News/Experts

  • Gorlin Syndrome Overview
  • Jean Tang, MD, PhD is co-founder of PellePharm and serves on the PellePharm board of directors. She is a practicing dermatologist and associate professor of dermatology at Stanford Universit …

  • 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 …

  • Pulmonary Arterial Hypertension (PAH): Emerging Treatment Options
  • Roxana Sulica, MD, Associate Professor, Department of Medicine and Director, Pulmonary Hypertension at NYU Langone in New York City discusses some of the emerging tretment options for pulmon …

  • Challenges of Diagnosing Patients with 22q11.2 Deletion Syndrome
  • Bernice Morrow, PhD, Director of Translational Genetics, Albert Einstein College of Medicine, discusses some of the challenges of diagnosing patients with 22q11.2 deletion syndrome, a disord …

  • Choroideremia Overview
  • Cory MacDonald, Operations Manager, Choroideremia Research Foundation, discusses choroideremia, his advocacy organization, and the various clinical trials for this rare eye disorder. Cory Ma …

  • 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 …

  • 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, …