by Peter Ciszewski | Feb 17, 2020
Heather Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, provides an overview of how to manage a person with Gaucher disease during the current COVID-19 pandemic. Gaucher disease is a genetic disorder in which glucocerebroside accumulates in...
by Peter Ciszewski | Feb 17, 2020
John Mitchell, MD, pediatric endocrinologist at Montreal Children’s Hospital and McGill University explains the pathophysiology, symptoms, and treatment options for Farber disease. Farber disease is a rare lysosomal disorder due to mutations of the ASAH1 gene....
by Peter Ciszewski | Feb 14, 2020
John Crowley, CEO and Chairman at Amicus Therapeutics, talks about the growth of WORLDSymposium over the past 16 years. WORLDSymposium is the only conference focused solely on lysosomal diseases. Initially starting out with about 75 people in attendance, this...
by Peter Ciszewski | Feb 14, 2020
Barbara Burton, MD of Lurie Children’s Hospital of Chicago discusses the latest results from the Morquio A Registry Study (MARS). The registry data shows that persons with Morquio syndrome type A who are taking enzyme replacement therapy (ERT) experience...
by Peter Ciszewski | Feb 13, 2020
Dwight Koeberl, MD, PhD, of Duke University School of Medicine provides an update on the phase 1 study of gene therapy to treat late-onset Pompe disease. As Dr. Koeberl explains in this video, the preliminary results in the low-dose cohort show the gene therapy...
