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All Episodes

RARECast — 595 episodes

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Title
1

Raising Awareness of Clinical Trials

2

Using AI and Longitudinal Data to Transform Rare Disease Care

3

Cutting through the Diagnostic Maze for Rare Diseases

4

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

5

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

6

From Treating Symptoms to Addressing Causes in Rare Autoimmune Diseases

7

A Mother’s Journey to Rewrite a Neurodevelopmental Disorder

8

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

9

From Bloodletting to Breakthroughs in PV

10

When Endpoints Miss the Point

11

Reopening the Developmental Window in Rett Syndrome with a Gene Therapy

12

A Data Strategy to Capitalize on a Multi Trillion Dollar Opportunity

13

When a Gene Echoes Through a Family

14

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

15

Rewriting Rare Disease R&D with Foundation Models

16

Resetting Aberrant Tregs Epigenetically to Treat Autoimmune Diseases

17

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

18

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

19

Transforming TSC Epilepsy with a Precision Therapy

20

Bridging the Valley for Rare Disease Drug Development

21

Turning a Rare Cancer into a Call to Action

22

Developing a New Approach to Cystic Fibrosis to Improve Outcomes

23

Finding Strength in Weakness

24

Developing Targeted Therapies for a Rare Autoimmune Disease

25

A Venture Fund that Leverages Patient Experts to Target Autoimmune Diseases

26

Navigating Your Child’s Rare Disease

27

Changing a Treatment Landscape by De-Risking Drug Development

28

Transforming Real-World Patient Data into Breakthroughs

29

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

30

Learning to Be a Caregiver and Advocate

31

Improving Rare Disease Care through Partnerships

32

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

33

The Need to Look Beyond Seizures When Treating DEEs

34

Taking On Big Competitors with an Oral Therapy to Treat Achondroplasia

35

Going Viral to Fight Brain Cancer

36

Changing the Playbook on Childhood Cancers

37

Sometimes the Hoofbeats Do Belong to Zebras

38

Breathing Easier with a Breakthrough Immunotherapy

39

Using AI Open Innovation to Tackle ALS

40

Recovering What’s Lost in Translation

41

Targeting Hunger Rather than Appetite in Prader-Willi Syndrome

42

A Rare-to-Common Business Model

43

Leading a Rare Youth Movement

44

Developing Gene Therapies that Work Across Mutations

45

Eyeing A Challenge to a Blockbuster

46

Like Mother, Like Child

47

Transforming from Grandmother to Mother to Advocate

48

Overcoming a Delivery Challenge of Retinal Gene Therapies

49

A Gene Editing First Augurs an Era of Bespoke Therapies

50

How One Patient Organization Drives Drug Development

51

Using CRISPR to Modulate Gene Expression

52

Satisfying the Hunger for a Prader-Willi Therapy

53

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

54

Improving Outcomes for People with a Set of Rare Cancers

55

An Effort to Build a Better DMD Gene Therapy

56

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

57

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

58

Learning to Take His Vitamins

59

The First Treatment for a Rare Neurodegenerative Condition Awaits FDA Approval

60

Engineering Skin Bacteria to Be Live Biotherapeutics

61

Seeing the Gene and Cell Therapy Translational Divide as an Opportunity

62

My Mother, Myself, and ALS

63

From Immovable Object to Advocacy Force

64

A Rapid and Scalable Approach for Screening Personalized ASOs

65

Addressing the Disease Mechanism of a Rare Kidney Disease

66

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

67

A First for Rett Syndrome with More in the Pipeline

68

A Heart Attack that Led to a Rare Disease Diagnosis

69

Targeting Rare Liver Diseases with Gene Editing Therapies

70

Using AI to De-Risk Rare Disease Drug Development

71

Addressing a Growing Demand for Plasma-Derived Therapies

72

Empowering Patients with Data to Drive Drug Development

73

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

74

Engineering B Cells to Produce Therapeutic Proteins

75

A Pipeline Win as BridgeBio Learns to Balance Theory with Practice

76

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

77

Finding Strength

78

A Non-Profit Works to Advance a DMD Gene Therapy

79

Accepting What We Can’t Understand

80

A Gene Therapy Company Born from a Father’s Efforts to Save his Daughter

81

Lowering Barriers to Clinical Trial Participation with Do-It-Yourself Blood Sample Collection

