Overview of Achondroplasia (Short-Limbed Dwarfism)

  Luca Santarelli, MD of Therachon discusses achondroplasia, an autosomal dominant disorder characterized by dwarfism and disproportionate shortness of limbs, accompanied by life-altering complications. Achondroplasia is caused by a gene alteration (mutation) in...

Caregiver Action Network

  Editor’s Note: This interview was conducted at #Bio2018. Please pardon the background noise. John Schall is Chief Executive Officer of Caregiver Action Network (CAN) and in this video he discusses the mission of the CAN and the many valuable resources his...

Hunter Syndrome (MPS Type II) Overview

  Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome. This condition affects many different parts of the body and occurs almost...