by CheckRare Staff | Jun 7, 2023
Brittany Cudzilo, Vice President of the Galactosemia Foundation, and parent of two children with galactosemia, describes this rare condition and the impact it has had on their family. Galactosemia is a rare, genetic, metabolic disorder that affects an...
by Craig McCabe | Jun 6, 2023
Jack Johnson, Executive Director of the Fabry Support and Information Group (FSIG) discusses the many research advances being made in Fabry disease. Fabry disease is a rare, X-linked lysosomal storage disorder. It is caused by the deficiency of the enzyme...
by Craig McCabe and James Radke, PhD | Jun 5, 2023
Rakesh Jain, MD, MPH, Professor, Department of Psychiatry, Texas Tech University School of Medicine – Permian Basin, discusses the recent Huntington’s disease treatment approval. Newly approved deutetrabenazine (Austedo XR) extended-release tablets...
by Craig McCabe and James Radke, PhD | Jun 1, 2023
Jack Johnson, of the Fabry Support and Information Group (FSIG) talks about the different types of pain often associated with Fabry disease. Fabry disease is a rare, X-linked lysosomal storage disorder that is caused by the deficiency of the enzyme...
by Madaline Spencer | May 31, 2023
Sitra Tauscher-Wisniewski, MD, