GENEration Hope

Update for the week of September 28, 2026A historic week for rare disease families — Sanfilippo syndrome just got its first-ever approved treatment, the Angelman community has a bold new gene therapy program entering the pipeline, and an ASO milestone is bringing real hope to FUS-ALS families. But approval doesn't always mean access, and we're not shying away from that conversation.**In this week's update:**- [0:00] Intro & what's covered this week- [0:45] FDA approves Fayuvi — the first-ever gene therapy for Sanfilippo Syndrome Type A- [2:10] The $3.95M price tag: what it means for families trying to access this treatment- [3:20] Skylark Bio enters the Angelman arena with a new UBE3A restoration program- [4:35] Ionis reports positive Phase 3 results for ulefnersen in FUS-ALS- [5:40] Claude AI discovers a novel enzyme system — and what that could mean for biology- [6:30] Closing thoughts & where to find usGENEration Hope is a documentary and media platform covering rare genetic disorders, gene therapy, and the families navigating this world. Created by Ron Kleiman, a filmmaker and rare disease dad whose daughter Evie has Phelan-McDermid Syndrome. We cover what matters to families — not just investors.Subscribe and hit the bell 🔔 for weekly genetic medicine updates.**Find us here:**🌐 Website: https://generationhope.co📺 YouTube: @GENErationHope_1📸 Instagram: @GenerationHopeCo**Sources:**🔗 FDA Approval — Fayuvi / Sanfilippo Type A: https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-pediatric-patients-sanfilippo-syndrome-type🔗 Ultragenyx Price Announcement: https://www.cnbc.com/2026/09/18/ultragenyx-sets-3point95-million-price-for-rare-disease-gene-therapy.html🔗 Skylark Bio / Angelman Pipeline: [Business Wire link]🔗 Ionis / FUS-ALS Phase 3 Results: https://ir.ionis.com/news-releases/news-release-details/ionis-announces-positive-topline-results-phase-3-fusion-study🔗 Claude AI Enzyme Discovery: https://www.anthropic.com/news/claude-discovers-novel-enzyme-system---```0:00 Intro — A Historic Week for Rare Disease Families0:45 FDA Approves First Gene Therapy for Sanfilippo Syndrome Type A2:10 The $3.95 Million Question: Who Can Access Fayuvi?3:20 Skylark Bio Enters the Angelman Arena with New UBE3A Program4:35 Ionis Phase 3 Win: A Meaningful Milestone for FUS-ALS Families5:40 Claude AI Discovers a Novel Enzyme System6:30 Closing Thoughts — Till Next Time, Stay Hopeful```

In this GENEration Hope interview, Ron Kleiman speaks with Dr. Allyson Berent — rare disease mom, veterinarian, interventional specialist, researcher, biotech founder, and Chief Science Officer of FAST, the Foundation for Angelman Syndrome Therapeutics.After her daughter Quincy was diagnosed with Angelman syndrome, Allyson became one of the leading voices in parent-led drug development. Through FAST, she helped drive research programs that have moved from family urgency to real clinical development, including GTX-102, which is now in a fully enrolled global Phase 3 study, with data expected in the second half of 2026.In this conversation, we talk about Angelman syndrome, FAST, GTX-102, AS2 Bio, gene-targeted therapies, the realities of building treatments for rare diseases, and what happens when families refuse to wait for someone else to move the science forward.We also discuss the broader future of rare disease treatment — including ASOs, gene replacement, gene editing, stem-cell-based approaches, clinical trials, access, urgency, and the role families play in changing what is possible.If conversations like this are important to you, please subscribe, like, and share. It is the best way to support GENEration Hope and help us reach more families, researchers, clinicians, and advocates.Visit GENErationHope.co to watch more interviews, sign up for the newsletter, and follow our weekly updates on gene therapy, RNA therapy, newborn screening, clinical trials, and rare disease research.Subscribe to GENEration Hope on YouTube for more interviews and weekly updates.Disclaimer: This interview is for educational and informational purposes only and should not be taken as medical advice. Families should speak with their own physicians, specialists, or clinical trial teams about any treatment or research questions.#AngelmanSyndrome #RareDisease #GeneTherapy #RNATherapy #GTX102 #FAST #GenerationHope

Dr. Yoshitsugu Aoki is a physician-scientist at the forefront of RNA therapeutics and genetic medicine.As Director of the Department of Molecular Therapy at the National Center of Neurology and Psychiatry in Tokyo, Dr. Aoki has helped lead the development of antisense oligonucleotide (ASO) therapies for Duchenne muscular dystrophy—including viltolarsen, an exon-skipping therapy approved in both Japan and the United States.In this conversation, we explore how RNA therapies became a reality, what they’re doing for patients today, and where the field is heading next.⸻🔬 What we cover:What exon skipping is (in simple terms)How ASO therapies are helping Duchenne patientsBreakthrough clinical results and what they meanDelivering therapies to the brainThe future of RNA, gene therapy, and combination treatmentsHow AI and robotics could accelerate drug development⸻🌐 GENEration HopeI’ve launched the new GENEration Hope website along with a newsletter and weekly news updates covering the latest breakthroughs in genetic medicine.👉 Visit: generationhope.co👉 Subscribe to stay up to date on what’s coming nextIf you find this valuable, liking and subscribing really helps support the project.⸻⚠️ DisclaimerThis content is for informational purposes only and is not medical advice.

