by Peter Ciszewski | Aug 13, 2020
Howard Rutman, MD from Daiichi Sankyo talks about the typical symptoms of tenosynovial giant cell tumors (TGCT). TGCT are a group of rare, benign tumors that involve the synovium, bursae and/or tendon sheath that can lead to symptoms of pain, swelling, and limitation...
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...
