladies classiquement associées à la consanguinitéParmi les atteintes dues à des causes génétiques et accrues par la consanguinité, l'on trouve différentes pathologies. La maladie de Tay-Sachs, par exemple, peut rendre aveugle le jeune enfant et s'accompagne de déficience intellectuelle. Le sang est souvent atteint par les maladies consanguines, que ce soit l'anémie falciforme qui déforme les globules rouges ou la thalassémie, responsable d'une anémie chronique. L'on peut aussi citer comme maladie typique de la consanguinité la fibrose kystique, une atteinte des poumons et du système digestif qui ne se développe qu'en présence de deux gènes anormaux.De façon générale, la consanguinité s'accompagne parfois de troubles du développement de type trouble du spectre autistique, de déficiences intellectuelles dues à des anomalies du génome, ainsi que de malformations congénitales pouvant occasionner des troubles cardiaques, osseux ou nerveux. Hébergé par Acast. Visitez acast.com/privacy pour plus d'informations.
David Liu is an gifted molecular biologist and chemist who has pioneered major refinements in how we are and will be doing genome editing in the future, validating the methods in multiple experimental models, and establishing multiple companies to accelerate their progress.The interview that follows here highlights why those refinements beyond the CRISPR Cas9 nuclease (used for sickle cell disease) are vital, how we can achieve better delivery of editing packages into cells, ethical dilemmas, and a future of somatic (body) cell genome editing that is in some ways is up to our imagination, because of its breadth, over the many years ahead. Recorded 29 November 2023 (knowing the FDA approval for sickle cell disease was imminent)Annotated with figures, external links to promote understanding, highlights in bold or italics, along with audio links (underlined)Eric Topol (00:11):Hello, this is Eric Topol with Ground Truths and I'm so thrilled to have David Liu with me today from the Broad Institute, Harvard, and an HHMI Investigator. David was here visiting at Scripps Research in the spring, gave an incredible talk which I'll put a link to. We're not going to try to go over all that stuff today, but what a time to be able to get to talk with you about what's happening, David. So welcome.David Liu (00:36):Thank you, and I'm honored to be here.Eric Topol (00:39):Well, the recent UK approval (November 16, 2023) of the first genome editing after all the years that you put into this, along with many other colleagues around the world, is pretty extraordinary. Maybe you can just give us a sense of that threshold that's crossed with the sickle cell and beta thalassemia also imminently [FDA approval granted for sickle-cell on 8 December 2023] likely to be getting that same approval here in the U.S.David Liu (01:05):Right? I mean, it is a huge moment for the field, for science, for medicine. And just to be clear and to give credit where credit is due, I had nothing to do with the discovery or development of CRISPR Cas9 as a therapeutic, which is what this initial gene editing CRISPR drug is. But of course, the field has built on the work of many scientists with respect to CRISPR Cas9, including Emmanuel Charpentier and Jennifer Doudna and George Church and Feng Zhang and many, many others. But it is, I think surprisingly rapid milestone in a long decade's old effort to begin to take some control over our genetic features by changing DNA sequences of our choosing into sequences that we believe will offer some therapeutic benefit. So this initial drug is the CRISPR Therapeutics /Vertex drug. Now we can say it's actually a drug approved drug, which is a Crispr Cas9 nuclease programmed to cut a DNA sequence that is involved in silencing fetal hemoglobin genes. And as you know, when you cut DNA, you primarily disrupt the sequence that you cut. And so if you disrupt the DNA sequence that is required for silencing your backup fetal hemoglobin genes, then they can reawaken and serve as a way to compensate for adult hemoglobin genes like the defective sickle cell alleles that sickle cell anemia patients have. And so that's the scientific basis of this initial drug.Eric Topol (03:12):So as you aptly put— frame this—this is an outgrowth of about a decade's work and it was using a somewhat constrained, rudimentary form of editing. And your work has taken this field considerably further with base and prime editing whereby you're not just making a double strand cut, you're doing nicks, and maybe you can help us understand this next phase where you have more ways you can intervene in the genome than was possible through the original Cas9 nucleases.David Liu (03:53):Right? So gene editing is actually a several decades old field. It just didn't quite become as popular as it is now until the discovery of CRISPR nucleases, which are just much easier to reprogram than the previous programmable zinc finger or tail nucleases, for example. So the first class of gene editing agents are all nuclease enzymes, meaning enzymes that take a piece of DNA chromosome and literally cut it breaking the DNA double helix and cutting the chromosome into two pieces. So when the cell sees that double strand DNA break, it responds by trying to get the broken ends of the chromosome back together. And we think that most of the time, maybe 90% of the time that end joining is perfect, it just regenerates the starting sequence. But if it regenerates the starting sequence perfectly and the nuclease is still around, then it can just cut the rejoin sequence again.(04:56):So this cycle of cutting and rejoining and cutting and rejoining continues over and over until the rejoining makes the mistake that changes the DNA sequence at the cut site because when those mistakes accumulate to a point that the nuclease no longer recognizes the altered sequence, then it's a dead end product. That's how you end up with these disrupted genes that result from cutting a target DNA sequence with a nuclease like Crispr Cas9. So Crispr Cas9 and other nucleases are very useful for disrupting genes, but one of their biggest downsides is in the cells that are most relevant to medicine, to human therapy like the cells that are in your body right now, you can't really control the sequence of DNA that comes out of this process when you cut a DNA double helix inside of a human cell and allow this cutting and rejoining process to take place over and over again until you get these mistakes.(06:03):Those mistakes are generally mixtures of insertions and deletions that we can't control. They are usually disruptive to a gene. So that can be very useful when you're trying to disrupt the function of a gene like the genes that are involved in silencing fetal hemoglobin. But if you want to precisely fix a mutation that causes a genetic disease and convert it, for example, back into a healthy DNA sequence, that's very hard to do in a patient using DNA cutting scissors because the scissors themselves of course don't include any information that allows you to control what sequence comes out of that repair process. You can add a DNA template to this cutting process in a process called HDR or Homology Directed Repair (figure below from the Wang and Doudna 10-year Science review), and sometimes that template will end up replacing the DNA sequence around the cut site. But unfortunately, we now know that that HDR process is very inefficient in most of the types of cells that are relevant for human therapy.