All Episodes
RARECast — 602 episodes
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
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
Developing a New Class of Therapies Based on a Natural Cargo Carrier
Reaching Beyond the Limits of Enzyme Replacement Therapies with Gene Therapies
One Woman’s Journey as a Caregiver to a Husband with Frontotemporal Dementia
Treating Rare Endocrine Disorders with Therapeutic Peptides
Tackling the Pricing Challenges for Advanced Therapies for Rare Diseases
Addressing the Current Limitations of AAV Gene Therapies
Examining the Legislative Landscape for Rare Disease Drug Development
How a Drug Setback Became a Patient Community’s Gain
Helping Regulators and Drug Developers Understand the Challenges of Living with Fabry Disease
Addressing Racial Disparities in a Rare Blood Cancer
How New Sequencing Technology Promises to Alter the Diagnostic Odyssey
Leveraging Technology to Empower Patients and Decentralize Clinical Trials
Equipping The Next-Generation Rare Disease Patient Advocate
How a Family Raced from Diagnosis to Experimental Gene Therapy in Three Years
How One Advocate Went from Losing His Hearing to Being Heard
Building a Pipeline of Therapies to Treat Rare Mineralization Disorders
Advancing an Oral Alternative to Infused and Injected Therapies for HAE
Embracing the Promise of Patient-Centered Biotechnology
Learning to Live with Loss
Using Cryptocurrency to Tap into the Wisdom of Crowds
A Therapy for a Rare Neurodegenerative Disease Moves Towards Regulatory Review
Transforming the Treatment of Neuromuscular Diseases with Next-Gen Oligonucleotides
Teaching the Immune System to Let Medicines Do Their Job
Designing Clinical Trials with the Patient in Mind
Keeping Clinical Trials Running Smoothly
A Vision for Patient-Centric Gene Therapy Development
Using Genetic Testing to Address Disparities in Care for Kidney Disease
Why Reforms to the Accelerated Approval Pathway Threaten Rare Disease Drug Development
A Longstanding Academic-Nonprofit Collaboration Gives Rise to an ALS Drug Company
Targeting Regulatory RNA to Upregulate Gene Expression to Treat Rare Diseases
Developing a New Approach to Treat Rare, Autoimmune Conditions
Bridging the Gap Between Basic and Commercial Research for Rare Disease
Stoking Functional Copies of Genes to Compensate for Mutated Ones
Targeting ALS with Synergistic Combinations of Therapies
How a Polish Rare Disease Organizations Is Helping Its Ukrainian Neighbors
Powering a New Era of Genetic Medicine
Searching for a Diagnosis
A Novel Way to Deliver Rare Disease Therapies
Bringing Diversity, Equity, and Inclusion to the Books We Read
From Mila to Millions: Scaling N of 1 Therapies
Genetically Modifying Patients’ Skin Cells to Treat Rare Diseases
Targeting Rare, Immunologic Disorders
Harnessing a Natural Mechanism to Silence Disease
Advancing Precision Medicine with Patient Data
Pregnancy and Motherhood for a Woman with SMA
Steps to Improve Data Gathering of Rare Diseases
Rare Patients Learn to Make Their Voices Heard
Empowering Patient Organizations with Real-World Data
A Healthcare Communications Student Gets an Education as a Patient
Expanding the CRISPR Toolkit
Marrying Antibodies to RNA Therapies to Target Previously Inaccessible Tissues and Cells
Expanding Access to Whole Genome Sequencing Across the Globe
A First-in-Class Approach to Treating a Rare and Chronic Liver Disease
A New Approach to Treating a Rare Endocrine Disorder
Detecting Genetic Disease Prior to Birth
Turning Words into Action: Equity, Diversity, and Inclusion in Rare Disease
Chasing Cures
A Map to Navigate A Rare Disease
A Popular Cancer Target Is Eyed for a Rare Immune Disorder
Leveraging a Gene Therapy Approach to Maximize Speed and Minimize Costs
Programing the Body to Make Its Own Medicine with Gene Therapy
Developing in Vivo Gene Editors that Target Liver Diseases
A Find-and-Replace Approach to Fixing the Mutation Underlying Sickle Cell Disease
A Bet on a Unique Set of Vectors
How a Rare Diagnosis Impacts a Family
Transforming the Rare Disease Landscape with Data
