by CheckRare Staff | May 2, 2022
Matthew Ellinwood, DMV, PhD, Chief Scientific Officer at the MPS Society, explains why it is important that most mucopolysaccharidoses (MPSs) be diagnosed early. The MPSs are a group of inherited lysosomal storage diseases caused by the absence or...
by CheckRare Staff | Apr 28, 2022
Parents of two young patients with Type 1 galactosemia tell stories of their children’s diagnoses, and their own experience with classic galactosemia. A 28-year-old patient with classic galactosemia offers his thoughts on living with the disorder and how he meets...
by CheckRare Staff | Apr 27, 2022
Marc C. Patterson, MD, Professor of Neurology, Pediatrics, and Medical Genetics, and Chair of the Division of Child and Adolescent Neurology, at the Mayo Clinic in Rochester, MN, gives an overview of Niemann-Pick disease type C (NPC). As Dr. Patterson explains, NPC...
by CheckRare Staff | Apr 15, 2022
David Weinstein, MD, Senior Vice President of Clinical Development at Passage Bio, discusses why the company’s investigational gene therapy (PBGM01) is being administered through the cisterna magna. GM1 gangliosidosis is an inherited lysosomal storage disorder...
by CheckRare Staff | Apr 14, 2022
Terence R. Flotte, MD, Provost and Executive Deputy Chancellor of the University of Massachusetts Medical School, gives an overview of Tay-Sachs disease. As Dr. Flotte explains, Tay-Sachs disease (GM2 Gangliosidosis) is a rare neurodegenerative disease caused...
