#RARECast

How Parents Took Development of a Gene Therapy into Their Own Hands Nicole Johnson and Nasha Fitter, co-founders of the FOXG1 Research Foundation, discuss how a parent-driven foundation became a virtual biotech capable of advancing a gene therapy into human clinical t...

Nicole Johnson and Nasha Fitter, co-founders of the FOXG1 Research Foundation, turned a parent-driven effort into a virtual biotech advancing a gene therapy into the clinic. A must-read for rare disease communities. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/ho...

Matching the Right Therapy to the Right Child with a Rare Cancer Jim Foote, CEO of First Ascent biomedical, discusses how combining genomics, functional assays, and AI offers a realistic path to better outcomes, fewer lifelong toxicities, and more rational use of e...

Jim Foote, First Ascent Biomedical CEO, explains how combining genomics, functional assays, and AI could transform rare pediatric cancer care—improving outcomes, reducing lifelong toxicities, and optimizing use of existing drugs. @globalgenes.bsky.social #RARECast
globalgenes.org/raredaily/ma...

A Mother’s Journey to Rewrite a Neurodevelopmental Disorder Špela Miroševič, a psychotherapist and biopsychologist working as a researcher at the Medical University Ljubljana in Slovenia […]

Špela Miroševič, founder of the CTNNB1 Foundation, shares how a parent-led effort built an international research team, raised millions, and brought a gene therapy for CTNNB1 syndrome to a first-in-human trial. @globalgenes.bsky.social #RARECast

How a Foundation Built Its Own Drug Program for an Ultra-Rare Disease Schaaf-Yang syndrome is an ultra-rare neurodevelopmental disorder that is closely related to but distinct from Prader-Willi syndrome. […]

Foundation for Prader-Willi Research's Theresa Strong discusses the org's efforts to develop an ASO therapy for Schaaf-Yang syndrome and how patient-led organizations can drive translational programs for ultra-rare conditions. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/ho...

From Bloodletting to Breakthroughs in PV Hematologist-oncologist Marina Kremyanskaya and PV patient advocate Nona Baker, discuss the rare blood cancer polycythemia vera, how it reshapes everyday life for patients and families, and the promis...

Hematologist-oncologist Marina Kremyanskaya and PV patient advocate Nona Baker discuss the chronic rare blood cancer, how it reshapes everyday life for patients and families, and the promise of new therapies in development. @globalgenes.bsky.social #RARECast globalgenes.org/raredaily/fr...

When Endpoints Miss the Point Hope for PDCD Founder and CEO Frances Pimentel and parent board member Kim Higbee about the community’s reaction, the gap between patient experience and study endpoints, and the struggle to get regula...

Hope for PDCD Founder/CEO Frances Pimentel and parent board member Kim Higbee share how PDCD families are reacting to the FDA’s refusal of an experimental therapy—and why endpoints in a study miss the lived patient benefits. @globalgenes.bsky.social #RARECast
globalgenes.org/raredaily/65...

Reopening the Developmental Window in Rett Syndrome with a Gene Therapy Rachel McMinn, CEO of Neurogene, discusses Rett syndrome, the company’s technology for controlling gene expression, and the encouraging data they’ve seen so far.

Rachel McMinn, CEO of Neurogene, about Rett syndrome, the company’s technology for controlling gene expression, and the encouraging data they’ve seen so far. @globalgenes.bsky.social #RARECast
globalgenes.org/raredaily/re...

A Data Strategy to Capitalize on a Multi‑Trillion Dollar Opportunity Will Greene, lead author of a new paper from the World Economic Forum urges policymakers, payers, and business leaders to see rare diseases as one of the greatest underappreciated opportunities in glo...

Will Greene, lead author of @weforum.org paper, discusses how smarter collection, sharing and analysis of rare disease data could unlock multi-trillion dollar gains in human health—and what it’ll take to rally global stakeholders. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/a-...

When a Gene Echoes Through a Family Rajani Aatre, senior genetic counselor at Michigan Medicine’s Frankel Cardiovascular Center, discusses the importance of cascade genetic testing, the ethical tension between honoring a patient’s priva...

Rajani Aatre of Michigan Medicine discusses the importance of cascade genetic testing, ethical tensions around its use, and the question of how to share life changing genetic information with relatives. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/wh...

