by Peter Ciszewski | Mar 19, 2020
Sarah Cohen, MD, Medical Director Rare Diseases, X4 Pharmaceuticals, discusses WHIM syndrome and clinical trials. WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. However, due to the...
by Peter Ciszewski | Mar 18, 2020
John Crowley, CEO and Chairman at Amicus Therapeutics, describes how his company decides which rare diseases to focus their drug development program towards. At present, the have numerous gene therapies, including ones to treat Batten disease, Fabry disease,...
by Peter Ciszewski | Mar 17, 2020
Ruth-Anne Langan Pai of the Castleman Disease Collaborative Network (CDCN) provides an overview of what CDCN is doing for its patient and research community. Castleman disease is a group of rare disorders characterized by lymph node enlargement, specific...
by Peter Ciszewski | Mar 16, 2020
Dwight Koeberl, MD, PhD of Duke University School of Medicine provides an overview of Pompe disease. Pompe disease is a rare lysosomal storage disorder in which mutation in the GAA gene results in a reduction the levels of the GAA enzyme. That leads to a...
by Peter Ciszewski | Mar 13, 2020
As the news about COVID-19 continues to dominate everyone’s lives, it is important for those in the medical and rare disease communities to focus on reliable and scientific accurate information. This can be problematic given the high level of people outside the...
