What Are Leukodystrophies?

  Adeline Vanderver, MD, Program Director of the Leukodystrophy Center in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP), Professor of Neurology and Pediatrics, Perelman School of Medicine of the University of Pennsylvania, and Jacob A....

What Is Congenital Ichthyosis?

Alan M. Mendelsohn, MD, Chief Medical Officer at Timber Pharmaceuticals, provides an overview of congenital ichthyosis.     As Dr. Mendelsohn explains, congenital ichthyosis is a rare genetic skin disorder. It is characterized by dry, thickened, and scaling...

Podcast: PIK3CA-Related Overgrowth Syndrome (PROS)

  Guillaume Canaud, MD, PhD, of Necker-Enfants Malades Hospital – AP-HP, the Paris Descartes University, provides an overview of PiK3CA-related overgrowth syndrome (PROS) and explains why it is important to regularly measure objective outcomes in persons with...