by Peter Ciszewski | Feb 18, 2021
Dustin Armstrong, PhD, president of Parasail, LLC, talks about the drug, VAL-1221, for the treatment of Pompe disease. Pompe disease is a lysosomal disorder that leads to reduced levels of acid alpha-glucosidase (GAA), which in turn leads to a buildup of...
by Peter Ciszewski | Feb 18, 2021
Michael Levy, MD, PhD, Associate Neurologist at Massachusetts General Hospital, provides an overview of Neuromyelitis Optica Spectrum Disorder (NMOSD). NMOSD is an autoimmune disease often characterized by sporadic and repeated inflammatory flare ups that can...
by Peter Ciszewski | Feb 17, 2021
Stephanie Cherqui, PhD, from the University of California, San Diego, talks about the latest data testing hematopoietic stem cell gene therapy as a treatment for cystinosis. Cystinosis is a rare lysosomal storage disorder characterized by the accumulation of...
by James Radke | Feb 17, 2021
Eric Wallace, MD, University of Alabama at Birmingham (UAB) Medical Director of Telehealth, Director of the UAB Home Dialysis Program, and co-director of the UAB Fabry Disease Clinic, discusses the advantages of gene panels to diagnose rare genetic conditions,...
by Peter Ciszewski | Feb 16, 2021
Morie Gertz, MD, Professor of Medicine at the Mayo Clinic is a specialist in diagnosing and treating amyloid transthyretin (ATTR) amyloidosis. One of the biggest challenges with this rare condition is getting a quick diagnosis. Many clinicians who see these...