Creating a Playbook for Bespoke Gene Therapies
Finding Answers for Undiagnosed Patients with Rare Genetic Diseases
How a Familiar Face Can Lead to a Rare Disease Diagnosis
Bringing the Trial to the Patient
Targeting Rare and Chronic Kidney Diseases
Addressing the Delivery Challenges of Genetic Medicines
Targeting Tissues Throughout the Body with RNA Therapies
Delivering Rare Disease Therapies to Patients in Need
An Advocate's Journey through Diagnosis, Loss, and Hope
Using Model Systems to Find Drugs to Repurpose for Rare Diseases
How a Small and Young Foundation Catalyzed Research into a Rare Disease
Overcoming the Limitations of Conventional Cell Engineering
Experimental Therapy for Rare Endocrine Disorder Offers Hope of Improved Care
Forging Gene Therapy Capacity and a Pipeline at the Same Time
Using A Natural DNA Repair Process to Improve Genetic Medicines
Empowering Rare Disease Patients with their Own Health Records
Targeting CNS Disease with Gene Therapies
A New Therapy Offers A Different Approach to Inhibiting the Complement System
Bringing Aberrant Proteins Back into the Fold
A Cat who Curates Rare Mice
Putting the Patient at the Center of Rare Disease Clinical Trials
Creating a Toolkit to Accelerate the Development of Gene Editing Therapies
PTC Looks to Advanced Therapies
Going to Extreme Lengths
Everything’s up to Date in Kansas City, at Least When It Comes to Genomics
Choosing the Right Viral Vector for a Gene Therapy
A Software Platform to Give Patients the Tools to Build Treatments for Rare Genetic Diseases
Side Effects: The Toll a Rare Disease Can Take on a Family in Pursuit of a Cure
Realizing the Potential of CRISPR Gene Editing
Understanding the Economic Toll of Rare Disease in the United States
The Promise of Gene-Based Therapies for Neurodegenerative Conditions
Moving Beyond Viral Vectors for Gene Therapies
Acquisitions Help Jazz Build Toward Commercial Crescendo
Powerful Gene Editing Approach Offers the Promise of Correcting a Range of Rare Diseases
A Child's-Eye-View of Clinical Trials
Using Nanoliposomes to Make Cancer Therapies Safer and More Effective
Accelerating Treatments for Rare Disease through Data Sharing
Treating the Root Cause of Sickle Cell Disease
Targeting a Common Pathway in Genetic Forms of Obesity
After Pruning Orchard, Gaspar Focuses on High Value Opportunities
Writing a New Chapter of Genetic Medicine
How an Ultra-Rare Disease Patient Organization Drove Research to a Treatment
With a New Identity, Travere Thearpeutics Seeks to Find Its True Path
Making Gene Therapies Accessible to Patient with Ultra-Rare Conditions
Using RNA Therapies to Target Inherited Retinal Diseases
Part 4-Gene Therapy: A Researcher’s Perspective
Part 3-Gene Therapy: An Industry Perspective
Part 2-Gene Therapy: A Patient Advocate's Perspective
Part 1-Gene Therapy: A Genetic Counselor’s Perspective
An App to Make Patients the Experts in their Own Conditions
Pursuing a New Target for Autoimmune Diseases
Finding a Rare Friend
Industrializing Individual Therapies for People with Rare Conditions
Rare Disease Advocate Turned Filmmaker Turns Lens on his Son
Inhibiting Signaling that Drives Growth of Rare Malformations
Readying a Rare Disease Community for the Availability of Treatments
Forging a Rare Disease Research Agenda
Delivering Injectable Drugs Orally
What Young Adults with Rare Conditions Need to Know About Health Insurance
Mirum Prepares to Seek Approval for Rare Liver Disease Therapy
Payer Perceptions of Fairness in Pricing Rare Disease Therapies
Improving Narcolepsy Therapy with Drug Delivery Technology
Fighting the Persistent Cough in a Rare and Deadly Lung Disease
Targeting Huntington's Disease with Antisense
Assembling a Pipeline for Rare GI Disorders
Treating Huntington's Disease by Addressing Neuroinflammation
How Patient Advocate-Led Research Can Alter a Rare Disease Landscape
Keeping Clinical Trials Going During a Pandemic
Looking for Commonalities in Rare
Learning to Be Comfortable Being Uncomfortable
An Approach to De-Risk Rare Disease Drug Development
Targeting Epigenetics in Rare Proliferative Bone Marrow Cancers
