All episodes
Finding Strength
A Non-Profit Works to Advance a DMD Gene Therapy
Accepting What We Can’t Understand
A Gene Therapy Company Born from a Father’s Efforts to Save his Daughter
Lowering Barriers to Clinical Trial Participation with Do-It-Yourself Blood Sample Collection
Scaling N-of-1 Therapies to Viability
Building Gene Therapies that Address Gain and Loss of Function Simultaneously
How One Woman Climbed from Patient to Advocate
Shortening the Diagnostic Odyssey
Making Exomes More Revealing
How One Patient Organization Catalyzed Drug Development
Enabling On-Demand Therapies
After Driving an N-of-1 Therapy for Her Son, an Advocate Turns to Helping Others
Putting Rare Disease Organization in the Business of Drug Development
Understanding the Many Questions Gene Therapies Raise
A Test to Identify People Likely to Develop ALS
How an Ultra-Rare Disease Patient Foundation Advanced a Gene Therapy
Making the $10 Genome a Reality
A No-Nonsense Effort to Develop a Therapy that Works Across Genetic Diseases
Mapping a Perilous Journey with Humor
Restoring Vision in Inherited Retinal Disease
Bringing Genome Sequencing to Rural Populations
Addressing a Blind Spot in Treatments for the Cornea
Taking a Different Approach to Rare Epilepsies
A Rare Disease Drug Developer Tries to Earn Its Stripes
Using Plasma to Treat Rare Diseases
Differentiating Gene Therapies through Regulatory Elements
How One Patient Organization Leverages Research Investments
Charging into the Storm
A Gene Therapy Developer that Embraces Different Models for Reaching Patients
Using Directed Evolution to Develop New Vectors for Genetic Medicines
Addressing a Shortage of Genetic Counselors with AI
A Small Molecule Therapy to Regenerate Muscle in People with DMD
Forging a Faster Path for Gene Therapies
Determining the Value of Rare Disease Therapies
Buying and Building a Gene Therapy Presence
A Clinical Trial Failure Derails a Promising Technology
Helping People with Undiagnosed Rare Diseases Find Answers
Speeding and Scaling the Development of Genome Editing Therapies
Getting a Next-Generation Genome Editing Therapy for Sickle Cell Disease Back on Track
Trying to Break a Leg in a Wheelchair
A Drug Developer that Makes Pediatric Cancers a Priority
Harnessing the Body’s Natural RNA Machinery to Treat Diseases
Targeting the Leading Cause of Death in Friedreich’s Ataxia with a Gene Therapy
How Inhaled mRNA May Help Rare Disease Patients Breathe Easier
Changing What’s Possible with Cell and Gene Therapies
Why Flying with a Wheelchair Is a Civil Rights Issue
Mapping Spheres of Influence
Bringing Precision to the Treatment of Rare Cancers
The Challenges of Developing a Therapy for Pregnant Women with A Rare Condition
How One Drug Developer Is Addressing Health Inequities
Accelerating the Development of Genetic Medicines with AI
Leveraging AI to Address the Neuropsychiatric Conditions Associated with a Rare Disease
In Pursuit of a Treatment for His Son, A Lawyer Becomes a Biotech Executive
In Push for Treatment, a Patient Organization Becomes a Trial Sponsor
Delayed Diagnosis of Rare Diseases Takes Staggering Economic Toll
A Cell Therapy to Control Heart-Damaging Inflammation in Duchenne
Stimulating the Growth of Muscle Mass in People with Neuromuscular Diseases
Turning Grief into Action
A Plea to the FDA to Give an Ultra-Rare Disease Drug a Fair Hearing
How the Woolly Mammoth Beat a Path to Better Gene Therapies
A Genetic Counselor’s Journey into Patient Advocacy
A Company in the Fold of Rare Disease
Disabling Antibodies that Drive Rare, Immunological Conditions
Keeping the Sentinels of the Brain Vigilant
Considering the Unfinished Work in Cystic Fibrosis
How to Advocate for Yourself as You Battle Cancer
Targeting Neuroinflammation to Treat ALS
Leveraging Community Partnerships to Address a Rare Disease Behind a Medical Mystery in New Mexico
Accelerating Gene Editing Therapies for Rare, Neurological Conditions
Inhibiting Electrical Activity in Rare, Seizure Disorders
Improving the Function and Usability of Clothing for People with Disabilities
Treating Cardiopulmonary Disease with Inhaled Targeted Therapies
A Patient-Driven Registry Focused on Health-Related Quality of Life Data
An Ally for the Undiagnosed Emerges
Help for Rare Disease Patients That’s Just a Click Away
Diagnosing Autism with a Single Strand of Hair
Bringing Regenerative Medicine to a Rare Bone Condition in Children
Bringing Precision to CRISPR-Based Genome Editing
Capturing Patients’ Experience in Their Daily Lives
From One to Many
A Nasal Spray to Curb Excessive Eating in Prader-Willi
How One Foundation Is Laying the Groundwork to Advance Treatments for an Ultra-Rare Disease
Forging a New Path for Medicine
Restoring Hearing through Gene Therapies
Creating a Sustainable Reimbursement Model for Ultra-Rare Therapies
Lumos Hopes Its Oral Alternative to HGH Will Fuel Its Growth
Advancing a Gene Therapy for a Rare and Fatal CNS Disorder
Addressing the Barriers to Patient Participation in Clinical Trials
A Venture Philanthropist Makes the Case for Advocates Taking Equity
Seeking a Sustainable Business Developing on N-of-1 Therapies
How One Drugmaker Reaches out to Communities at Greater Risk for Rare Heart Condition
A Next-Generation RNA Therapy Targets Telomere Disorders
BridgeBio Advances Therapy for Limb-Girdle Muscular Dystrophy that Started with Two Patient Families
Translating Urgency into Science
Empowering Ultra-Rare Disease Patients to Pursue the Discovery of Treatments
Why a Topical Cannabidiol Gel May Help Treat the Behavioral Symptoms of Fragile X
An Ultra-Rare Disease Drug Developer Tries to Navigate Regulatory Uncertainty
Powering Cells in People with Rare Mitochondrial Diseases
Powering Weakened and Stressed Cells in ALS to Function Better with Nanocrystal Therapy