by Peter Ciszewski | Apr 30, 2020
Ozlem Goker-Alpan, MD, founder of the Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) in Fairfax, VA provides an overview of Fabry disease. Fabry disease an X-linked genetic disorder that leads to the buildup of globotriaosylceramide in...
by Peter Ciszewski | Apr 29, 2020
Cystic fibrosis (CF) is a genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas. Signs and symptoms may include salty-tasting skin; persistent coughing; frequent lung infections; wheezing or shortness of...
by Peter Ciszewski | Apr 29, 2020
Neil Weinreb, MD, FACP provides a summary of research presented at WORLDSymposium 2020 focused on gene therapy to potentially treat Gaucher disease. Gaucher disease is a rare lysosomal storage disorder in which glucocerebroside accumulates in cells and certain...
by Peter Ciszewski | Apr 28, 2020
Eunice Wang, MD, Chief of the Leukemia Service at Roswell Park Comprehensive Cancer Center, talks about the need for cancer patients, like those with acute myeloid leukemia (AML), keep to their regular appointments and treatment schedules during the current...
by Peter Ciszewski | Apr 25, 2020
Mathews Adera, MD, Vice President, Neurodevelopment at Ovid Therapeutics discusses some signs and symptoms of Angelman syndrome and the difficulty of diagnosing this rare disorder. Angelman syndrome is a rare genetic disorder affecting roughly 500,000 people...