82

Scaling N-of-1 Therapies to Viability

83

Building Gene Therapies that Address Gain and Loss of Function Simultaneously

84

How One Woman Climbed from Patient to Advocate

85

Shortening the Diagnostic Odyssey

86

Making Exomes More Revealing

87

How One Patient Organization Catalyzed Drug Development

88

Enabling On-Demand Therapies

89

After Driving an N-of-1 Therapy for Her Son, an Advocate Turns to Helping Others

90

Putting Rare Disease Organization in the Business of Drug Development

91

Understanding the Many Questions Gene Therapies Raise

92

A Test to Identify People Likely to Develop ALS

93

How an Ultra-Rare Disease Patient Foundation Advanced a Gene Therapy

94

Making the $10 Genome a Reality

95

A No-Nonsense Effort to Develop a Therapy that Works Across Genetic Diseases

96

Mapping a Perilous Journey with Humor

97

Restoring Vision in Inherited Retinal Disease

98

Bringing Genome Sequencing to Rural Populations

99

Addressing a Blind Spot in Treatments for the Cornea

100

Taking a Different Approach to Rare Epilepsies

101

A Rare Disease Drug Developer Tries to Earn Its Stripes

102

Using Plasma to Treat Rare Diseases

103

Differentiating Gene Therapies through Regulatory Elements

104

How One Patient Organization Leverages Research Investments

105

Charging into the Storm

106

A Gene Therapy Developer that Embraces Different Models for Reaching Patients

107

Using Directed Evolution to Develop New Vectors for Genetic Medicines

108

Addressing a Shortage of Genetic Counselors with AI

109

A Small Molecule Therapy to Regenerate Muscle in People with DMD

110

Forging a Faster Path for Gene Therapies

111

Determining the Value of Rare Disease Therapies

112

Buying and Building a Gene Therapy Presence

113

A Clinical Trial Failure Derails a Promising Technology

114

Helping People with Undiagnosed Rare Diseases Find Answers

115

Speeding and Scaling the Development of Genome Editing Therapies

116

Getting a Next-Generation Genome Editing Therapy for Sickle Cell Disease Back on Track

117

Trying to Break a Leg in a Wheelchair

118

A Drug Developer that Makes Pediatric Cancers a Priority

119

Harnessing the Body’s Natural RNA Machinery to Treat Diseases

120

Targeting the Leading Cause of Death in Friedreich’s Ataxia with a Gene Therapy

121

How Inhaled mRNA May Help Rare Disease Patients Breathe Easier

122

Changing What’s Possible with Cell and Gene Therapies

123

Why Flying with a Wheelchair Is a Civil Rights Issue

124

Mapping Spheres of Influence

125

Bringing Precision to the Treatment of Rare Cancers

126

The Challenges of Developing a Therapy for Pregnant Women with A Rare Condition

127

How One Drug Developer Is Addressing Health Inequities

128

Accelerating the Development of Genetic Medicines with AI

129

Leveraging AI to Address the Neuropsychiatric Conditions Associated with a Rare Disease

130

In Pursuit of a Treatment for His Son, A Lawyer Becomes a Biotech Executive

131

In Push for Treatment, a Patient Organization Becomes a Trial Sponsor

132

Delayed Diagnosis of Rare Diseases Takes Staggering Economic Toll

133

A Cell Therapy to Control Heart-Damaging Inflammation in Duchenne

134

Stimulating the Growth of Muscle Mass in People with Neuromuscular Diseases

135

Turning Grief into Action

136

A Plea to the FDA to Give an Ultra-Rare Disease Drug a Fair Hearing

137

How the Woolly Mammoth Beat a Path to Better Gene Therapies

138

A Genetic Counselor’s Journey into Patient Advocacy

139

A Company in the Fold of Rare Disease

140

Disabling Antibodies that Drive Rare, Immunological Conditions

141

Keeping the Sentinels of the Brain Vigilant

142

Considering the Unfinished Work in Cystic Fibrosis

143

How to Advocate for Yourself as You Battle Cancer

144

Targeting Neuroinflammation to Treat ALS

145

Leveraging Community Partnerships to Address a Rare Disease Behind a Medical Mystery in New Mexico

146

Accelerating Gene Editing Therapies for Rare, Neurological Conditions

147

Inhibiting Electrical Activity in Rare, Seizure Disorders

148

Improving the Function and Usability of Clothing for People with Disabilities

149

Treating Cardiopulmonary Disease with Inhaled Targeted Therapies

150

A Patient-Driven Registry Focused on Health-Related Quality of Life Data

151

An Ally for the Undiagnosed Emerges

152

Help for Rare Disease Patients That’s Just a Click Away

153

Diagnosing Autism with a Single Strand of Hair

154

Bringing Regenerative Medicine to a Rare Bone Condition in Children

155

Bringing Precision to CRISPR-Based Genome Editing

156

Capturing Patients’ Experience in Their Daily Lives

157

From One to Many

158

A Nasal Spray to Curb Excessive Eating in Prader-Willi

159

How One Foundation Is Laying the Groundwork to Advance Treatments for an Ultra-Rare Disease

160

Forging a New Path for Medicine

161

Restoring Hearing through Gene Therapies

162

Creating a Sustainable Reimbursement Model for Ultra-Rare Therapies

163

Lumos Hopes Its Oral Alternative to HGH Will Fuel Its Growth

164

Advancing a Gene Therapy for a Rare and Fatal CNS Disorder

165

Addressing the Barriers to Patient Participation in Clinical Trials

166

A Venture Philanthropist Makes the Case for Advocates Taking Equity

167

Seeking a Sustainable Business Developing on N-of-1 Therapies

168

How One Drugmaker Reaches out to Communities at Greater Risk for Rare Heart Condition