(07:12):And that explains why if you look at the 50 plus nuclease gene editing clinical trials that are underway or have taken place, all but one use nucleases for gene disruption rather than for gene correction. And so that's really what inspired us to develop base editing in 2016 and then prime editing in 2019. These are methods that allow you to change a DNA sequence of your choosing into a different sequence of your choosing, where you get to specify the sequence that comes out of the editing process. And that means you can, for the first time in a general way, programmable change a DNA sequence, a mutation that causes a genetic disease, for example, into a healthy sequence back into the normal, the so-called wild type sequence, for example. So base editors work by actually performing chemistry on an individual DNA base, rearranging the atoms of that base to become a different base.(08:22):So base editors can efficiently and robustly change A's into G's G's, into A's T's into C's or C's into T's. Those four changes. And those four changes for interesting biochemical reasons turn out to be four of the most common ways that our DNA mutates to cause disease. So base editors can be used and have been used in animals and now in six clinical trials to treat a wide variety of diseases, high cholesterol and sickle cell disease, and T-cell leukemia for example. And then in prime editors we developed a few years later to try to address the types of changes in our genomes that caused genetic disease that can't be fixed with a base editor, for example. You can't use a base editor to efficiently and selectively change an A into a T. You can't use a base editor to perform an insertion of missing DNA letters like the three missing letters, CTT, that's the most common cause of cystic fibrosis accounting for maybe 70% of cystic fibrosis patients.(09:42):You can't use a base editor to insert missing DNA letters like the missing TATC. That is the most common cause of Tay-Sachs disease. So we develop prime editors as a third gene editing technology to complement nucleases and base editors. And prime editors work by yet another mechanism. They don't, again, they don't cut the DNA double helix, at least they don't cause that as the required mechanism of editing. They don't perform chemistry on an individual base. Instead, prime editors take a target DNA sequence and then write a new DNA sequence onto the end of one of the DNA strands and then sort of help the cell navigate the DNA repair processes to have that newly written DNA sequence replace the original DNA sequence. And in the process it's sort of true search and replace gene editing. So you can basically take any DNA sequence of up to now hundreds of base pairs and replace it with any other sequence of your choosing of up to hundreds of base pairs. And if you integrate prime editing with other enzymes like recombinase, you can actually perform whole gene integration of five or 10,000 base pairs, for example, this way. So prime editing's hallmark is really its versatility. And even though it's the newest of the three ways that have been robustly used to edit mammalian cells and rescue animal models of genetic disease, it is arguably the most versatile by far,Eric Topol (11:24):Right? Well, in fact, if you just go back to the sickle cell story as you laid out the Cas9 nuclease, that's now going into commercial approval in the UK and the US, it's more of a blunt instrument of disruption. It's indirect. It's not getting to the actual genomic defect, whereas you can do that now with these more refined tools, these new, and I think that's a very important step forward. And that is one part of some major contributions you've made. Of course, there are many. One of the things, of course, that's been a challenge in the field is delivery whereby we'd like to get this editing done in many parts of the body. And of course it's easy, perhaps I put that in quotes, easy when you're taking blood out and you're going to edit those cells and them put it back in. But when you want to edit the liver or the heart or the brain, it gets more challenging. Now, you did touch on one recent report, and this is of course the people with severe familial hypercholesterolemia. The carriers that have LDL cholesterol several hundred and often don't respond to even everything we have on the shelf today. And there were 10 people with this condition that was reported just a few weeks ago. So that's a big step forward.David Liu (13:09):That was also a very exciting milestone. So that clinical trial was led by scientists at Verve Therapeutics and Beam Therapeutics, and it was the first clinical readout of an in vivo base editing clinical trial. There was previously at the end of 2022, the first clinical readout of an ex vivo base editing clinical trial using CAR T cells, ex vivo base edited to treat T-cell leukemia in pediatric patients in the UK. Ffigure from that NEJM paper below). But as you point out, there are only a small fraction of the full range of diseases that we'd like to treat with gene editing and the types of cells we'd like to edit that can be edited outside of the body and then transplanted back into the body. So-called ex vivo editing. Basically, you can do this with cells of some kind of blood lineage, hematopoietic stem cells, T-cells, and really not much else in terms of editing outside the body and then putting back into the body as you point out.(14:17):No one's going to do that with the brain or the heart anytime soon. So what was very exciting about the Verve Beam clinical trial is that Verve sought to disrupt the function of PCSK9 storied, gene validated by human genetics, because there are humans that naturally have mutations in PCSK9, and they tend to have much lower incidences of heart disease because their LDL, so-called bad cholesterol, is much lower than it would otherwise be without those mutations. So Verve set out to simply disrupt PCSK9 through gene editing. They didn't care whether they used a nuclease or a base editor. So they compared side-by-side the results of disrupting PCSK9 with Cas9 nuclease versus disrupting it by installing a precise single letter base edit using an adenine base editor. And they actually concluded that the base editor gave them higher efficacy and fewer unwanted consequences.(15:28):And so they went with the base editor. So the clinical trial that just read out were patients treated in New Zealand, in which they were given a lipid nanoparticle mRNA complex of an adenine base editor programmed with a guide RNA to install a specific A to G mutation in a splice site in PCSK9 that inactivates the gene so that it can no longer make functional PCSK9 protein. And the exciting result that read out was that in patients that receive this base editor, a single intravenous injection of the base editor lipid nanoparticle complex, as you know, lipid nanoparticles very efficiently go to the liver. In most cases, PCSK9 was edited in the liver and the result was substantial reduction in LDL cholesterol levels in these patients. And the hope and the anticipation is that that one-time treatment should be durable, should be more or less permanent in these patients. And I think while the patients who are at highest risk of coronary artery disease because of their genetics that give them absurdly high LDL cholesterol levels, that makes the most sense to go after those patients first because they are at extremely high risk of heart attacks and strokes. If the treatment proves to be efficacious and safe, then I think it's tempting to speculate that a larger and larger population of people who would benefit from having lower LDL cholesterol