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 blood cancers. Chronic conditions last for a long period of time and may never...

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 Optometrists and Ophthalmologists typically diagnose X-linked retinoschisis (XLRS)....

Treatment Options for Myeloproliferative Neoplasms

Ellen Ritchie, MD, Associate Professor of Clinical Medicine, Weill Cornell Medical College, discusses the available treatment options for Myeloproliferative Neoplasms (MPNs). MPNs are rare, chronic blood cancers. Chronic conditions last for a long period of time and...

Diagnosing Achondroplasia (Short-Limbed Dwarfism)

Luca Santarelli, MD of Therachon discusses diagnosing Achondroplasia. Therachon’s lead pipeline candidate, TA-46, a novel protein therapy in development for achondroplasia, the most common form of short-limbed dwarfism. Achondroplasia is an autosomal dominant...

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 disease, Nieman-Pick disease, and 22q11.2 deletion syndrome as examples....

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 University. In this video, Dr. Tang discusses Gorlin Syndrome, a rare, genetic, disease...
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