by Peter Ciszewski | Nov 15, 2017
Melissa P. Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore, New York City discusses 22q11.2 deletion syndrome, a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle...
by Peter Ciszewski | Nov 15, 2017
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.
by Peter Ciszewski | Nov 15, 2017
Emmy-Award Winning Actress Finola Hughes discusses what she has learned being an advocate for a group of rare, and under-recognized blood cancers called Myeloproliferative Neoplasms (MPNs). Finola Hughes is dedicated to increasing awareness for rare blood cancers,...
by Peter Ciszewski | Nov 13, 2017
Ellen Ritchie, MD, Associate Professor of Clinical Medicine, Weill Cornell Medical College, discusses the patients’ journey toward a diagnosis of Myeloproliferative Neoplasms (MPNs). MPNs are rare, chronic blood cancers. Chronic conditions last for a long period...
by Peter Ciszewski | Nov 13, 2017
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...