Chiesi Charges Ahead in Rare Disease
Targeting the Metabolism of Rare Cancers
Unlocking Bryson's Brain
Living Therapies for Chronic Conditions
A One-to-Many Approach to Gene Therapy for Retinal Disease
Targeting an Immune Switch in Rare Diseases
Targeting the Regulatory Genome to Treat Rare Blood Diseases
A Reborn Forma Therapeutics Focuses on Rare Blood Diseases and Cancer
Targeting Genetic Diseases at Their Root Cause
Targeting Hormone Dysregulation in Prader-Willi Syndrome
Rare Disease Advocates Take to the Hill
Targeting a Common Link in Otherwise Different Rare Diseases
Bringing Clinical Trials to Patients
Crowdsourcing Therapeutic Approaches for an Ultra-Rare Disease
Delivering Oligonucleotide Therapies to Any Cell Type
Protalix Looks Beyond Biobetters
Driving N-of-1 Therapies for Ultra-Rare Disease Patients
Cutting the Time and Cost of Drug Discovery with MicroOrgans
Acquisition Combines Two Pipelines for Rare Skin Diseases
Programming Cells to Produce Neuroprotective Factors to Treat ALS
Origin's Rapid Path to Seek Approval for Treatment of Ultra-Rare Metabolic Condition
Developing a Common Language for Rare Diseases
Why Payers Lag Drug Developers and Regulators in Embracing Real-World Evidence
How a Brother's Love Is Forging a Path for Customized Therapies for Rare Disease Patients
Addressing the Barriers to Accessing Experimental Therapies
A Journey to Advocacy
Turning Chronic Illness into a Fashion Statement
Connecting Young Adults with Rare and Chronic Conditions
Helping Caregivers Care for Themselves
A Festival of Moving Pictures
Deep Genomics Boasts an AI First in Drug Discovery
How to Live with a Disability with Your Mojo Intact
Why a Big Pharma Exec Embraced Rare Neurological Diseases
Fighting for Other People's Children
A Doctor's Quest to Cure His Own Rare Disease
Susannah Cahalan and her Month of Madness
The Benefits Support Groups Offer Rare Disease Patients
Targeting the Epigenetic Drivers of Cancer
Tackling Kidney Diseases with Orally-Delivered Enzymes
Giving Voice to Patients through Data
Seeking to Halt and Reverse Fibrotic Diseases
Addressing the Complexities of Rare Disease with Centers of Excellence
Using Cell Therapies to Restore Power in Mitochondrial Diseases
Passage Bio Betting on Penn Connection to Give It an Edge in Developing Gene Therapies
Finding Appropriate Endpoints and Measures for Rare Eye Diseases
Marrying Antibodies and Oligonucleotides to Target Genetic Medicine
What Rare Disease Patients Should Understand about Genetics
Program Seeks to Drive Collaborative Research Model Among Rare Disease Groups
A Gene Hunter Becomes a Drug Hunter Too
The Psychological Toll Rare Diseases Can Have on Healthy Siblings
Blood Test Can Provide Earlier Diagnosis of Autism Spectrum Disorder
Understanding the Role of Natural History Studies in Clinical Trials
How Two Mothers Discovered That a Drug for One Rare Disorder Might Benefit Another
Shortening the Diagnostic Odyssey
Eliminating Barriers to Adoption of Children with Rare Diseases
A Young Rare Disease Advocate Discusses Life with an Undiagnosed Condition
The Benefits of an Open-Source Registry for Rare Diseases
How a Patient Group Helped Drive Drug Development in Rett Syndrome
How Misperceptions Can Create Barriers to Care
Targeting Repeat Expansion Disorders with Next-Gen Antisense Drugs
Getting Misfolding Proteins to Shape Up
A Different Approach to Inhibiting the Complement System
Looking Back in Time to Find Rare Disease Patients Today
Ionis CEO Stanley Crooke Discusses Success as a Platform Technology Company
Orchard Looks toward Harvesting Expanded Gene Therapy Pipeline
Connecting Rare Disease Patients in India and the United States
Regenerative Medicine Moves into the Spotlight
Learning New Tricks from Pathogenic Bacteria to Target the Microbiome
Orphan Drug Accelerator Spin-Out Tackles Rare Endocrine Disorders
Aspa Therapeutics Forges Gene Therapy for Rare Neurological Condition
How Patient-Led Collaborations Are Transforming Rare Disease Drug Discovery and Development
Sobi Expands Its Immunology Franchise with HLH Drug Approval
Learning to Thrive
