GENEration Hope

GENEration Hope - Ron Kleiman
  • 0.0 (0)
  • LIFE SCIENCES
  • UPDATED MONTHLY

In-depth conversations with scientists, clinicians, advocates, and families at the front lines of rare disease, gene therapy, and genomic medicine. Hosted by rare disease parent and filmmaker Ron Kleiman, GENEration Hope explores the science, the ethics, and the human stories behind the fight to give children with genetic disorders a better future.

Episodes

  1. FEB 1

    Ep 5. Dr. Katy Phelan: The Origins of Phelan-McDermid Syndrome + Why Hope Is Growing

    Welcome to GENEration Hope — I’m Ron Kleiman.Today’s guest is Dr. Katy Phelan, a pioneering human geneticist and one of the founders of the Phelan-McDermid Syndrome Foundation (PMSF). This conversation was recorded at the PMSF Annual Conference (2024).Dr. Phelan takes us back to the earliest days of how Phelan-McDermid syndrome was first identified, how families found each other long before social media, and why community became a turning point for so many parents.We also break down diagnostics in plain language — including microarray, sequencing, and why chromosome analysis can still matter — and we talk about what’s giving families real hope as research and treatments move closer.If conversations like this are helpful, please subscribe and turn on notifications so you’re alerted each month when a new interview drops, along with updates from GENEration Hope.Stay Hopeful,Ron⸻Chapters (paste into YouTube)00:01:21 Who is Dr. Katy Phelan (geneticist + PMSF founder)00:01:44 “Girls aren’t built for math” — and proving that wrong00:03:17 Why human genetics (and the Celtics + PMS colors story)00:04:39 The first 22q13 deletion case and the start of collaboration00:06:04 Community and siblings00:07:41 How close are we to treatments? (optimism + perspective)00:09:26 Microarray explained (and what it can’t tell you)00:10:22 Why chromosome analysis still matters (ring chromosomes)00:12:10 Publishing → families calling → learning from parents00:13:05 “They wanted a name like Down syndrome”00:14:26 The first meeting (grant, logistics, and rapid growth)00:18:03 Early whole genome sequencing + diagnostic guidelines00:20:11 US insurance vs Canada timelines/access realities00:21:34 Gene therapy: what families worry about most00:24:38 Misdiagnoses and missed chromosome tests00:29:37 Toronto: why SHANK3 variants may be undercounted00:31:38 Shank3-related vs Shank3-unrelated PMS (inclusion)00:35:41 Deletions vs variants: what it can mean clinically

    39 min

  2. JAN 6

    Inside the Fight to Cure Rett Syndrome – Monica Coenraads Interview

    Monica Coenraads, founder and CEO of the Rett Syndrome Research Trust (RSRT), has led the charge to cure Rett Syndrome—raising over $123 million and driving multiple gene therapy programs now in clinical trials.In this in-depth conversation, Monica shares her personal journey from her daughter Chelsea’s diagnosis to building one of the world’s most impactful rare disease research organizations. She explains the evolution of Rett research—from the discovery of MECP2 to today’s cutting-edge genetic medicines including gene therapy, base and prime editing, and RNA trans-splicing.We discuss: • The founding of RSRT and early breakthroughs • The reversibility discovery that changed everything • The Taysha and Neurogene gene therapy trials • The future of Rett research (Roadmap to Cures 2.0) • How parents can catalyze scientific progress • The power of early diagnosis and newborn screeningStay tuned after the interview for updates on the latest Rett, STXBP1, and Phelan-McDermid Syndrome gene therapy trials.👉 Subscribe for more interviews with scientists, researchers, and advocates advancing gene therapy for rare genetic disorders.🌐 Visit GENErationHope.co for global updates and resources.🕒 Chapters / Timestamps00:00 – Introduction00:28 – About Monica Coenraads & RSRT01:53 – Chelsea’s Diagnosis and Early Signs05:04 – Discovering MECP2 and Rett Syndrome’s Cause07:22 – Founding the Rett Syndrome Research Foundation08:29 – The Breakthrough Reversibility Experiment11:10 – Turning to Gene Therapy (2008–2010)13:08 – Parental Perspective: Asking Naive but Important Questions15:23 – What is Rett Syndrome? Symptoms and Progression18:13 – Prevalence and Underdiagnosis: Newborn Screening Data22:07 – Diagnostic Delays and Barriers for Families25:58 – Founding RSRT: A Focus on Genetic Medicines27:24 – Major Milestones in 25 Years of Rett Research30:31 – Trials and Setbacks: Novartis, Avexis, and Lessons Learned32:20 – Advice for Newly Diagnosed Families36:22 – How RSRT Raised $100 Million Through Families38:05 – Why Funding Still Matters Most Today39:13 – RSRT’s Team and Family-Driven Urgency44:07 – The Importance of Early Diagnosis47:05 – Debating Newborn Screening Policy48:41 – The Current Gene Therapy Trials (Taysha & Neurogene)53:29 – Roadmap to Cures 2.0: What’s Next for Rett Research57:09 – The Future: Base Editing, Prime Editing, and RNA Approaches1:00:27 – The Challenges of Delivery (AAV9 and Beyond)1:02:05 – Ranking the Modalities & FDA Collaboration1:07:32 – Collaboration Across Rare Disease Communities1:08:47 – Final Thoughts & Message to Families1:09:30 – Closing Monologue: Updates on Rett & STXBP1 Trials

