by Peter Ciszewski | Aug 31, 2020
Tanya Collin-Histed of the International Gaucher Alliance discusses the important roles that patient groups can play in helping patients with lysosomal storage diseases (such as Gaucher disease) manage their condition during the COVID-19 pandemic. This...
by Peter Ciszewski | Aug 31, 2020
Francesca Carubbi, MD, PhD, of the University of Modena and Reggio Emilia, Italy discusses the impact the COVID-19 pandemic has had on lysosomal storage and rare disorders in Italy. This presentation was part the live GRIDS 2020-Virtual Summit held July 1, 2020 and is...
by Peter Ciszewski | Aug 28, 2020
Stormy Chamberlain, PhD, from the University of Connecticut’s Graduate Program in Genetics and Developmental Biology, provides an overview of Angelman syndrome and describes the diagnostic journey for many patients suffering from this rare disorder. Angelman...
by Peter Ciszewski | Aug 26, 2020
Wendy Chung, MD, PhD, clinical geneticist at Columbia University Medical School explains what inspires her and many clinical researchers focused on rare disease – patient groups. As Dr. Chung explains in this video, patients, their families, and patient groups...
by Peter Ciszewski | Aug 21, 2020
Ralf Rosskamp, MD, Chief Medical Director at Dicerna Pharmaceuticals provides an overview of primary hyperoxaluria — a family of rare disorders characterized by recurrent kidney and bladder stones — and what physicians should look for to diagnose...