levels, which is probably most people, that they would also be candidates for this kind of therapy.Eric Topol (17:22):Yeah, no, it's actually pretty striking how that could be achieved. And I know in the primates that were done prior to the people in New Zealand, there was a very durable effect that went on well over I think a year or even two years. So yeah, that's right. Really promising. So now that gets us to a couple of things. One of them is the potential for off-target effects. As you've gotten more and more with these tools to be so precise, is the concern that you could have off-target effects just completely, of course inadvertent, but potential for other downstream in time known unknowns, if you will. What are your thoughts about that?David Liu (18:15):Yeah, I have many thoughts on this issue. It's very important the FDA and regulatory bodies are right to be very conservative about off-target editing because we anticipate those off targets will be permanent, those off-target edits will be permanent. And so we definitely have a responsibility to minimize adding to the mutational burden that all humans have as a function of existing on this planet, eating what we eat, being bombarded by cosmic rays and sunlight and everything else. But I think it's also important to put off-target editing into some context. One context is I think virtually every substance we've ever put into a person, including just about every medicine we've ever put into a person, has off-target effects, meaning modulates the function of biological molecules other than the intended target. Of course, the stakes are higher when those are gene editing agents because those modifications can be permanent.(19:18):I think most off-target edits are very likely to have no consequence because most of our genome, if you mutate in the kinds of small ways like making an individual base pair change for a base editor are likely to have no consequence. We sort of already know this because we can measure the mutational burden that we all face as a function of living and it's measurable, it's low, but measurable. I've read some papers that estimate that of the roughly 27 trillion [should be ~37] cells in an adult person, that there are billions and possibly hundreds of billions of mutations that accumulate every day in those 27 [37] trillion cells. So our genomes are not quite the static vaults that we'd like to think that they are. And of course, we have already purposefully given life extending medicines to patients that work primarily by randomly mutating their genomes. These are chemotherapeutic agents that we give to cancer patients.(20:24):So I think that history of giving chemotherapeutic agents, even though we know those agents will mess up the genomes of these patients and potentially cause cancer far later down the road, demonstrates that there are risk benefit situations where the calculus favors treatment, even if you know you are causing mutations in the genome, if the condition that the patient faces and their prognosis is sufficiently grave. All that said, as I mentioned, we don't want to add to the mutational burden of these patients in any clinically relevant way. So I think it is appropriate that the early gene editing clinical candidates that are in trials or approved now are undergoing lots and lots of scrutiny. Of course, doing an off-target analysis in an animal is of limited value because the animal's genome is quite different than the human genome. So the off targets won't align, but doing off-target analysis in human cells and then following up these patients for a long time to confirm hopefully that there isn't clinical evidence of quality of life or lifespan deterioration caused by off-target editing, that's all very, very important.(21:55):I also think that people may not fully appreciate that on target editing consequences also need to be examined and arguably examined with even more urgency than off-target edits. Because when you are cutting a chromosome at a target site with a nucleus, for example, you generate a complex mixture of different products of different DNA sequences that come out, and the more sequences you sequence, the more different products you realize are generated. And I don't think it's become routine to try to force the companies, the clinical groups that are running these trials to characterize the top 1000 on target products for their biological consequence. That would be sort of impractical to do and would probably slow down greatly the benefit of these early nuclease clinical trials for patients. But those are actually the products that are generated with much higher frequency typically than the off-target edits. And that's part of why I think it makes more sense from a clinical safety perspective to use more precise gene editing methods like base editing and prime editing where we know the products that are generated are mostly the products that we want are not uncontrolled mixtures of different deletion and insertion products.(23:27):So I think paying special attention to the on-target products, which are generated typically 70 to 100% of the time as opposed to the off targets which may be generated at a 0.1 to 1% level and usually not that many at that level once it reaches a clinical candidate. I think that's all important to do.Eric Topol (23:51):You've made a lot of great points there and thanks for putting that in perspective. Well, let's go on to the delivery issue. You mentioned nanoparticles, viral vectors, and then you've come up with small virus-like neutered viruses if you will. I think a company Nvelop that you've created to push on that potential. What are your thoughts about where we stand since you've become a force for coming up with much better editing, how about much better and more diverse delivery throughout the body? What are your thoughts about that?David Liu (24:37):Yeah, great. Great question. I think one of the legacies of gene editing is and will be that it inspired many more scientists to work hard on macromolecular delivery technologies. All of these gene editing agents are macromolecules, meaning they're proteins and or nucleic acids. None of them are small molecules that you can just pop a pill and swallow. So they all require special technologies to transfer the gene editing agent from outside of the cell into the cell. And the fact that taking control of our genetic features has become such a popular aspiration of medicine means that there's a lot of scientists as measured, most importantly by the young scientists, by the graduate students and the postdocs and the young professors of which I'm no longer one sadly, who have decided that they're going to devote a big part of their program to delivery. So you summarized many of the clinically relevant, clinically validated delivery technologies already, somewhat sadly, because if there were a hundred of these technologies, you probably wouldn't need to ask this question. But we have lipid nanoparticles that are particularly good at delivering messenger RNA, that was used to deliver the covid vaccine into billions of people. Now also used to deliver, for example, the adenine base editor mRNA into the livers of those hypercholesterolemia patients in the Verve/Beam clinical trial.