All episodes

Yearning for Normal

Building Better Rare Disease Data

Using AI to Help Patients Get the Care They Need

Targeting Immune Dysfunction in ALS

When the Patient Is Left to Connect the Dots

Enabling Patient Foundations to Build the Next Generation of Genetic Therapies

Using Exosomes to Tackle the Delivery Challenge of Genetic Medicines for the Brain

Building a Roadmap to Treat a Rare Neurodevelopmental Condition

The Long Road from the NICU to New Therapies

Stopping Guillain-Barré Syndrome at Its Source

From Repeated Surgery to a Precision Patch

Curing Sickle Cell Before Life Begins

Spotting Neuromuscular Red Flags

Expanding into a Global Rare Disease Player through Deal-Driven Innovation

When Geography, Cost, and Policy Become as Life-Limiting as a Disease

A One-Time Cell Therapy to Reset the Immune System in Autoimmune Diseases

Building the Infrastructure for Made‑to‑Order Gene Therapies

Rewiring the Rare Disease Diagnostic Odyssey

Emerging from a Life in the Shadows

Fitting Big Genes into Small Vectors

Targeting Iron Dysregulation in the Neurodegenerative Condition MSA

Long Reads, Shorter Journeys

The Critical Role of Patient Community-Industry Partnership in Advancing a Gene Therapy

Capturing the Lived Experience of Rare Disease

Raising Awareness of Clinical Trials

Using AI and Longitudinal Data to Transform Rare Disease Care

Cutting through the Diagnostic Maze for Rare Diseases

How Parents Took Development of a Gene Therapy into Their Own Hands

Matching the Right Therapy to the Right Child with a Rare Cancer

From Treating Symptoms to Addressing Causes in Rare Autoimmune Diseases

A Mother’s Journey to Rewrite a Neurodevelopmental Disorder

How a Foundation Built Its Own Drug Program for an Ultra-Rare Disease

From Bloodletting to Breakthroughs in PV

When Endpoints Miss the Point

Reopening the Developmental Window in Rett Syndrome with a Gene Therapy

A Data Strategy to Capitalize on a Multi Trillion Dollar Opportunity

When a Gene Echoes Through a Family

Changing the Autoimmune Disease Playbook with RNA-Engineered CAR T Cells

Rewriting Rare Disease R&D with Foundation Models

Resetting Aberrant Tregs Epigenetically to Treat Autoimmune Diseases

Finding a Ready Treatment for a Newly Discovered, Ultra-Rare Disease

One Rare Mother’s Quest to Rewrite Her Son’s Future with a Gene Therapy

Transforming TSC Epilepsy with a Precision Therapy

Bridging the Valley for Rare Disease Drug Development

Turning a Rare Cancer into a Call to Action

Developing a New Approach to Cystic Fibrosis to Improve Outcomes

Finding Strength in Weakness

Developing Targeted Therapies for a Rare Autoimmune Disease

A Venture Fund that Leverages Patient Experts to Target Autoimmune Diseases

Navigating Your Child’s Rare Disease

Changing a Treatment Landscape by De-Risking Drug Development

Transforming Real-World Patient Data into Breakthroughs

Taking Aim at Huntington’s Disease and Other Repeat Expansion Disorders

Learning to Be a Caregiver and Advocate

Improving Rare Disease Care through Partnerships

A Call on the FDA for Timely Reviews of Life-Saving Therapies for Rare Diseases

The Need to Look Beyond Seizures When Treating DEEs

Taking On Big Competitors with an Oral Therapy to Treat Achondroplasia

Going Viral to Fight Brain Cancer

Changing the Playbook on Childhood Cancers

Sometimes the Hoofbeats Do Belong to Zebras

Breathing Easier with a Breakthrough Immunotherapy

Using AI Open Innovation to Tackle ALS

Recovering What’s Lost in Translation

Targeting Hunger Rather than Appetite in Prader-Willi Syndrome

A Rare-to-Common Business Model

Leading a Rare Youth Movement

Developing Gene Therapies that Work Across Mutations

Eyeing A Challenge to a Blockbuster

Like Mother, Like Child

Transforming from Grandmother to Mother to Advocate

Overcoming a Delivery Challenge of Retinal Gene Therapies

A Gene Editing First Augurs an Era of Bespoke Therapies

How One Patient Organization Drives Drug Development

Using CRISPR to Modulate Gene Expression

Satisfying the Hunger for a Prader-Willi Therapy

How an Academic Medical Center Helped Change the Landscape for a Rare Disease

Improving Outcomes for People with a Set of Rare Cancers

An Effort to Build a Better DMD Gene Therapy

A Once-Failed Pain Therapy Shows Potential in a Neurodevelopmental Disorder

Advancing a Cutting-Edge Therapy for a Rare, Childhood Cancer

Learning to Take His Vitamins

The First Treatment for a Rare Neurodegenerative Condition Awaits FDA Approval

Engineering Skin Bacteria to Be Live Biotherapeutics

Seeing the Gene and Cell Therapy Translational Divide as an Opportunity

My Mother, Myself, and ALS

From Immovable Object to Advocacy Force

A Rapid and Scalable Approach for Screening Personalized ASOs

Addressing the Disease Mechanism of a Rare Kidney Disease

The Mother of a Son with SCD, Applies Direct Experience to Her Clinical Trials Work

A First for Rett Syndrome with More in the Pipeline

A Heart Attack that Led to a Rare Disease Diagnosis

Targeting Rare Liver Diseases with Gene Editing Therapies

Using AI to De-Risk Rare Disease Drug Development

Addressing a Growing Demand for Plasma-Derived Therapies

Empowering Patients with Data to Drive Drug Development

How Advocates Are Advancing a Treatment for an Ultra-Rare Disease

Engineering B Cells to Produce Therapeutic Proteins

A Pipeline Win as BridgeBio Learns to Balance Theory with Practice

Considering What It Will Take for Payers to Embrace Advances in Sequencing