Late-Stage Trial Underway for Treatment of Rare Obesity Disorder
RegenxBio Bets Its Gene Therapy Technology Provides Competitive Edge
The Potential for Digital Health Technologies to Transform Clinical Trials
Matching Volunteers to Rare Disease Organizations in Need
How One Rare Disease Organization Used Technology to Provide Greater Patient Insight to FDA
The Potentially Deadly Consequences of an Oversight in Newborn Screening Tests
Advancing a New Approach to Sickle Cell Disease
Conquering Life with a Rare Disease
Why Rare Disease Drug Developers Need Regular Interaction with the FDA
Making the Case for an FDA Rare Disease Center of Excellence
An Elite Runner Makes a Cross-Canada Trek for His Son and Rare Disease
How Rare Disease Advocates Can Get The Most out of Collaborations
Establishing Clinical Standards for a Rare Disease
Teen Rare Disease Advocate Fights the Condition That Took His Brother's Life
Addressing the Emotional Toll of Rare Diseases
Forging a Research Agenda for a Rare Disease
Living with an Uncertain Rare Diagnosis
A Rare Disease Advocate Teaches Doctors to See and Speak Differently
The Caregiver Who Cried in the Shower
Curating Patient Data to Accelerate Rare Disease Drug Development
Forging a Research Agenda for a Rare Disease
Making the Journey from All-American Athlete to Rare Disease Advocate
How Destiny Lamonte Learned to Advocate for Herself and Others
Where the NIH Does Its Banking
Making Sense of Nonsense Mutations
Rewriting Faulty RNA
Experimental Drug for "Elephant Man" Disease May Benefit Certain Cancers Too
Programming Stem Cells to Protect Neurons in ALS and other Neurodegenerative Conditions
Why a Topical, Off-the-Shelf, Gene Therapy May Hold Promise for a Rare Skin Condition
An Ironman Champion with Cystic Fibrosis Discusses her Changing Relationship with Her Disease
Why an Experimental Fragile X Drug May Treat a Range of Neurodegenerative Diseases
The Case for a Daily Self-Injection to Treat Hemophilia
Addressing the Challenges of R&D for Rare Cancer Therapies
Learning to Communicate and Collaborate as a Patient Advocate
Seeking Answers for Undiagnosed Patients
When "Undiagnosed" Is Your Diagnosis
The Decision to Get Tested for Huntington's Disease and How It Changed Seth Rotberg's Life
Nonprofit Sees Need in Developing Gene Therapies for Inherited Eye Disesases
Casting a Wider Net for Genetic Diseases
Corbus Seeks to Quiet the Immune System in Chronic Conditions
Addressing the Challenges of Rare Disease Drug Development
Giving Voice to Patients at the FDA
Finding a Rare Friend
Why a Sports Physical May Trigger a Doctor to Think About a Rare Diagnosis
UPenn's Orphan Disease Center Takes a Rare Approach
How Patients Can Accelerate Translational Research in Rare Disease
Notre Dame Center Leverages Commonalities of Rare and Neglected Diseases
GalXC Quest: Dicerna Bets on Its Unqiue Approach to RNAi
Pharnext Takes a Unique Twist on Repurposing Drugs for Rare Diseases
uniQure Seeks to Find Elusive Market Success with Hemophilia B Gene Therapy
Savara Advances Pipeline of Inhaled Therapeutics for Rare Lung Diseases
Why the Microbiome May Provide a Novel Approach to Treating Certain Rare Diseases
FDA Outlines a Collaborative Approach for Pediatric Rare Disease Trials
Why Patient-Centred Outcomes Are Critical to Rare Disease Drug Trials
What the FDA's New Framework Means for Regenerative Therapies
Measuring the Value of Therapies for Ultra-Rare Diseases
Lessons from Pitching Venture Capitalists
Health Canada Scraps Plans for Orphan Drug Framework
New Investment Boosts Rare Disease Drug Accelerator
Understanding Rare Disease Caregiver Needs
Deriving Rare Disease Therapies from Human Plasma
Learning to Live with Purpose
A Mother's Race to Find a Treatment for Her Daughter's Ultra-Rare Condition
Screening for Rare Diseases
A Look at the Changing World of Work for People with a Chronic Illness
Aligning Interests in Rare Disease Partnerships
A Veteran Venture Capitalist Discusses Investing in Rare Disease Drug Development
A Patient Group Crafts Guidelines for Working with Pharma