169

A Next-Generation RNA Therapy Targets Telomere Disorders

170

BridgeBio Advances Therapy for Limb-Girdle Muscular Dystrophy that Started with Two Patient Families

171

Translating Urgency into Science

172

Empowering Ultra-Rare Disease Patients to Pursue the Discovery of Treatments

173

Why a Topical Cannabidiol Gel May Help Treat the Behavioral Symptoms of Fragile X

174

An Ultra-Rare Disease Drug Developer Tries to Navigate Regulatory Uncertainty

175

Powering Cells in People with Rare Mitochondrial Diseases

176

Powering Weakened and Stressed Cells in ALS to Function Better with Nanocrystal Therapy

177

Developing a New Class of Therapies Based on a Natural Cargo Carrier

178

Reaching Beyond the Limits of Enzyme Replacement Therapies with Gene Therapies

179

One Woman’s Journey as a Caregiver to a Husband with Frontotemporal Dementia

180

Treating Rare Endocrine Disorders with Therapeutic Peptides

181

Tackling the Pricing Challenges for Advanced Therapies for Rare Diseases

182

Addressing the Current Limitations of AAV Gene Therapies

183

Examining the Legislative Landscape for Rare Disease Drug Development

184

How a Drug Setback Became a Patient Community’s Gain

185

Helping Regulators and Drug Developers Understand the Challenges of Living with Fabry Disease

186

Addressing Racial Disparities in a Rare Blood Cancer

187

How New Sequencing Technology Promises to Alter the Diagnostic Odyssey

188

Leveraging Technology to Empower Patients and Decentralize Clinical Trials

189

Equipping The Next-Generation Rare Disease Patient Advocate

190

How a Family Raced from Diagnosis to Experimental Gene Therapy in Three Years

191

How One Advocate Went from Losing His Hearing to Being Heard

192

Building a Pipeline of Therapies to Treat Rare Mineralization Disorders

193

Advancing an Oral Alternative to Infused and Injected Therapies for HAE

194

Embracing the Promise of Patient-Centered Biotechnology

195

Learning to Live with Loss

196

Using Cryptocurrency to Tap into the Wisdom of Crowds

197

A Therapy for a Rare Neurodegenerative Disease Moves Towards Regulatory Review

198

Transforming the Treatment of Neuromuscular Diseases with Next-Gen Oligonucleotides

199

Teaching the Immune System to Let Medicines Do Their Job

200

Designing Clinical Trials with the Patient in Mind

201

Keeping Clinical Trials Running Smoothly

202

A Vision for Patient-Centric Gene Therapy Development

203

Using Genetic Testing to Address Disparities in Care for Kidney Disease

204

Why Reforms to the Accelerated Approval Pathway Threaten Rare Disease Drug Development

205

A Longstanding Academic-Nonprofit Collaboration Gives Rise to an ALS Drug Company

206

Targeting Regulatory RNA to Upregulate Gene Expression to Treat Rare Diseases

207

Developing a New Approach to Treat Rare, Autoimmune Conditions

208

Bridging the Gap Between Basic and Commercial Research for Rare Disease

209

Stoking Functional Copies of Genes to Compensate for Mutated Ones

210

Targeting ALS with Synergistic Combinations of Therapies

211

How a Polish Rare Disease Organizations Is Helping Its Ukrainian Neighbors

212

Powering a New Era of Genetic Medicine

213

Searching for a Diagnosis

214

A Novel Way to Deliver Rare Disease Therapies

215

Bringing Diversity, Equity, and Inclusion to the Books We Read

216

From Mila to Millions: Scaling N of 1 Therapies

217

Genetically Modifying Patients’ Skin Cells to Treat Rare Diseases

218

Targeting Rare, Immunologic Disorders

219

Harnessing a Natural Mechanism to Silence Disease

220

Advancing Precision Medicine with Patient Data

221

Pregnancy and Motherhood for a Woman with SMA

222

Steps to Improve Data Gathering of Rare Diseases

223

Rare Patients Learn to Make Their Voices Heard

224

Empowering Patient Organizations with Real-World Data

225

A Healthcare Communications Student Gets an Education as a Patient

226

Expanding the CRISPR Toolkit

227

Marrying Antibodies to RNA Therapies to Target Previously Inaccessible Tissues and Cells