    1h 12m

  3. JAN 6

    Dr. Alex Kolevzon on Gene Therapy, SHANK3 & the Future of Treatment | Generation Hope

    Welcome to Generation Hope. In this wide-ranging interview, Dr. Alex Kolevzon (Mount Sinai) sits down with Ron to discuss the science, the trials, and the human side of gene therapy for rare neurodevelopmental disorders.In this episode we cover:• Dr. Kolevzon’s path into autism research and why focusing on genetics (like SHANK3) matters.• The evolution from symptom-based treatments to gene-targeted approaches.• Clinical progress: what early trials look like (design, dosing, age cohorts) and how behavioural therapies will work alongside gene therapy.• Biomarkers and outcome measures — EEG, imaging, and how those tools help stratify patients.• Neonatal sequencing and the ethical questions around early genetic screening.• Real family perspectives and why these advances could be transformative for children and adults living with Phelan-McDermid, Rett, STXBP1, Angelman and more.• A cautiously optimistic take on timelines and the potential societal impact — what a future with disease-modifying therapies might look like.If you care about gene therapy, rare genetic disorders, or the future of neurodevelopmental medicine, this conversation offers both scientific insight and real-world hope.📌 Visit our site for more interviews, updates, and resources: GENERationHope.co👍 Like this video if you found it helpful and subscribe to be notified when new interviews drop.🔔 Hit the bell to get updates about the documentary and Gene Therapy breakthroughs.

    50 min

  4. JAN 6

    Dr. Curtis Rogers on Phelan-McDermid: Diagnosis, Newborn Screening, AI & Gene Therapy Delivery

    Dr. Curtis Rogers is a Senior Clinical Geneticist at the Greenwood Genetic Center and a long-time leader in the Phelan-McDermid syndrome (PMS) community.In this wide-ranging conversation recorded at the 2024 Phelan-McDermid community conference, we talk about: • What inspired Dr. Rogers to pursue medicine and genetics • How Phelan-McDermid syndrome was first recognized • How families built a community even before the internet • How genetic testing evolved from early chromosome studies to today’s sequencing • Why access, wait times, and insurance can slow diagnosis • The promise—and ethical complexity—of newborn screening • Where AI is beginning to help in clinical genetics • Why delivering genetic medicines to the brain is one of the biggest real-world challengesGENEration Hope shares stories and science from the rare disease community—focused on what’s changing now, and what’s coming next.▶️ Subscribe for more interviews:  @GENErationHope_1  🌐 Learn more: generationhope.co#PhelanMcDermid #SHANK3 #RareDisease #Genetics #GeneTherapy

    56 min

  5. 2025-12-01

    Sequencing Every Baby? Newborn Genomes, GUARDIAN & Rett – Dr. Wendy Chung

    Newborn genome sequencing isn’t science fiction anymore. It’s already changing which babies get diagnosed, when they get treated, and how many families spend years in diagnostic limbo.When our daughter Evie started missing her milestones, we spent five years bouncing between specialists, MRIs, EEGs, blood tests, microarrays and more—with no answers. It took whole exome sequencing to finally reveal a point mutation in SHANK3, now known as Phelan-McDermid syndrome. Our story is heartbreakingly common for families with genetic disorders—and the emotional and economic cost is huge. In this episode of GENEration Hope, I sit down with Dr. Wendy K. Chung—clinical and molecular geneticist, Chair of Pediatrics at Boston Children’s Hospital and Harvard Medical School, and Principal Investigator of the GUARDIAN newborn genome screening study. We talk about: • How whole-genome sequencing (gWGS) is changing newborn diagnosis • What the GUARDIAN study is finding in over 13,000 babies so far • Why Rett syndrome is far more common than we thought (around 1 in 1,500 girls) • The week she diagnosed a 72-year-old and a 3-week-old with Rett • The ethics of telling parents about serious conditions when babies still look “perfectly fine” • How families can “stand up and be counted” in registries so they’re not left out of future trials • Why early diagnosis is essential for gene-targeted therapies—and why timing may one day mean treating even before birth

    48 min
  • 5 Episodes

About

In-depth conversations with scientists, clinicians, advocates, and families at the front lines of rare disease, gene therapy, and genomic medicine. Hosted by rare disease parent and filmmaker Ron Kleiman, GENEration Hope explores the science, the ethics, and the human stories behind the fight to give children with genetic disorders a better future.

Information

  • Creator
    GENEration Hope - Ron Kleiman
  • Years Active
    2025 - 2026
  • Episodes
    5
  • Rating
    Clean
  • Copyright
    © GENEration Hope - Ron Kleiman
  • Show Website
    GENEration Hope