Bringing Innovation to Business Models for Rare Disease Drug Development
Rethinking Accessibility and Dependency
How Simon Wheatcroft, Blinded by a Rare Disease, Became an Ultramarathoner
Spark Hoping Its Luxturna Will Become First FDA-Approved Gene Therapy
What Rare Patient-Investors Can Learn From Venture Capitalists
Novel Effort Delivers Failed DMD Drug to Former Clinical Trial Participants
Centogene Seeks to Deliver Diagnoses to Rare Disease Patients Early
Albireo Advances Pipeline for Rare Liver and Gastrointestinal Diseases
aTyr Pharma Seeks to Modulate Activity in FSHD and Other Rare Disease
Summit Pursues A Different Approach to Treating Duchenne
Delivering Enzyme Replacement Therapies Across the Blood-Brain Barrier
Sangamo Advances Gene Editing Therapies for Multiple Rare Diseases into the Clinic
Navigating the Challenges of Rare Disease Drug Development
Accelerating Rare Disease Drug Discovery
Experimental Rare Disease Therapy Wins New FDA Reg Med Designation
How Rare Disease Patients Can Get their Voices Heard in Drug Discovery and Development
One Patient's Difficult Road to a Rare Diagnosis
How Researchers Diagnosed Four Patients with a Never-Before-Identified Rare Disease in a Day
Stem Cell Gene Therapy Restores Immune System in Kids with SCID
Rare Disease Advocates Push for Incentives to Drugmakers Pulled from Cures Act
Non-Profit Drug Company Seeks to Advance Rare Disease Therapies
Innovative Collaboration Model Drives Treatment for Rare Disease
Girl with Rare Disease Inspires Search for Bone Marrow Donors
A Quest for Tribe: Searching for Others with the Same Ultra-Rare Mutation
Raising Awareness in a Town with a History of a Rare Disease
Helping Rare Disease Patients Navigate the World of Information
Overcoming the Challenges of Rare Disease Drug Development
Moving Rare Disease Therapies from Hope to Reality
Children’s National Launches First-of-its-Kind Rare Disease Center
A Common Link in a Group of Rare Diseases Creates an Opportunity for Repurposing
Sobi Works to Expand Rare Disease Indications for Its Drugs
Why Rare Disease Patients Should Work Together to Address Common Concerns
Solving Medical Mysteries with the Wisdom of Crowds
Embracing Collaborations to Drive Development of Rare Disease Therapies
Determining If a Child's Neurologic or Psychiatric Symptoms are Caused by an Infection
Helping Patients with the Same Undiagnosed Genetic Condition Find Each Other
An Entrepreneur Uses a Silicon Valley Approach to Tackle Rare Disease
Looking for Love with a Rare Disease
Why Genomics May Be in Google's DNA
The Power of Small Grants to Make Big Impacts
Building an International Registry for Rare Diseases
Discovering the Creative Use of Outrage
Diagnosing Rare Diseases with Facial Analysis
Charles River Sees Opportunity in Fostering Rare Disease Collaborations
Abeona Advancing Pipeline of Gene Therapies for Rare Diseases
A Patient Attends "an Academic Conference for Everyone"
Teen Advocate Preaches Message of Kindness
A Controversial Approval for a Duchenne Drug and What's Ahead
Matchmaker Exchange Helps Rare Disease Community Find Me a Find
The Promise of RNAi for Hereditary Angioedema and Other Rare Diseases
Why Natural History Studies Matter to Rare Disease Patients
Harnessing Big Data to Work for Rare Disease Patients
Lessons from Autism on Accelerating Drug Development
How One Rare Disease Group Leverages Relationships with Industry
Ice Bucket Challenge Begins to Yield Results
Why a Common Diabetes Drug May Be Able to Treat a Rare Disease
How to Improve Patient Access to Experimental Drugs
Using Social Media to Find Rare Disease Patients for Clinical Trials
How Rare Disease Patients Weigh Risks and Benefits of a Therapy
Why Homology Medicines Might Be a Game Changer for Gene Therapy
Orchard Hopes to Bear the Fruit of Gene Therapy
Novel Approach to Treat Rare Disease May Lead to Drugs for Common Ones
Brining Whole Genome Sequencing into the Clinic
Bringing Patient-Centricity to Clinical Trials
Determining If a Child's Neurologic or Psychiatric Symptoms are Caused by an Infection
Making Genetic Data Accessible to Researchers
