by Peter Ciszewski | Aug 13, 2020
The U.S. Food and Drug Administration (FDA) has approved Viltepso (viltolarsen) to treat persons with Duchenne muscular dystrophy (DMD) who have a confirmed mutation of the DMD gene that is amenable to exon 53 skipping. This is the second drug now available for this...
by Peter Ciszewski | Aug 12, 2020
Wendy Chung, MD, PhD, Clinical Geneticist at Columbia University Medical School, talks about KIF1a, a rare progressive neurological disorder due to a mutation in the KIF1A gene. KIF1a, also referred to as KIF1A associated neurological disorder (KAND), is not...
by Peter Ciszewski | Aug 10, 2020
Margarita Ivanova, PhD, from the Lysosomal & Rare Disorders Research & Treatment Center (LDRTC), provides an overview the autophagy and endo-lysosomal pathways and their implications in SARS-CoV-2 infections. This presentation was part the live GRIDS...
by Peter Ciszewski | Aug 7, 2020
Ari Zimran, MD from the Shaare Zedek Medical Center in Israel discusses the impact the COVID-19 pandemic has had on treating patients with lysosomal storage disorders that require enzyme replacement therapies. This presentation was part the live GRIDS...
by Peter Ciszewski | Aug 7, 2020
Timothy Craig, FAAAAI, FACP, FACOI, Professor of Medicine and Pediatrics and Graduate Studies, Penn State University, discusses the need for clinicians to be better informed about the latest developments in caring for patients with hereditary angioedema (HAE). ...