228

Expanding Access to Whole Genome Sequencing Across the Globe

229

A First-in-Class Approach to Treating a Rare and Chronic Liver Disease

230

A New Approach to Treating a Rare Endocrine Disorder

231

Detecting Genetic Disease Prior to Birth

232

Turning Words into Action: Equity, Diversity, and Inclusion in Rare Disease

233

Chasing Cures

234

A Map to Navigate A Rare Disease

235

A Popular Cancer Target Is Eyed for a Rare Immune Disorder

236

Leveraging a Gene Therapy Approach to Maximize Speed and Minimize Costs

237

Programing the Body to Make Its Own Medicine with Gene Therapy

238

Developing in Vivo Gene Editors that Target Liver Diseases

239

A Find-and-Replace Approach to Fixing the Mutation Underlying Sickle Cell Disease

240

A Bet on a Unique Set of Vectors

241

How a Rare Diagnosis Impacts a Family

242

Transforming the Rare Disease Landscape with Data

243

Creating a Playbook for Bespoke Gene Therapies

244

Finding Answers for Undiagnosed Patients with Rare Genetic Diseases

245

How a Familiar Face Can Lead to a Rare Disease Diagnosis

246

Bringing the Trial to the Patient

247

Targeting Rare and Chronic Kidney Diseases

248

Addressing the Delivery Challenges of Genetic Medicines

249

Targeting Tissues Throughout the Body with RNA Therapies

250

Delivering Rare Disease Therapies to Patients in Need

251

An Advocate's Journey through Diagnosis, Loss, and Hope

252

Using Model Systems to Find Drugs to Repurpose for Rare Diseases

253

How a Small and Young Foundation Catalyzed Research into a Rare Disease

254

Overcoming the Limitations of Conventional Cell Engineering

255

Experimental Therapy for Rare Endocrine Disorder Offers Hope of Improved Care

256

Forging Gene Therapy Capacity and a Pipeline at the Same Time

257

Using A Natural DNA Repair Process to Improve Genetic Medicines

258

Empowering Rare Disease Patients with their Own Health Records

259

Targeting CNS Disease with Gene Therapies

260

A New Therapy Offers A Different Approach to Inhibiting the Complement System

261

Bringing Aberrant Proteins Back into the Fold

262

A Cat who Curates Rare Mice

263

Putting the Patient at the Center of Rare Disease Clinical Trials

264

Creating a Toolkit to Accelerate the Development of Gene Editing Therapies

265

PTC Looks to Advanced Therapies

266

Going to Extreme Lengths

267

Everything’s up to Date in Kansas City, at Least When It Comes to Genomics

268

Choosing the Right Viral Vector for a Gene Therapy

269

A Software Platform to Give Patients the Tools to Build Treatments for Rare Genetic Diseases

270

Side Effects: The Toll a Rare Disease Can Take on a Family in Pursuit of a Cure

271

Realizing the Potential of CRISPR Gene Editing

272

Understanding the Economic Toll of Rare Disease in the United States

273

The Promise of Gene-Based Therapies for Neurodegenerative Conditions

274

Moving Beyond Viral Vectors for Gene Therapies

275

Acquisitions Help Jazz Build Toward Commercial Crescendo

276

Powerful Gene Editing Approach Offers the Promise of Correcting a Range of Rare Diseases

