by Peter Ciszewski | Feb 22, 2022
Dawn Laney, MS, CGC, CCRC, Assistant Professor, and Director of Emory Genetic Clinical Trials Center, describes a pilot study to determine if patients at risk for any of 10 lysosomal storage diseases can be identified from de-identified electronic medical...
by Peter Ciszewski | Feb 21, 2022
Brahm Goldstein, MD, Global Therapeutic Area Head of Hematology and Thrombosis at CSL Behring, gives an overview of hemophilia B. As Dr. Goldstein explains, hemophilia B is a congenital bleeding disorder due to dysfunction or deficiency of coagulation Factor IX...
by Peter Ciszewski | Feb 21, 2022
Raymond Wang, MD, Metabolic Specialist and Director of the Multidisciplinary Lysosomal Storage Disorder Program at Children’s Hospital of Orange County, gives an overview of the treatment landscape for mucopolysaccharidosis type I (MPS I). MPS I is an...
by Peter Ciszewski | Feb 18, 2022
Kathie Bishop, PhD, Chief Scientific Officer at Acadia Pharmaceuticals, provides an overview of Rett syndrome. As Dr. Bishop explains, Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have...
by Peter Ciszewski | Feb 17, 2022
Caroline Hastings, MD, Hematologist-Oncologist and Neuro-Oncologist from the UCSF Benioff Children’s Hospital, explains why finding a treatment for Niemann-Pick Disease Type C (NPC) has been difficult. NPC is a disabling neurogenetic disorder that has...
