News/Experts

  • Treating Myeloproliferative Neoplasms (MPNs)
  • Ellen Ritchie, MD, Associate Professor of Clinical Medicine, Weill Cornell Medical College, discusses the challenges of treating Myeloproliferative Neoplasms (MPNs). MPNs are rare, chronic b …

  • Hereditary Xerocytosis Overview
  • Lara Sullivan, MD, President and Founder at SpringWorks Therapeutics discusses Hereditary Xerocytosis, a genetic disorder in which red blood cells become dehydrated due to loss of potassium …

  • Diagnosing X-Linked Retinoschisis (XLRS)
  • David G. Birch, PhD, Chief Scientific and Executive Officer and Director of the Rose-Silverthorne Retinal Degenerations Laboratory, Retina Foundation of the Southwest discusses how Optometri …

  • Challenges of Diagnosing Rare Diseases
  • Melissa P. Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore, New York City discusses the challenges of diagnosing rare diseases. She uses Krabbe …

  • Krabbe Disease
  • Melissa P. Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore, New York City discusses Krabbe disease (also called globoid cell leukodystrophy), a …

  • Patients Living Longer With DMD Pose New Challenge for Caregivers
  • Diagnostic and treatment advances are helping patients with Duchenne muscular dystrophy — one of nine major types of muscular dystrophy that affects males — live into their 30s and beyond, …

  • Therapy for Duchenne Muscular Dystrophy, Approved for Phase 2 Trial
  • A Phase 2 clinical trial of ATL1102, Antisense Therapeutics’ investigational therapy for Duchenne muscular dystrophy (DMD), recently received authorization to proceed from the Royal Children …

  • DMD Trial of Dystrophin Gene Therapy SGT-001 Put on Clinical Hold by FDA
  • Solid Biosciences announced that the U.S. Food and Drug Administration placed a clinical hold on a Phase 1/2 trial testing SGT-001, a dystrophin gene therapy intended to treat Duchenne muscu …

  • Pulmonary Arterial Hypertension (PAH): Emerging Treatment Options
  • https://www.youtube.com/watch?v=95X29hpC9wU Roxana Sulica, MD, Associate Professor, Department of Medicine and Director, Pulmonary Hypertension at NYU Langone in New York City discusses some …

  • Rare Disease Advocacy Groups
  • Sam Falsetti, PhD of Cambridge Biomarketing discusses the role of rare disease advocacy groups.