277

A Child's-Eye-View of Clinical Trials

278

Using Nanoliposomes to Make Cancer Therapies Safer and More Effective

279

Accelerating Treatments for Rare Disease through Data Sharing

280

Treating the Root Cause of Sickle Cell Disease

281

Targeting a Common Pathway in Genetic Forms of Obesity

282

After Pruning Orchard, Gaspar Focuses on High Value Opportunities

283

Writing a New Chapter of Genetic Medicine

284

How an Ultra-Rare Disease Patient Organization Drove Research to a Treatment

285

With a New Identity, Travere Thearpeutics Seeks to Find Its True Path

286

Making Gene Therapies Accessible to Patient with Ultra-Rare Conditions

287

Using RNA Therapies to Target Inherited Retinal Diseases

288

Part 4-Gene Therapy: A Researcher’s Perspective

289

Part 3-Gene Therapy: An Industry Perspective

290

Part 2-Gene Therapy: A Patient Advocate's Perspective

291

Part 1-Gene Therapy: A Genetic Counselor’s Perspective

292

An App to Make Patients the Experts in their Own Conditions

293

Pursuing a New Target for Autoimmune Diseases

294

Finding a Rare Friend

295

Industrializing Individual Therapies for People with Rare Conditions

296

Rare Disease Advocate Turned Filmmaker Turns Lens on his Son

297

Inhibiting Signaling that Drives Growth of Rare Malformations

298

Readying a Rare Disease Community for the Availability of Treatments

299

Forging a Rare Disease Research Agenda

300

Delivering Injectable Drugs Orally

301

What Young Adults with Rare Conditions Need to Know About Health Insurance

302

Mirum Prepares to Seek Approval for Rare Liver Disease Therapy

303

Payer Perceptions of Fairness in Pricing Rare Disease Therapies

304

Improving Narcolepsy Therapy with Drug Delivery Technology

305

Fighting the Persistent Cough in a Rare and Deadly Lung Disease

306

Targeting Huntington's Disease with Antisense

307

Assembling a Pipeline for Rare GI Disorders

308

Treating Huntington's Disease by Addressing Neuroinflammation

309

How Patient Advocate-Led Research Can Alter a Rare Disease Landscape

310

Keeping Clinical Trials Going During a Pandemic

311

Looking for Commonalities in Rare

312

Learning to Be Comfortable Being Uncomfortable

313

An Approach to De-Risk Rare Disease Drug Development

314

Targeting Epigenetics in Rare Proliferative Bone Marrow Cancers

315

Chiesi Charges Ahead in Rare Disease

316

Targeting the Metabolism of Rare Cancers

317

Unlocking Bryson's Brain

318

Living Therapies for Chronic Conditions

319

A One-to-Many Approach to Gene Therapy for Retinal Disease

320

Targeting an Immune Switch in Rare Diseases

321

Targeting the Regulatory Genome to Treat Rare Blood Diseases

322

A Reborn Forma Therapeutics Focuses on Rare Blood Diseases and Cancer

323

Targeting Genetic Diseases at Their Root Cause

324

Targeting Hormone Dysregulation in Prader-Willi Syndrome

325

Rare Disease Advocates Take to the Hill

326

Targeting a Common Link in Otherwise Different Rare Diseases

327

Bringing Clinical Trials to Patients

328

Crowdsourcing Therapeutic Approaches for an Ultra-Rare Disease

329

Delivering Oligonucleotide Therapies to Any Cell Type

330

Protalix Looks Beyond Biobetters

331

Driving N-of-1 Therapies for Ultra-Rare Disease Patients

332

Cutting the Time and Cost of Drug Discovery with MicroOrgans

333

Acquisition Combines Two Pipelines for Rare Skin Diseases

334

Programming Cells to Produce Neuroprotective Factors to Treat ALS

335

Origin's Rapid Path to Seek Approval for Treatment of Ultra-Rare Metabolic Condition

336

Developing a Common Language for Rare Diseases

337

Why Payers Lag Drug Developers and Regulators in Embracing Real-World Evidence

338

How a Brother's Love Is Forging a Path for Customized Therapies for Rare Disease Patients

339

Addressing the Barriers to Accessing Experimental Therapies

340

A Journey to Advocacy

341

Turning Chronic Illness into a Fashion Statement

342

Connecting Young Adults with Rare and Chronic Conditions

343

Helping Caregivers Care for Themselves

344

A Festival of Moving Pictures

345

Deep Genomics Boasts an AI First in Drug Discovery

346

How to Live with a Disability with Your Mojo Intact

347

Why a Big Pharma Exec Embraced Rare Neurological Diseases

348

Fighting for Other People's Children

349

A Doctor's Quest to Cure His Own Rare Disease

350

Susannah Cahalan and her Month of Madness

351

The Benefits Support Groups Offer Rare Disease Patients

352

Targeting the Epigenetic Drivers of Cancer

353

Tackling Kidney Diseases with Orally-Delivered Enzymes

354

Giving Voice to Patients through Data

355

Seeking to Halt and Reverse Fibrotic Diseases

356

Addressing the Complexities of Rare Disease with Centers of Excellence

357

Using Cell Therapies to Restore Power in Mitochondrial Diseases

358

Passage Bio Betting on Penn Connection to Give It an Edge in Developing Gene Therapies

359

Finding Appropriate Endpoints and Measures for Rare Eye Diseases

360

Marrying Antibodies and Oligonucleotides to Target Genetic Medicine

361

What Rare Disease Patients Should Understand about Genetics

362

Program Seeks to Drive Collaborative Research Model Among Rare Disease Groups

363

A Gene Hunter Becomes a Drug Hunter Too

364

The Psychological Toll Rare Diseases Can Have on Healthy Siblings

365

Blood Test Can Provide Earlier Diagnosis of Autism Spectrum Disorder

366

Understanding the Role of Natural History Studies in Clinical Trials

367

How Two Mothers Discovered That a Drug for One Rare Disorder Might Benefit Another

368

Shortening the Diagnostic Odyssey

369

Eliminating Barriers to Adoption of Children with Rare Diseases

370

A Young Rare Disease Advocate Discusses Life with an Undiagnosed Condition

371

The Benefits of an Open-Source Registry for Rare Diseases

372

How a Patient Group Helped Drive Drug Development in Rett Syndrome

373

How Misperceptions Can Create Barriers to Care

374

Targeting Repeat Expansion Disorders with Next-Gen Antisense Drugs

375

Getting Misfolding Proteins to Shape Up

376

A Different Approach to Inhibiting the Complement System

377

Looking Back in Time to Find Rare Disease Patients Today

378

Ionis CEO Stanley Crooke Discusses Success as a Platform Technology Company

379

Orchard Looks toward Harvesting Expanded Gene Therapy Pipeline

380

Connecting Rare Disease Patients in India and the United States

381

Regenerative Medicine Moves into the Spotlight

382

Learning New Tricks from Pathogenic Bacteria to Target the Microbiome

383

Orphan Drug Accelerator Spin-Out Tackles Rare Endocrine Disorders

384

Aspa Therapeutics Forges Gene Therapy for Rare Neurological Condition

385

How Patient-Led Collaborations Are Transforming Rare Disease Drug Discovery and Development