Welcome — I’m Ron Kleiman, and this is GENEration Hope.In this episode, I’m joined by Dr. Guoping Feng, Professor of Neuroscience at MIT, affiliated with the McGovern Institute, the Yang Tan Collective, and the Broad Institute. We talk about: • Why he left medicine to pursue research that could lead to treatments for kids  • The urgency of moving faster — because “kids are growing up every day”  • Gene therapy delivery, the blood–brain barrier, and what’s changing with new vectors  • How AI and machine learning are speeding up vector design and behavioral testing  • The miniSHANK3 approach: why the full SHANK3 gene is too large, how a mini gene is designed, and how it’s delivered  • Where genome editing (base editing / prime editing) may fit in the future If conversations like this help, please subscribe, like, and share — it’s the best way to support GENEration Hope. This content is for informational purposes only and is not medical advice.Chapters00:00 Cold open: the urgency + “that’s our hope” 01:07 Intro: state of genetic medicine (April 2026) + guest setup 04:29 Who Guoping is (MIT / Yang Tan Collective) + mission 04:54 Hangzhou med school → why he shifted to research 06:12 From fruit flies to mouse models (Drosophila → mammals) 06:40 PhD at SUNY Buffalo + moving into mouse genetics 07:20 Postdoc at WashU + “benefit patients” as the goal 07:52 Conditions his lab targets: PMS, Rett, SYNGAP1, Dravet 09:23 Can AI speed discovery? What actually moves things faster 10:15 Donors + centers at MIT + enabling translation to clinic 11:26 “Kids are growing up every day” + the role of young scientists 15:20 Why primate studies matter + safety confidence 16:25 Ben Deverman vectors + BBB is species-specific 17:39 ICV vs IV delivery + combining gene therapy with better capsids 20:14 AI protein design + ML behavior tracking + trial design 22:25 Lisa Yang’s story + SHANK3 connection 25:01 Why rare monogenic disorders need resources + “technical problem” 28:50 What a treatable world could look like for families 31:36 Brain plasticity + what changes might look like over time 32:46 Why foundations matter + speeding recruitment and development 36:20 Mini gene + safer genome editing (base editing) 40:30 Timeline: getting things into clinic (optimism + under 5 years) 41:53 Jaguar license: miniSHANK3 and why SHANK3 is too big 42:25 How they chose what to keep/remove in miniSHANK3 44:48 Why not split into two vectors? the delivery problem 46:33 Base editing limits + prime editing + Prime Medicine 48:54 Who owns IP at MIT/Broad + licensing basics 50:29 Explain it simply: what vectors are + how AAV9/ICV works 53:04 CSF basics + neuron counts + how much coverage is needed 55:26 Distribution challenges + future vectors + re-dosing & antibodies 58:13 Wrap-up + thanks + outro 

Sue Lomas helped build the Phelan-McDermid Syndrome community in the earliest days—when families were scattered, information was scarce, and finding “your people” took persistence. In this conversation, Sue and I talk about how rare-disease communities form, why early diagnosis and genetics matter, and how parent-led foundations can accelerate research by connecting families, clinicians, and scientists.We also explore the emotional side of the journey: the turning points that reshape what you believe is possible, the role of family support behind the scenes, and what purpose looks like after stepping away from a long mission.If you’re a rare disease parent, advocate, researcher, or someone who cares about the future of gene-based medicine—this one is for you.If this resonates, please like, subscribe, and share it with a family who needs hope today.Chapters 00:00 Cold Open: A moment that captures the mission01:33 Connecting with other foundations (learning by reaching out)03:42 Turning point: realizing more is possible (communication)06:40 The feeling of acceleration in research and progress09:53 The early days: “by luck” and finding the right people11:49 First conferences and building real community13:49 The support system: partnership and what it takes16:19 Early diagnosis & genetics (why it matters)19:09 Growing a foundation while staying cohesive22:03 “Shank3” in a classroom: when awareness spreads25:08 How this journey changes parents over time29:43 Advice for parents: planning, siblings, and support33:17 Retirement, purpose, and what comes next36:50 Final reflections and gratitude