Ellen Ritchie, MD, Associate Professor of Clinical Medicine, Weill Cornell Medical College, discusses the challenges of diagnosing Myeloproliferative Neoplasms (MPNs). MPNs are rare, chronic blood cancers. Chronic conditions last for a long period of time and may never go away. MPNs can be classified based on the presence or absence …

Melissa P. Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore, New York City discusses three rare diseases that she sees at her clinic: Neimann Pick Disease, Krabbe Disease, and Chromosome 22q11.2 deletion syndrome (often referred to as 22Q). Dr. Wasserstein is an NIH-funded clinical researcher …

Len Walt, Vice President, Head of Medical Affairs, Sobi in North America, provides an overview of Still’s disease, a rare inflammatory disorder that affects the entire body, and how these patients typically present to their physicians. Still’s disease is characterized by high spiking fevers, salmon-colored rash that comes and goes, …

Douglas Paul, PharmD, PhD discusses some of the myths surrounding the Orphan Drug Act, especially that Pharma and Biotech companies are gaming the system. These myths, Dr. Paul believes, could have long-term negative effects on Rare Disease drug development.

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 X-Linked Retinoschisis (XLRS) is diagnosed. X-linked retinoschisis (XLRS) is an inherited early onset retinal degenerative disease caused by mutations in the RS1 gene. It is the …

Len Walt, Vice President, Head of Medical Affairs, Sobi in North America, discusses neonatal onset multisystem inflammatory disease (NOMID), a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder. People with NOMID …