386

Sobi Expands Its Immunology Franchise with HLH Drug Approval

387

Learning to Thrive

388

Late-Stage Trial Underway for Treatment of Rare Obesity Disorder

389

RegenxBio Bets Its Gene Therapy Technology Provides Competitive Edge

390

The Potential for Digital Health Technologies to Transform Clinical Trials

391

Matching Volunteers to Rare Disease Organizations in Need

392

How One Rare Disease Organization Used Technology to Provide Greater Patient Insight to FDA

393

The Potentially Deadly Consequences of an Oversight in Newborn Screening Tests

394

Advancing a New Approach to Sickle Cell Disease

395

Conquering Life with a Rare Disease

396

Why Rare Disease Drug Developers Need Regular Interaction with the FDA

397

Making the Case for an FDA Rare Disease Center of Excellence

398

An Elite Runner Makes a Cross-Canada Trek for His Son and Rare Disease

399

How Rare Disease Advocates Can Get The Most out of Collaborations

400

Establishing Clinical Standards for a Rare Disease

401

Teen Rare Disease Advocate Fights the Condition That Took His Brother's Life

402

Addressing the Emotional Toll of Rare Diseases

403

Forging a Research Agenda for a Rare Disease

404

Living with an Uncertain Rare Diagnosis

405

A Rare Disease Advocate Teaches Doctors to See and Speak Differently

406

The Caregiver Who Cried in the Shower

407

Curating Patient Data to Accelerate Rare Disease Drug Development

408

Forging a Research Agenda for a Rare Disease

409

Making the Journey from All-American Athlete to Rare Disease Advocate

410

How Destiny Lamonte Learned to Advocate for Herself and Others

411

Where the NIH Does Its Banking

412

Making Sense of Nonsense Mutations

413

Rewriting Faulty RNA

414

Experimental Drug for "Elephant Man" Disease May Benefit Certain Cancers Too

415

Programming Stem Cells to Protect Neurons in ALS and other Neurodegenerative Conditions

416

Why a Topical, Off-the-Shelf, Gene Therapy May Hold Promise for a Rare Skin Condition

417

An Ironman Champion with Cystic Fibrosis Discusses her Changing Relationship with Her Disease

418

Why an Experimental Fragile X Drug May Treat a Range of Neurodegenerative Diseases

419

The Case for a Daily Self-Injection to Treat Hemophilia

420

Addressing the Challenges of R&D for Rare Cancer Therapies

421

Learning to Communicate and Collaborate as a Patient Advocate

422

Seeking Answers for Undiagnosed Patients

423

When "Undiagnosed" Is Your Diagnosis

424

The Decision to Get Tested for Huntington's Disease and How It Changed Seth Rotberg's Life

425

Nonprofit Sees Need in Developing Gene Therapies for Inherited Eye Disesases

426

Casting a Wider Net for Genetic Diseases

427

Corbus Seeks to Quiet the Immune System in Chronic Conditions

428

Addressing the Challenges of Rare Disease Drug Development

429

Giving Voice to Patients at the FDA

430

Finding a Rare Friend

431

Why a Sports Physical May Trigger a Doctor to Think About a Rare Diagnosis

432

UPenn's Orphan Disease Center Takes a Rare Approach

433

How Patients Can Accelerate Translational Research in Rare Disease

434

Notre Dame Center Leverages Commonalities of Rare and Neglected Diseases

435

GalXC Quest: Dicerna Bets on Its Unqiue Approach to RNAi

436

Pharnext Takes a Unique Twist on Repurposing Drugs for Rare Diseases

437

uniQure Seeks to Find Elusive Market Success with Hemophilia B Gene Therapy

438

Savara Advances Pipeline of Inhaled Therapeutics for Rare Lung Diseases

439

Why the Microbiome May Provide a Novel Approach to Treating Certain Rare Diseases

440

FDA Outlines a Collaborative Approach for Pediatric Rare Disease Trials

441

Why Patient-Centred Outcomes Are Critical to Rare Disease Drug Trials

442

What the FDA's New Framework Means for Regenerative Therapies

443

Measuring the Value of Therapies for Ultra-Rare Diseases

444

Lessons from Pitching Venture Capitalists

445

Health Canada Scraps Plans for Orphan Drug Framework

446

New Investment Boosts Rare Disease Drug Accelerator

447

Understanding Rare Disease Caregiver Needs

448

Deriving Rare Disease Therapies from Human Plasma

449

Learning to Live with Purpose

450

A Mother's Race to Find a Treatment for Her Daughter's Ultra-Rare Condition

451

Screening for Rare Diseases

452

A Look at the Changing World of Work for People with a Chronic Illness

453

Aligning Interests in Rare Disease Partnerships

454

A Veteran Venture Capitalist Discusses Investing in Rare Disease Drug Development