(26:20):So those lipid nanoparticles are very well matched for gene editing delivery as long as it's liver. And they also are particularly well matched because their effect is transient. They cause a burst of gene editing agents to be produced in the liver and then they go away. The gene editing agents can't persist, they can't integrate into the genome despite what some conspiracy theorists might worry about. Not that you've had any encounter with any of those people. I'm sure that's actually what you want for a gene editing agent. You ideally want a delivery method that exposes the cell only for the shortest amount of time needed to make the on-target edit at the desired level. And then you want the gene editing agent to disappear and never come back because it shouldn't need to. DNA edits to our genome for durable cells should be permanent. So that's one method.(27:25):And then there are a variety of other methods that researchers have used to deliver to other cells, but they each carry some trade-offs. So if you're trying to edit hematopoietic stem cells, you can take them out of the body. Once they're out of the body, you have many more methods you can use to deliver efficiently into them. You can electroporated messenger, RNA or even ribonuclear proteins. You can treat with lipids or viruses, you can edit and then put them back into the body. But as you already mentioned, that's sort of a unique feature of blood cells that isn't applicable to the heart or the brain, for example, or the eyes. So then that brings us to viral vectors. There are a variety of clinically validated viral methods for delivery. AAV— adeno associated virus— is probably the most diverse, most relevant, and one of the best tolerated viral delivery methods. The beauty of AAV is that it can deliver to a variety of tissues. AAV can deliver into spinal cord neurons, for example, into retinal cells, into the heart, into the liver, into a few other tissues as well.(28:48):And that diversity of being able to choose AAV capsids that are known to get into the types of tissues that you're trying to target is a great strength of that approach. One of the downsides of AAV for gene editing agents is that their delivery tends to be fairly durable. You can engineer AAVs into next generation capsids that sort of get rid of themselves or the gene editing agents get rid of themselves. But classic AAV tends to stay around in patients for a long time, at least months, for example, and possibly years. And we also don't yet have a good way, clinically validated way of re-dosing AAV. And once you administer high doses of AAV in a patient that tends to provoke high-titer, neutralizing antibodies against those AAVs making it difficult to then come back six months or a year later and dose again with an AAV.(29:57):So researchers are on the bright side, have become very good at engineering and evolving in the laboratory next generation AAVs that can go to greater diversity issues that can be more potent. Potency is important because if you can back off the dose, maybe you can get around some of these immunogenicity issues. And I think we will see a renaissance with AAV that will further broaden its clinical scope. Even though I appreciate that the decisions by a couple large pharma companies to sort of pull out of using AAV for gene therapy seemed to cause people to, I think prematurely conclude that AAV has fallen out of favor. I think for gene therapy, it's quite different than gene editing. Gene therapy, meaning you are delivering a healthy copy of the gene, and you need to keep that healthy copy of the gene in the patient for the rest of the patient's life.(30:59):That's quite different than gene editing where you just need the edit to take place over days to weeks, and then you want the editing agent to actually go away and you never want to come back. I think AAV will used to deliver gene editing agents will avoid some of the clinical challenges like how do we redose? Because you shouldn't need to redose if the gene editing clinical trial proceeds as you hope. And then you mentioned these virus-like particles. So we became interested in virus-like particles as other labs have because they offer some of the best strengths of non-viral and viral approaches like non-viral approaches such as LMPs. They deliver the transient form of a gene editing agent. In fact, they can deliver the fully assembled protein RNA complex of a base editor or a prime editor or a CRISPR nuclease. So in its final form, and that means the exposure of the cell to the editing agent is minimized.(32:15):You can treat with these virus-like particles, deliver the protein form of these gene editing agents, allow the on-target site to get edited. And then since the half-life of these proteins tends to be very small, roughly 24 hours for example, by a week later, there should be very little of the material left in the animal or prospectively in the patient virus-like particles, as you call them, neutered viruses, they lack viral DNA or RNA. They don't have the ability to integrate a virus's genome into the human genome, which can cause some undesired consequences. They don't randomly introduce DNA into our genomes, therefore, and they disappear more transiently than viruses like AAV or adenoviruses or other kinds of lentiviruses that have been used in the clinic. So these virus-like particles or VLP offer really some of the best strengths on paper at least of both viral and non-viral delivery.(33:30):Their limitation thus far has been that there really haven't been examples of potent in vivo delivery of cargoes like gene editing agents using virus-like particles. And so we recently set out to figure out why, and we identified several bottlenecks, molecular bottlenecks that seemed to be standing in the way of virus-like particles, doing a much more efficient job at delivering inside of an animal. (Figure from that paper below.) And we engineered solutions to each of these first three molecular bottlenecks, and we've identified a couple more since. And that resulted in what we call VLPs engineered virus-like particles. And as you pointed out, Keith Joung and myself, co-founded a company called Nvelop to try to bring these technologies and other kinds of molecular delivery technologies, next generation delivery technologies to patients.Eric Topol (34:28):Well, that gets me to the near wrapping up, and that is the almost imagination you could use about where all this can go in the future. Recently, I spoke to a mutual friend Fyodor Urnov, who talked about wouldn't it be amazing if for people with chronic pain you could just genome edit neurons their spinal cord? As you already touched on recently, Jennifer Doudna, who we both know talked about editing to prevent Alzheimer's disease. Well, that may be a little far off in time, but at least people are talking about these things that is not, we're not talking about germline editing, we're just talking about somatic cell and being able to approach conditions that have previously been either unapproachable or of limited success and potential of curing. So this field continues to evolve and you and all your colleagues are a big part of how this has evolved as quickly as it has. What are your thoughts about, are there any bounds to the potential in the longer term for genome editing? Right.David Liu (35:42):It's a great question because all of the early uses of gene editing in people are appropriately focused on people who are at dire risk of having shorter lives or very poor quality of life as it should be for a new kind of therapeutic because the risks are high until we continue to validate the clinical benefit of these gene editing treatments. And therefore we want to choose patients the highest that face the poorest prognosis where the risk benefit ratio favors treatment as strongly as possible. But your question, I think very accurately highlights that our genome and changes to it determine far more than whether you have a serious genetic disorder like Sickle Cell Disease or Progeria or Cystic Fibrosis or Familial Hypercholesterolemia or Tay-Sachs disease. And being able to not just correct mutations that are associated with devastating genetic disorders, but perhaps take control of our genomes in more sophisticated way that you pointed out two examples that I think are very thought provoking to treat chronic pain permanently to lower the risk of horrible diseases that affect so many families devastating to economies worldwide as well, like Alzheimer's disease, Parkinson's disease, the genetic risk factors that are the strongest genetic determinants of diseases like Alzheimer's disease are actually, there are several that are known already.