by CheckRare Staff | Jun 10, 2022
Ann Barbier, MD, PhD, Chief Medical Officer at CAMP4 Therapeutics, discusses CAMP4’s investigational RNA-based therapy for Dravet syndrome, CMP-SCN (CO-3527). Dravet syndrome is a rare neurological condition that usually appears during the first year of life as...
by CheckRare Staff | May 17, 2022
John Jefferies, MD, of the University of Tennessee Health Science Center, discusses the importance of determining the etiology of left ventricular hypertrophy (LVH) to determine if it is a genetic problem (such as Fabry disease). Fabry disease is a rare...
by CheckRare Staff | May 11, 2022
Dalia Moawad, MD, Executive Director, Head of Neurological Rare Diseases, Medical Affairs at Genentech, discusses 3-year data from the FIREFISH study of risdiplam (Evrysdi) in infants with spinal muscular atrophy (SMA) type 1. SMA is a rare inherited...
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...
