by CheckRare Staff | Nov 28, 2023
Christine Eng, MD, Chief Medical Officer at Baylor Genetics, discusses whole genome sequencing and other forms of genetic testing in diagnosing rare diseases. Transcription: All of the testing that we do really is designed to address unmet patient...
by CheckRare Staff | Nov 27, 2023
Eric Crombez, MD, Chief Medical Officer of Ultragenyx, discusses the latest results from the Phase 2/3 Orbit Study targeting osteogenesis imperfecta. Transcription: Orbit is the name we have given to our ongoing phase 2/3 study. We have been talking...
by CheckRare Staff | Nov 24, 2023
Rick Hawkins, Chief Executive Officer at Lumos Pharma, discusses the OraGrowth212 Clinical Trial testing LUM-201 (ibutamoren) to treat pediatric growth hormone deficiency (PGHD). Transcription: We have a global trial up and running. There are 80...
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...