(37:36):And an interesting possibility for the future, it isn't going to happen in the next few years, but it might happen within the next 10 or 20 years, might be to use gene editing to precisely change some of those most grievous alleles that are risk factors for Alzheimer's disease like a apoE4, to change them to the genetic forms that have normal or even reduced risk for Alzheimer's disease. That's a very tough clinical trial to run, but I'd say not any tougher than the dozens of most predominantly failed Alzheimer's clinical trials that have probably collectively accounted for hundreds of billions of dollars of investmentEric Topol (38:28):Easily.David Liu (38:31):And all of that speaks to the fact that Alzheimer's disease, for example, is enormous burden on society by every measure. So it's worth investing and major resources and taking major risks to try to create perhaps preventative treatments that just lower our risk globally. Getting there will require that these pioneering early clinical trials for gene editing are smashing successes. I'm optimistic that they will be, there will be bumps in the road because there always are bumps in the road. There will be patients who have downturns in their health and everyone will wonder whether those patients had a downturn because of a gene editing treatment they received. And ascertaining whether that's the case will be very important. But as these trials continue to progress, and as they continue hopefully on this quite positive trajectory to date, it's tempting to imagine a future where we can use precise gene editing methods. For example, you can install a variety using prime editing, a variety of alleles that naturally occur in people that reduce the risk of Alzheimer's disease or Parkinson's disease like the mutation that 0.1% of Icelandic people and almost nobody else has in amyloid precursor protein changing alanine 673 to threonine (A673T).(40:09):It is very thought provoking, and I don't think society is ready now to take that step, but I think if things continue to proceed on this promising trajectory, it's inevitable because arguably, the defining trait of our species is that we use every ounce of our talents and our gifts and our resources and our creativity to try to improve our lives and those of our children. And I don't think if we have ways of treating genetic diseases or even of reducing grievous genetic disease risk, that we will be able to sit on our hands and not take steps towards that kind of future solon as those technologies continue to be validated in the clinic as being safe and efficacious. It's, I teach a gene editing class and I walk them through a slippery slope at the end of five ethics cases, starting with progeria, where most people would say having a single C of T mutation in one gene that you, by definition didn't inherit from mom or dad.(41:17):It just happened spontaneously. That gives you an average lifespan of 14 and a half years and strongly affects other aspects of the quality of your life and your family's life that if you can change as we did in animals that T back into a C and correct the disease and rescue many of the phenotypes and extend lifespan, that that's an ethical use of gene editing. Treating genetic deafness is the second case. It's a little bit more complicated because many people in the deaf community don't view deafness as a disability. It's at least a more subjective situation than progeria. But then there are other cases like changing apoE4 to apoE3 or even apoE2 with the lower than normal risk of Alzheimer's disease, or installing that Icelandic mutation and amyloid precursor protein that substantially lowers risk of Alzheimer's disease. And then finally, you can, I always provoke a healthy debate in the class at the end by pointing out that in the 1960s, one of the long distance cross country alpine skiing records was set by a man who had a naturally occurring mutation in his EPO receptor, his erythropoietin receptor, so that his body always thought he was on EPO as if he were dosing on EPO, although that was of course before the era of EPO dosing was really possible, but it was just a naturally occurring mutation in this case, in his family.(42:48):And when I first started teaching this class, most students could accept using gene editing to treat progeria, but very few were willing to go even past that, even to genetic deafness, certainly not to changing a ApoE risk factors for Alzheimer's. Nowadays, I'd say the 50% vote point is somewhere between case three and case four, most people are actually say, yeah, especially since they have family members who've been through Alzheimer's disease. If they are a apoE4, some of them are a apoE4/apoE4 [homozygotes], why not change that to a apoE3 or even an ApoE2 or as one student challenged the class this year, if you were born with a apoE2, would you want to change it to a ApoE3 so you could be more normal? Most people would say, no, there's no way I would do that.(43:49):And for the first time this year, there were one or two students who actually even defended the idea of putting in a mutation in erythropoietin receptor to increased increase their endurance under low oxygen conditions. Of course, it's also presumably useful if you ever, God forbid, are treated with a cancer chemotherapeutic. Normally you get erythropoietin to try to restore some, treat some of the anemia that can result, and this student was making a case, well, why wouldn't we? If this is a naturally occurring mutation that's been shown to benefit certain people doing certain things. I don't think that's a general societal view. And I am a little bit skeptical we'll ever get widespread acceptance of case number five. But I think all of it is healthy stimulates a healthy discussion around the surprisingly gentle continuum between disease treatment, disease prevention, and what some would call human improvement.And it used to be that even the word human improvement was sort of an anathema. I think now at least the students in my class are starting to rethink what does that really mean? We improving ourselves a number of ways genetically and otherwise by virtue of our lifestyles, by virtue of who we choose to procreate with. So it's a really interesting debate, and I think the rapid development and now clinical progression and now approval, regulatory approval of gene editing drugs will play a central role in this discussion.Eric Topol (45:38):No question. I mean, also just to touch on the switch from a apoE4 to apoE2, you would get a potential 2-fer of lesser risk for Alzheimer's and a longer lifespan. So I mean, there's a lot of things here. The thing that got me years ago, I mean, this is many years ago at a meeting with George Church and he says, we're going