Changing the Autoimmune Disease Playbook with RNA-Engineered CAR T Cells Autoimmune diseases like myasthenia gravis have long forced patients to trade daily function for chronic immunosuppression, but […]

Cartesian Therapeutics Carsten Brunn discusses how the company’s RNA‑engineered CAR T cells target the root cause of autoimmune diseases, data from its study in myasthenia gravis, and the potential to expand indications. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/ch...

Rewriting Rare Disease R&D with Foundation Models Jean-Philippe Vert, co-founder and CEO of Bioptimus, discusses the inherent messiness of biology, the potential to transform rare disease drug development with an AI-driven foundation model, and how u...

Jean-Philippe Vert of Bioptimus discusses the inherent messiness of biology, the potential to transform rare disease drug development with an AI-driven foundation model, and how this could enable repurposing of existing drugs. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/re...

Resetting Aberrant Tregs Epigenetically to Treat Autoimmune Diseases Michael McCullar, CEO of RegCell, discusses the role of dysfunctional Tregs in autoimmune diseases, the firm’s use of epigenetically modified regulatory T cells to treat these conditions, and how this...

Mike McCullar of RegCell discusses the firm’s use of epigenetically modified regulatory T cells to treat autoimmune conditions, and how this approach can suppress harmful immune responses without causing broad immunosuppression. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/re...

One Rare Mother’s Quest to Rewrite Her Son’s Future with a Gene Therapy Amber Freed, founder and CEO of SLC6A1 Connect, discusses how as a parent with no scientific background she catalyzed the development of the first experimental gene therapy for SLC6A1-related disorder...

Amber Freed of Slc6a1 Connect, discusses how she catalyzed the development of the first experimental gene therapy for SLC6A1-related disorder, mobilized scientists, and what other rare disease communities can learn from her journey. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/on...

Transforming TSC Epilepsy with a Precision Therapy Allison Hulme, CEO of Aeovian Pharmaceuticals, discusses tuberous sclerosis complex, the problems with existing therapies for seizures related to the condition, and the opportunity for its next-genera...

Allison Hulme, CEO of Aeovian Pharmaceuticals, discusses tuberous sclerosis complex, the problems with existing therapies; and the opportunity for its next-generation, selective mTOR inhibitors to treat TSC and beyond. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/tr...

Matt Wood @oxfordharrington.bsky.social discusses the challenges of rare disease drug development, the resources the center brings to address them, and the mechanisms it has established to accelerate therapeutic development. @globalgenes.bsky.social #RARECast

globalgenes.org?post_type=ra...

Turning a Rare Cancer into a Call to Action Floyd and Monique Stewart discuss how they navigated the healthcare system after Floyd's diagnosis with a rare cancer, the strain the experience put on their family, and why today they are rare diseas...

Floyd and Monique Stewart discuss navigating the healthcare system with a rare cancer diagnosis, the strain the experience put on their family, and why today they are rare disease advocates for families dealing with similar problems. @globalgenes.bsky.social #RARECast
globalgenes.org/raredaily/tu...

A Venture Fund that Leverages Patient Experts to Target Autoimmune Diseases Steven St. Peter, co-founder and managing director of Vie Ventures, discusses the firm’s investment model, its initial focus on immune-mediated diseases, and its work with major patient organizations.

Steven St. Peter, M.D., co-founder and managing director of Vie Ventures, discusses the firm’s investment model, its initial focus on immune-mediated diseases, and its work with major patient organizations. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/a-...

Navigating Your Child’s Rare Disease Nikki McIntosh, author of “Rare Mamas: Empowering Strategies for Navigating Your Child’s Rare Disease,” discusses her new book, the medical, emotional, and logistical challenges faced by rare disease ...

Nikki McIntosh, author of “Rare Mamas: Empowering Strategies for Navigating Your Child’s Rare Disease,” discusses her new book, the challenges faced by rare disease families, and the importance of making time for self-care. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/na...

Changing a Treatment Landscape by De-Risking Drug Development Andrew Rosen, CEO of the National Ataxia Foundation, discusses the challenges of developing therapies for spinocerebellar ataxia, the critical role of patient-led organizations in early-stage research...

Andrew Rosen @ataxiafoundation.bsky.social, discusses the critical role of patient-led organizations in early-stage research and advocacy, and the recent surge of therapeutic activity targeting these neurodegenerative conditions. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/ch...

Transforming Real-Word Patient Data into Breakthroughs Jeff Brown, chief scientific officer of TriNetX, discusses how real-world data can address common challenges in rare disease research, the hurdles that need to be addressed, and how advances in AI cou...

