Living with Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named for the three physicians who first identified it in 1886 – Jean-Martin Charcot and...

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 degenerative disorder that affects the nervous system.

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)....

Pulmonary Arterial Hypertension Overview

Roxana Sulica, MD, Associate Professor, Department of Medicine and Director, Pulmonary Hypertension at NYU Langone in New York City discusses Pulmonary arterial hypertension (PAH), a progressive condition that affects the heart and lungs. PAH is characterized by...

Emerging Treatments for Gorlin Syndrome and Basal Cell Carcinomas

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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