455

A Patient Group Crafts Guidelines for Working with Pharma

456

Bringing Innovation to Business Models for Rare Disease Drug Development

457

Rethinking Accessibility and Dependency

458

How Simon Wheatcroft, Blinded by a Rare Disease, Became an Ultramarathoner

459

Spark Hoping Its Luxturna Will Become First FDA-Approved Gene Therapy

460

What Rare Patient-Investors Can Learn From Venture Capitalists

461

Novel Effort Delivers Failed DMD Drug to Former Clinical Trial Participants

462

Centogene Seeks to Deliver Diagnoses to Rare Disease Patients Early

463

Albireo Advances Pipeline for Rare Liver and Gastrointestinal Diseases

464

aTyr Pharma Seeks to Modulate Activity in FSHD and Other Rare Disease

465

Summit Pursues A Different Approach to Treating Duchenne

466

Delivering Enzyme Replacement Therapies Across the Blood-Brain Barrier

467

Sangamo Advances Gene Editing Therapies for Multiple Rare Diseases into the Clinic

468

Navigating the Challenges of Rare Disease Drug Development

469

Accelerating Rare Disease Drug Discovery

470

Experimental Rare Disease Therapy Wins New FDA Reg Med Designation

471

How Rare Disease Patients Can Get their Voices Heard in Drug Discovery and Development

472

One Patient's Difficult Road to a Rare Diagnosis

473

How Researchers Diagnosed Four Patients with a Never-Before-Identified Rare Disease in a Day

474

Stem Cell Gene Therapy Restores Immune System in Kids with SCID

475

Rare Disease Advocates Push for Incentives to Drugmakers Pulled from Cures Act

476

Non-Profit Drug Company Seeks to Advance Rare Disease Therapies

477

Innovative Collaboration Model Drives Treatment for Rare Disease

478

Girl with Rare Disease Inspires Search for Bone Marrow Donors

479

A Quest for Tribe: Searching for Others with the Same Ultra-Rare Mutation

480

Raising Awareness in a Town with a History of a Rare Disease

481

Helping Rare Disease Patients Navigate the World of Information

482

Overcoming the Challenges of Rare Disease Drug Development

483

Moving Rare Disease Therapies from Hope to Reality

484

Children’s National Launches First-of-its-Kind Rare Disease Center

485

A Common Link in a Group of Rare Diseases Creates an Opportunity for Repurposing

486

Sobi Works to Expand Rare Disease Indications for Its Drugs

487

Why Rare Disease Patients Should Work Together to Address Common Concerns

488

Solving Medical Mysteries with the Wisdom of Crowds

489

Embracing Collaborations to Drive Development of Rare Disease Therapies

490

Determining If a Child's Neurologic or Psychiatric Symptoms are Caused by an Infection

491

Helping Patients with the Same Undiagnosed Genetic Condition Find Each Other

492

An Entrepreneur Uses a Silicon Valley Approach to Tackle Rare Disease

493

Looking for Love with a Rare Disease

494

Why Genomics May Be in Google's DNA

495

The Power of Small Grants to Make Big Impacts

496

Building an International Registry for Rare Diseases

497

Discovering the Creative Use of Outrage

498

Diagnosing Rare Diseases with Facial Analysis

499

Charles River Sees Opportunity in Fostering Rare Disease Collaborations

500

Abeona Advancing Pipeline of Gene Therapies for Rare Diseases

501

A Patient Attends "an Academic Conference for Everyone"

502

Teen Advocate Preaches Message of Kindness

503

A Controversial Approval for a Duchenne Drug and What's Ahead

504

Matchmaker Exchange Helps Rare Disease Community Find Me a Find

505

The Promise of RNAi for Hereditary Angioedema and Other Rare Diseases

506

Why Natural History Studies Matter to Rare Disease Patients

507

Harnessing Big Data to Work for Rare Disease Patients

508

Lessons from Autism on Accelerating Drug Development

509

How One Rare Disease Group Leverages Relationships with Industry

510

Ice Bucket Challenge Begins to Yield Results

511

Why a Common Diabetes Drug May Be Able to Treat a Rare Disease

512

How to Improve Patient Access to Experimental Drugs

513

Using Social Media to Find Rare Disease Patients for Clinical Trials

514

How Rare Disease Patients Weigh Risks and Benefits of a Therapy

515

Why Homology Medicines Might Be a Game Changer for Gene Therapy

516

Orchard Hopes to Bear the Fruit of Gene Therapy

517

Novel Approach to Treat Rare Disease May Lead to Drugs for Common Ones

518

Brining Whole Genome Sequencing into the Clinic

519

Bringing Patient-Centricity to Clinical Trials

520

Determining If a Child's Neurologic or Psychiatric Symptoms are Caused by an Infection

