by Peter Ciszewski | Apr 30, 2019
The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to LB-001, a recombinant adeno-associated viral vector with human methylmalonyl-COA mutase (MUT) gene for the treatment of methylmalonic acidemia (MMA). Methylmalonic acidemia is an...
by Peter Ciszewski | Apr 30, 2019
Heather A. Lau, MD, Assistant Professor, Department of Neurology; Associate Director, Division of Neurogenetics; Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses some of the treatment options for individuals with...
by Peter Ciszewski | Apr 30, 2019
Kristen Wheeden, Director of Development for the American Porphyria Foundation, provides an overview of her foundation and this rare disease. The American Porphyria Foundation is dedicated to the health and well-being of patient and families impacted by...
by Peter Ciszewski | Apr 29, 2019
Mark Pykett, PhD, Chief Scientific Officer at PTC Therapeutics, discusses the importance of genetic testing in rare diseases.
by Peter Ciszewski | Apr 26, 2019
Anne R. Pariser, MD, Director of the Office of Rare Diseases Research, National Center for Advancing Translational Sciences at the NIH provides an overview of the Office of Rare Diseases Research at the NIH. The National Center for Advancing Translational...