to just edit 60 genes and then we can do all sorts of xeno-pig transplants and forget the problem of donors. And it's happening now.David Liu (46:11):Yeah, I mean, he used a base editor to edit hundreds of genes at once, if not thousands ofEric Topol (46:16):That's why it's just, yeah, no, it's just extraordinary. And I think people need to be aware that opportunities here, as you say, with potential bumps along the way, unquestionably, is almost limitless. So this has been a masterclass thanks to you, David, in where we are, where we're headed in genome editing at a very extraordinary time where we've really seeing things click. And I just want to also add that you're going to be here with a conference in La Jolla in January, I think, on base and prime editing. Is that right? So for those who are listeners who are into this topic, maybe they can also hear the latest, I'm sure there'll be more between now and next. Well, several weeks from now at your, it's aDavid Liu (47:12):Conference on, it's the fifth international conference on base and prime editing and associated enzymes, the somewhat baroque name. And I will at least be giving a virtual talk there. It actually overlaps with the talk I'm giving at Rockefeller that time. Ah, okay, cool. But I'm speaking at the conference either in person or virtually.Eric Topol (47:34):Yeah. Well, anytime we get to hear from you and the field, of course it's enlightening. So thanks so much for joining. Thank youDavid Liu (47:42):For having me. And thank you also for all of your, I think, really important public service in connecting appropriately the ground truths about science and vaccines and other things to people. I think that's very much appreciated by scientists like myself.Eric Topol (48:00):Oh, thanks David.Thanks for listening, reading, and subscribing to Ground Truths. To be clear, this is a hybrid format, roughly alternating between analytical newsletters/essays and podcasts with exceptional people, attempting to achieve about 2 posts per week. It's all related to cutting-edge advances in life science, medicine, and information tech (A.I.)All content is free. If you wish to become a paid subscriber know that all proceeds go to Scripps Research. Get full access to Ground Truths at erictopol.substack.com/subscribe
It Happened To Me: A Rare Disease and Medical Challenges Podcast
Pancreatic cancer occurs when a cell in the pancreas is damaged, causing the malignant or cancer cell to form in the tissue of the pancreas. The pancreas is a gland about 6 inches long and is shaped like thin pear lying on its side. The pancreas lies between the stomach and the spine. The risk of developing pancreatic cancer increases with age, with about ⅔ of patients being diagnosed at age 65 or older. Slightly more men than women are affected. Cigarette smoking is one of the biggest risk factors. Other risk factors include: Being overweight Personal history of diabetes and Family history of pancreatic cancer or pancreatitis Like most cancers, early detection is critical. Survival rates are impacted by tumor size and whether the cancer has spread to other organs. In this episode we are joined by Leslie Waldman, who has a personal diagnosis of pancreatic cancer, which she has lived with for 10 years. Leslie Waldman is director of Consumer and Physician Engagement at Johns Hopkins Medicine. During the last four decades, he has served Johns Hopkins in many capacities including director of strategic marketing, director of competitive strategy for Johns Hopkins Medicine and as director of public affairs for the Johns Hopkins University School of Public Health. Throughout her career, she has blended strategy planning and marketing, public affairs and consumer health education to affect change and motivate consumers towards healthier living. Resulting programs have included community-based screening programs for Tay-Sachs disease and lead poisoning; the award-winning health portfolio, A Woman's Journey; and strategic marketing programs for women's health, many clinical programs and recruitment of volunteers for clinical trials The Association of American Medical Colleges has honored her work for the digital program, COVID -19: One Year Later; re branding Johns Hopkin Medicine, marketing the Johns Hopkins Breast Center, advertising during open enrollment, the publication of Estrogen Replacement Therapy: The Johns Hopkins Guide to Making an Informed Decision; and marketing for the Johns Hopkins Asthma and Allergy Center. Ms. Waldman has a masters in science in health education from the Johns Hopkins University Bloomberg School of Public Health and a BA from the Newhouse School of Communications and the College of Liberal Arts at Syracuse university. Check out “A Woman's Journey: Healthy Insights That Matter” on Apple Podcast here. There is also an archive here. We also encourage you to explore the resources offered by PanCan and Lust Garden. You can also reference the NCCN guidelines for pancreatic cancer 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.
Listen to the second part of Lindsay's incredible journey through Triple-Positive Breast Cancer, her lessons along the way, and what she hopes to impart on the world. #LindsaysLessons is something we can ALL learn from! A message from our sponsor: JScreen! JScreen's mission is preventing devastating genetic diseases by making genetic screening and counseling accessible and affordable. Based out of Emory University School of Medicine's Department of Human Genetics, this non-profit program provides online education, at-home testing and telehealth genetic counseling services across the U.S. JScreen's state-of-the-art CancerGEN test analyzes the BRCA genes and over 70 other cancer-susceptibility genes to determine your genetic risk for different types of cancer. This information can save your life! If testing shows that you have a mutation in a cancer gene, you can take action to prevent cancer. JScreen's ReproGEN test (for diseases like Tay-Sachs and cystic fibrosis) is also available to those who are planning to start or expand their families. Both tests are done from the comfort of your home on saliva, and telehealth genetic counseling is included. JScreen Discount Code: Mothern2023 for $25 off of your purchase!
In this two-part episode, Lindsay Leggett bravely shares her journey through breast cancer and the lessons she's learned along the way as a wife, daughter, mother, and friend. Lindsay is utterly one of the most amazing women we've had the pleasure of knowing and it is our honor to highlight her amazing strength and love. A message from our sponsor: JScreen! JScreen's mission is preventing devastating genetic diseases by making genetic screening and counseling accessible and affordable. Based out of Emory University School of Medicine's Department of Human Genetics, this non-profit program provides online education, at-home testing and telehealth genetic counseling services across the U.S. JScreen's state-of-the-art CancerGEN test analyzes the BRCA genes and over 70 other cancer-susceptibility genes to determine your genetic risk for different types of cancer. This information can save your life! If testing shows that you have a mutation in a cancer gene, you can take action to prevent cancer. JScreen's ReproGEN test (for diseases like Tay-Sachs and cystic fibrosis) is also available to those who are planning to start or expand their families. Both tests are done from the comfort of your home on saliva, and telehealth genetic counseling is included. JScreen Discount Code: Mothern2023 for $25 off of your purchase!