521

Making Genetic Data Accessible to Researchers

522

How New Sequencing Technology Is Changing Our Understanding of Rare Diseases

523

Marathon Readies DMD Drug for FDA

524

Searching for Genes They May Protect Against Deadly Diseases

525

Helping Patients with the Same Undiagnosed Genetic Condition Find Each Other

526

Living with a Disease in Search of a Name

527

New Means of Regulating Genes May Hold Promise for Rare Disease Patients

528

Invitae Seeks a Faster, Cheaper Path to Diagnosing Genetic Diseases

529

Filmmaker Turns Lens on the Rare Disease Community

530

The Case for Keeping Orphans Where They Can Thrive

531

Rare Disease Legislation Advancing at National, State Level

532

The Evolving Relationship Between Patient Advocates and Pharma

533

Phil Reilly on The Quest to Save Children with Rare Genetic Disorders

534

Unlocking the Genetic Mysteries of Rare Diseases

535

A Vision for Making Kansas City a Rare Disease Center of Excellence

536

A Push in Canada for a National Rare Disease Strategy

537

Jazzed in Utah for World Rare Disease Day

538

Group Aims to Accelerate Repurposing of Drugs to Treat Rare Diseases

539

Gene Therapies Bring New Hope to Rare Disease Patients

540

Why Rare Disease Research Should Matter to Everyone

541

Researchers Say Reform of the Orphan Drug Act is Needed

542

Looking for Love with a Rare Disease

543

Gene Editing Tool Holds Promise in Rare Disease Treatments

544

A Cross Country Quest for Marrow Donors

545

Building Strength by Sharing Stories

546

North Carolina Seeks Leadership Role in Combating Rare Diseases

547

The Power of Small Grants to Make Big Impacts

548

Tearing Down Differences with Film

549

Educating Docs to Improve Diagnosis and Treatment of Genetic Metabolic Diseases

550

Providing Young Adult Cancer Patients and Survivors Resources They Need

551

Gene Therapy Company Born from Mother's Quest to Cure Daughter

552

Accelerating Rare Disease Research through Collaboration

553

Cracking the Genetics of Rare Diseases through Crowdsourcing

554

Teen Advocate to World: "We are More than Our Diseases"

555

Why the 21st Century Cures Act May Be in Trouble in the Senate

556

How Lisa Bentley Became a World Class Triathlete with Cystic Fibrosis

557

Understanding the Rare Disease Caregiver

558

Addressing Life-Threatening Rare Diseases with Gene Therapy

559

Living with, Rather Than for, a Rare Disease

560

An Entrepreneur Uses a Silicon Valley Approach to Tackle Rare Disease

561

Chronicling the Genomic Revolution

562

How a Radio Personality Became a Rare Disease Advocate

563

Why Genomics May Be in Google's DNA

564

An FDA Perspective on Rare Diseases

565

Helping Patients Take Control of Their Healthcare

566

Living Life Beyond Limits

567

Noah Coughlan Completes His 3,000 Mile Trek for Rare Diseases

568

How the 21st Century Cures Act Puts Patients at the Table

569

Using Cell and Gene Therapies to Treat Rare Skin Diseases

570

Incentives Boost Innovation in Rare Disease Therapies

571

Tensions Brew Between Pharma and Patient Advocacy Groups

572

The Attraction of Being a Rare Disease Drug Company

573

Confronting Genetic Destiny in The Lion's Mouth Opens

574

Royal Pains Throws Spotlight on Rare Diseases

575

Making the Case Rare Diseases are Fundamental

576

Programming the Immune System to Produce Drugs

577

How One Everyday Superhero Combats Rare Disease

578

Terminally Ill Patients Find Hope in Utah's Right to Try Law

579

Discovering the Creative Use of Outrage

580

New Diagnostic Offers Fast Answers For Group of Rare Diseases

581

One Researcher's Effort to Address a Fundamental Challenge in Rare Disease Research

582

Turning Lights and Camera into Action: A Mom's Search for Answers

583

A Teenager's Transformation from Patient to Advocate

584

How the Orphan Drug Act Reshaped the Rare Disease Landscape

585

Why the OPEN ACT Could Greatly Expand Treatments for Rare Disease

586

Rare Disease Company Seeks 100 Drugs in 10 Years

587

A Run Across America to Raise Rare Disease Awareness

588

Tapping the Public to Keep Scientists Current on Rare Disease Research

589

Why Raising Awareness Matters in the Fight Against Rare Diseases

590

The First Lady's Date who Embodied Precision Medicine

591

Startup with NIH Deal Seeks to Speed Drugs for Rare Diseases

592

Expanding the Potential of Crowdfunding

593

A Father's Search to Cure His Son's Rare Disease

594

How Venture Philanthropy Can Accelerate Drug Development

595

How New Funding Models Are Accelerating Drug Development