How New Sequencing Technology Is Changing Our Understanding of Rare Diseases
Marathon Readies DMD Drug for FDA
Searching for Genes They May Protect Against Deadly Diseases
Helping Patients with the Same Undiagnosed Genetic Condition Find Each Other
Living with a Disease in Search of a Name
New Means of Regulating Genes May Hold Promise for Rare Disease Patients
Invitae Seeks a Faster, Cheaper Path to Diagnosing Genetic Diseases
Filmmaker Turns Lens on the Rare Disease Community
The Case for Keeping Orphans Where They Can Thrive
Rare Disease Legislation Advancing at National, State Level
The Evolving Relationship Between Patient Advocates and Pharma
Phil Reilly on The Quest to Save Children with Rare Genetic Disorders
Unlocking the Genetic Mysteries of Rare Diseases
A Vision for Making Kansas City a Rare Disease Center of Excellence
A Push in Canada for a National Rare Disease Strategy
Jazzed in Utah for World Rare Disease Day
Group Aims to Accelerate Repurposing of Drugs to Treat Rare Diseases
Gene Therapies Bring New Hope to Rare Disease Patients
Why Rare Disease Research Should Matter to Everyone
Researchers Say Reform of the Orphan Drug Act is Needed
Looking for Love with a Rare Disease
Gene Editing Tool Holds Promise in Rare Disease Treatments
A Cross Country Quest for Marrow Donors
Building Strength by Sharing Stories
North Carolina Seeks Leadership Role in Combating Rare Diseases
The Power of Small Grants to Make Big Impacts
Tearing Down Differences with Film
Educating Docs to Improve Diagnosis and Treatment of Genetic Metabolic Diseases
Providing Young Adult Cancer Patients and Survivors Resources They Need
Gene Therapy Company Born from Mother's Quest to Cure Daughter
Accelerating Rare Disease Research through Collaboration
Cracking the Genetics of Rare Diseases through Crowdsourcing
Teen Advocate to World: "We are More than Our Diseases"
Why the 21st Century Cures Act May Be in Trouble in the Senate
How Lisa Bentley Became a World Class Triathlete with Cystic Fibrosis
Understanding the Rare Disease Caregiver
Addressing Life-Threatening Rare Diseases with Gene Therapy
Living with, Rather Than for, a Rare Disease
An Entrepreneur Uses a Silicon Valley Approach to Tackle Rare Disease
Chronicling the Genomic Revolution
How a Radio Personality Became a Rare Disease Advocate
Why Genomics May Be in Google's DNA
An FDA Perspective on Rare Diseases
Helping Patients Take Control of Their Healthcare
Living Life Beyond Limits
Noah Coughlan Completes His 3,000 Mile Trek for Rare Diseases
How the 21st Century Cures Act Puts Patients at the Table
Using Cell and Gene Therapies to Treat Rare Skin Diseases
Incentives Boost Innovation in Rare Disease Therapies
Tensions Brew Between Pharma and Patient Advocacy Groups
The Attraction of Being a Rare Disease Drug Company
Confronting Genetic Destiny in The Lion's Mouth Opens
Royal Pains Throws Spotlight on Rare Diseases
Making the Case Rare Diseases are Fundamental
Programming the Immune System to Produce Drugs
How One Everyday Superhero Combats Rare Disease
Terminally Ill Patients Find Hope in Utah's Right to Try Law
Discovering the Creative Use of Outrage
New Diagnostic Offers Fast Answers For Group of Rare Diseases
One Researcher's Effort to Address a Fundamental Challenge in Rare Disease Research
Turning Lights and Camera into Action: A Mom's Search for Answers
A Teenager's Transformation from Patient to Advocate
How the Orphan Drug Act Reshaped the Rare Disease Landscape
Why the OPEN ACT Could Greatly Expand Treatments for Rare Disease
Rare Disease Company Seeks 100 Drugs in 10 Years
A Run Across America to Raise Rare Disease Awareness
Tapping the Public to Keep Scientists Current on Rare Disease Research
Why Raising Awareness Matters in the Fight Against Rare Diseases
The First Lady's Date who Embodied Precision Medicine
Startup with NIH Deal Seeks to Speed Drugs for Rare Diseases
Expanding the Potential of Crowdfunding
A Father's Search to Cure His Son's Rare Disease
How Venture Philanthropy Can Accelerate Drug Development
How New Funding Models Are Accelerating Drug Development