View the Show Notes Page for This Episode Become a Member to Receive Exclusive Content Sign Up to Receive Peter's Weekly Newsletter Wendy Chung is a board-certified clinical and molecular geneticist with more than 25 years of experience in human genetic disease research. In this episode, Wendy delves deep into the world of genetics by first exploring the historical landscape of genetics prior to decoding the human genome, contrasting it with what we know today thanks to whole genome and exome sequencing. She provides an overview of genetic testing by differentiating between various genetic tests such as direct-to-consumer, clinical, whole genome sequencing, and more. Additionally, Wendy unravels the genetic underpinnings of conditions such as PKU, breast cancer, obesity, autism, and cardiovascular disease. Finally, Wendy goes in depth on the current state and exciting potential of gene therapy while also contemplating the economic implications and ethical nature of gene editing. We discuss: Wendy's interest in genetics and work as a physician-scientist [2:45]; The genetics of phenylketonuria (PKU), a rare inherited disorder [5:15]; The evolution of genetic research: from DNA structure to whole genome sequencing [18:30]; Insights and surprises that came out of the Human Genome Project [28:30]; Overview of various types of genetic tests: direct-to-consumer, clinical, whole genome sequencing, and more [34:00]; Whole genome sequencing [39:30]; Germline mutations and the implications for older parents [45:15]; Whole exome sequencing and the importance of read depth [50:30]; Genetic testing for breast cancer [54:00]; What information does direct-to-consumer testing provide (from companies like 23andMe and Ancestry.com)? [1:01:30]; The GUARDIAN study and newborn genetic screening [1:06:30]; Treating genetic disease with gene therapy [1:18:00]; How gene therapy works, and the tragic story of Jesse Gelsinger [1:22:00]; Use cases for gene therapy, gene addition vs. gene editing, CRISPR, and more [1:28:00]; Two distinct gene editing strategies for addressing Tay-Sachs and fragile X syndrome [1:37:00]; Exploring obesity as a polygenic disease: heritability, epigenetics, and more [1:41:15]; The genetics of autism [1:48:45]; The genetics of cardiovascular disease [2:01:45]; The financial costs and economic considerations of gene therapy [2:06:15]; The ethics of gene editing [2:12:00]; The future of clinical genetics [2:21:00]; and More. Connect With Peter on Twitter, Instagram, Facebook and YouTube
Our guest this week is Dan Redfield of Anchorage, AK who is an Emmy nominated filmmaker and the father of three children.Dan and his wife, Kristen, have been married for two years and are proud parents of three children; Henry (8 mo.), Reagan (3) and Ava, who very sadly passed away in November 2021 at age six, after suffering from Infantile Tay-Sachs, a rare inherited genetic disease. We'll hear how Dan developed a passion for film making and how that led to the creation of the PBS documentary film 'Granted,' which led to creating short documentary films for other families touched by disabiltiy, in the name of Adventures for Ava, a non-profit dedicated to helping families with special needs capture memories. That's all on this episode of the Special Fathers Network Dad to Dad Podcast.Show Notes - Email – dan@danredfield.comWebsite – https://www.danredfield.com/Website – https://www.avasstory.orgLinkedIn – https://www.linkedin.com/in/danredfield/Cure Tay-Sachs Foundation - https://www.curetay-sachs.org/National Tay-Sachs & Allied Disease Foundation - https://ntsad.org/ Granted:A Wish Story (Ava's Make-A-Wish Journey) – min 52:10 https://www.youtube.com/watch?v=QTKo7Li2Gv0Special Fathers Network - SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 500+ SFN Mentor Fathers, who are raising kids with special needs, have said: "I wish there was something like this when we first received our child's diagnosis. I felt so isolated. There was no one within my family, at work, at church or within my friend group who understood or could relate to what I was going through."SFN Mentor Fathers share their experiences with younger dads closer to the beginning of their journey raising a child with the same or similar special needs. The SFN Mentor Fathers do NOT offer legal or medical advice, that is what lawyers and doctors do. They simply share their experiences and how they have made the most of challenging situations.Check out the 21CD YouTube Channel with dozens of videos on topics relevant to dads raising children with special needs - https://www.youtube.com/channe... Please support the SFN. Click here to donate: https://21stcenturydads.org/do...Find out about Horizon Therapeutics – Science and Compassion Working Together To Transform Lives. https://www.horizontherapeutics.com/Special Fathers Network: https://21stcenturydads.org/Discover more about the Dads Honor Ride 2023 - https://21stcenturydads.org/2023-dads-honor-ride/
How do we cope with the parts of our birth that didn't go the way we envisioned? In today's episode we chat with Cadyn about her birth experience. She and her husband planned a home birth, because (in her words) of “how special we consider our home and surrounding space to be, and that this was where it seemed that magical portal of birth was meant to open.” After a long labor, Cadyn transferred to the hospital. It was frustrating and heart-breaking. But after a period of time, she was able to get hydrated and rest. The staff gave time and space and honored her choices. She felt supported. Her husband was even able to assist in “catching” the baby. Cadyn describes the birthing as “the best moment I've ever experienced.” More from Cadyn: “My hospital experience was thankfully quite positive, and one student member of our midwife team remained with my husband/best-birth-partner-ever and me through the birth. I know now that nobody, especially myself, is to be blamed— only thanked— for the way our daughter came into this world. There are of course reasons to be nervous about giving birth, but nothing to FEAR. I went through many phases of accepting my personal birth story, and listening to birth story podcasts like yours has sincerely helped me to process everything. I hear stories that share common ground with my own, and I hear stories that remind me that EVERY birth is unique. I hope I can share something with a listener who might need to hear it.” This birth story includes mention of: RhoGAM shot, Tay-Sachs disease, hospital transfer, epidural, pitocin. Links From The Episode: Immortalmountain.com Offers From Our Awesome Partners: Needed: https://bit.ly/2DuMBxP - use code DIAH to get 20% off your order Splash Blanket: https://bit.ly/3JPe1g0 - use code DIAH for 10% off your order Esembly: https://bit.ly/3eanCSz - use code DIH20 to get 20% off your order More From Doing It At Home: Send us your birth story: https://bit.ly/3jOjCKl Doing It At Home book on Amazon: https://amzn.to/3vJcPmU DIAH Website: https://www.diahpodcast.com/ DIAH Instagram: https://www.instagram.com/doingitathome/ DIAH YouTube: https://bit.ly/3pzuzQC DIAH Merch: www.diahpodcast.com/merch Give Back to DIAH: https://bit.ly/3qgm4r9 Learn more about your ad choices. Visit megaphone.fm/adchoices
