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...

Being Diagnosed 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...

Pulmonary Alveolar Proteinosis (PAP) Overview

Rob Neville of Savara Pharmaceuticals discusses Pulmonary Alveolar Proteinosis (PAP) is a rare lung disease, which affects approximately 7 persons in a million people. It is characterised by the build-up of grainy material in the air sacs (alveoli) in the lungs. The...

Thijs Spoor of AzurRx Provides an Overview of Cystic Fibrosis

Thijs Spoor of AzurRx Provides an Overview of Cystic Fibrosis Cystic fibrosis (CF) is a life-threatening genetic disease that primarily affects the lungs and digestive system. An estimated 30,000 children and adults in the United States (70,000 worldwide) have CF. In...

The Importance of Advocacy Groups Such as the Fragile X Foundation

Dr. Daniel Alkon of Neurotrope BioSciences discusses the importance of partnering with Advocacy Groups such as the Fragile X Foundation for company. Neurotrope has reached out to advocacy groups for their clinical trial strategy for Bryostatin 1 for the treatment of...
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