by CheckRare Staff | Nov 23, 2023
Pam Vig, PhD, Head of Research and Development at Mirum Pharmaceuticals, highlights some of the clinical data on progressive familial intrahepatic cholestasis (PFIC) and Alagille syndrome presented at the North American Society For Pediatric Gastroenterology,...
by CheckRare Staff | Nov 22, 2023
Eric Crombez, MD, Chief Medical Officer of Ultragenyx, talks about treating and diagnosing osteogenesis imperfecta patients. Transcription: Patients definitely can have a very different path to diagnosis. This disease does have a spectrum of...
by CheckRare Staff | Nov 21, 2023
IND Application Approved For DM1 Treatment The FDA has approved the investigational new drug (IND) application, initiating the FREEDOM-DM1 Phase 1 study of PGN-EDODM1 in DM1 patients in the U.S. What is DM1? Myotonic dystrophy type 1 (AKA Steinert’s Disease) is a...
by CheckRare Staff | Nov 20, 2023
Christine Eng, MD, Chief Medical Officer at Baylor Genetics discusses the diagnostic lab and her involvement in the organization. Transcription: My name is Christine Eng. I am a pediatrician and a medical geneticist. I’ve been in this field for...
by CheckRare Staff | Nov 17, 2023
Rick Hawkins, Chief Executive Officer at Lumos Pharma, discusses treating pediatric growth hormone deficiency (PGHD). Transcription: Most of the patients with pediatric growth hormone deficiency or PGHD, have a moderate form of the disease. They...