In this episode, we review the high-yield topic of Tay-Sachs Disease from the Pediatrics section. Follow Medbullets on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets
Trigger Warning: mentions of domestic abuse and infant lossIn this episode, I am joined by Social worker Rachel who became a young mum and experienced many hurdles through her fertility journey. Rachel talks about her son being diagnosed with Tay-Sachs disease and the journey they went on, the aftermath and starting trying to conceive. What we discussed:Her life and how if changed after her mum remarriedHer son's diagnosis and the process which her and her husband went throughThe issues raised after her son's death and the support she receivedHow her experiences led her to her career and what she does to support others who may be in a similar situation as herRachel talks about her remarriage and how another hurdle was thrown at herRachel and her new husband desire to start a family and the problems raised through thisThe process of trying to get pregnant and all the treatments that Rachel had to go through How we should focus more on Women's health from an early ageSocials:Follow @TheFertilityPodcast on InstagramFollow @YourFertilityNurse on InstagramFollow @DancinginBabydust on InstagramFollow @Fatpositivefertility on InstagramFind out more about Hannah Pearn at Acupuncture Fertility London - Hannah Pearn Acupuncture
The Boobie Docs: The Girlfriends' Guide to Breast Cancer, Breast Health, & Beyond
Kicking off 2023 by speaking to my cooler, older cousins, Melanie & Michelle, who I spent my entire life idolizing.
MK Czerwiec interviews Rick Louis and Lara Antal on their collaboration creating Ronan and the Endless Sea of Stars. Rick Louis allows the reader a look into his experiences having a child with Tay-Sachs disease. He worked with Lara Antal to make the graphic memoir a reality. Rick and Lara discuss how their partnership started and how they communicated to make the best possible story. RESSepisode
Tovah Silbermann (Girlfriend) shares the downsides of sharing a meal with Gianmarco, having night terrors, washing kitchenware in the ocean, testing for Tay-Sachs, and we debate what a man's responsibility is if he falls off a roof into a woman while fully erect. We also dive a little too deep into the Yeshiva Boys Choir and the Miami Boys Choir and why if Gianmarco and her go to one of their concerts he has to wear a yarmulke. You can watch full video of this episode HERE! Join the Patreon for ad-free episodes, exclusive content, and MORE. Listen to our live weekly show on AMP, every Tuesday at 4 PM ET. Follow Tovah Silbermann on Instagram and Twitter Follow Gianmarco Soresi on Twitter, Instagram, TikTok, Facebook, & YouTube Subscribe to Gianmarco Soresi's email & texting lists Check out Gianmarco Soresi's bi-monthly show in NYC Get tickets to see Gianmarco Soresi in a city near you Watch Gianmarco Soresi's special "Shelf Life" on Amazon Follow Russell Daniels on Twitter & Instagram See Russell in Titanique through February 2023! E-mail the show at TheDownsideWGS@gmail.com Produced by Paige Asachika & Gianmarco Soresi Video edited by Spencer Sileo Special Thanks Tovah Silbermann Part of the Authentic Podcast Network Original music by Douglas Goodhart Learn more about your ad choices. Visit podcastchoices.com/adchoices
Central Synagogue member Robin Lynn and her daughter Carla Steckman about how the fatal Tay-Sachs disease has affected their family.
When Emily Rapp Black's son Ronan was diagnosed with the rare and fatal condition Tay-Sachs disease, she turned to writing to make sense of her grief, what his short life would be, and what it meant to be his mother. Her memoir “The Still Point of the Turning World,” was written during Ronan's life. Eight year's later she wrote a companion memoir “Sanctuary” in which she explores learning to live after Ronan's death, coming to terms with her loss, and learning that loss in not something that is overcome but rather absorbed into our beings. We spoke to Black about her two memoirs, her experience as a mother of a child with a rare and fatal disease, how she came to understand the meaning of resilience.
In this episode we look into the concept of genetics in Torah law. When are we developing the world and using the resources God gave us and when are we playing God? Is it ethical to pick the gender of a child? What about their height/eye color? What if it impacts their health? Does that make it better? In addition to these general questions, we discuss the Rabbis approach to genetic diseases in the Jewish community (specifically Tay Sachs), the concept of determining Jewish/Kohein status based on genetic testing and many other thoughts connected to genetics as well. Happy listening! Rabbi Moshe As I move over the next few weeks, I will be posting episodes on fascinating topics in Jewish Bioethics from classes I gave to a group of Medical Doctors. Once I'm settled, I intend on restarting the shorter 10-15 minute style I've used until now. To sponsor a podcast or make a tax-deductible donation to support this podcast and DATA of Richardson go to: https://thethinkingjew.com/support-us/ Full Hebrew Source sheets here For questions comments or topic requests, email: thethinkingjewpodcast@gmail.com
KSQD 5-04-2022: (Archive show) Review of genetics research focusing on genetic diseases: sickle cell, Huntingtons, fragile X syndrome, cystic fibrosis, breast cancer, Tay-Sachs, tuberculosis, Creutzfeldt–Jakob disease and prions; More genetics topics such as repetitive DNA, transposons, jumping genes, oncogenes and retroviruses
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