by Peter Ciszewski | Apr 8, 2018
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....
by Peter Ciszewski | Apr 8, 2018
Douglas Paul, PharmD, PhD discusses the Orphan Drug Act and the issue of whether Pharma and Biotech companies are “gaming the system,” when bringing drugs or devices before the FDA. The FDA Office of Orphan Products Development (OOPD) aims to advance the...
by Peter Ciszewski | Apr 7, 2018
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...
by Peter Ciszewski | Apr 6, 2018
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...
by Peter Ciszewski | Apr 6, 2018
Annette Bakker, PhD, President and Chief Scientific Officer of the Children’s Tumor Foundation (CTF), discusses the many ongoing clinical trials for Neurofibromatosis. Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people worldwide. It is a condition...