Jeffrey Brown CSO of TriNetX, discusses how real-world data can address common challenges in rare disease research, the hurdles that need to be addressed, and how advances in AI could revolutionize rare disease research. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/tr...

Taking Aim at Huntington’s Disease and Other Repeat Expansion Disorders Prarthana Khanna, vice president of corporate business development and strategy for Vico, discusses Huntington's disease, the company’s experimental ASO to target the disease, and why it has the poten...

Prarthana Khanna, VP of corporate business development and strategy for Vico Therapeutics, discusses Huntington's disease, the company’s experimental ASO, and why it has the potential to address multiple neurological diseases. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/ta...

Learning to Be a Caregiver and Advocate Philippa Ward discusses her journey as the mother of a child diagnosed with tuberous sclerosis complex, the challenges posed by the condition’s complexities, and how she found both a community of supp...

Philippa Ward discusses her journey as the mother of a child diagnosed with tuberous sclerosis complex, the challenges posed by the condition’s complexities, and how she found both a community and her own voice as an advocate. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/le...

Improving Rare Disease Care through Partnerships Laura Russo, U.S. patient engagement lead for Pfizer, discusses how the company’s patient-facing teams work to bridge health systems and patient communities, how they help people with rare diseases na...

Laura Russo, U.S. patient engagement lead for Pfizer, discusses how the company’s patient-facing teams work to bridge health systems and patient communities to improve access and care. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/im...

A Call on the FDA for Timely Reviews of Life-Saving Therapies for Rare Diseases Kristin McKay, CEO of the Hunter syndrome patient advocacy organization Project Alive, about the need for new therapies, the importance of early detection, and the patient community’s concerns with re...

Kristin McKay, CEO of Project Alive, discusses the need for new therapies for Hunter syndrome, the importance of early detection, and the patient community’s concerns with regulatory delays in approving needed treatments. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/a-...

The Need to Look Beyond Seizures When Treating DEEs Amelie Lothe, global medical community head for rare epilepsies at UCB, about the importance of viewing developmental and epileptic encephalopathies as complex neurodevelopmental conditions, the need ...

Amélie Lothe, global medical community head for rare epilepsies at UCB, discusses the importance of looking beyond seizures to view developmental and epileptic encephalopathies as complex neurodevelopmental conditions. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/th...

Taking On Big Competitors with an Oral Therapy to Treat Achondroplasia Todd Harris, CEO of Tyra Biosciences, discusses the company’s experimental once-daily, oral medicine for achondroplasia; what’s known about it from studies conducted to date, and why he believes it wi...

Todd Harris, CEO of Tyra Biosciences, discusses the company’s experimental oral medicine for achondroplasia, studies conducted to date, and why he believes it will offer competitive advantages over existing therapies. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/ta...

Going Viral to Fight Brain Cancer Paul Peter Tak, president and CEO of Candel Therapeutics, discsses its viral immunotherapy, how it works, and what clinical studies have shown to date.

Paul Peter Tak, president and CEO of Candel Therapeutics, discusses the company's viral immunotherapy for brain cancer, how it works, and what clinical studies have shown to date. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/65...

David Jenkinson of @lifearc.bsky.social discusses the children’s cancer therapeutics consortium C-Further, the challenges of developing treatments for childhood cancers, and why new models for advancing these therapies are needed. @globalgenes.bsky.social #RARECast

open.spotify.com/episode/13td...

Sometimes the Hoofbeats Do Belong to Zebras Robin Williams, assistant professor of pediatric hematology/oncology at the University of Minnesota Masonic Children's Hospital, describes the case of Avion, a 15-year-old who became critically ill wh...

Robin Williams of UofM Masonic Children's Hospital describes the medical mystery of a 15-year-old who became critically ill when he was admitted into a PICU and what it took to diagnose him with the ultra-rare disease TAFRO. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/so...

Using AI Open Innovation to Tackle ALS Tris Dyson, managing director of Challenge Works, about his diagnosis of ALS, the case for using a prize to spur innovation, and the potential for leveraging AI to find treatments for the disease.

Tris Dyson, managing director of Challenge Works, discusses his diagnosis of ALS, the case for using a prize to spur innovation, and the potential for leveraging AI to find treatments for the disease. @globalgenes.bsky.social #RARECast

globalgenes.org/raredaily/us...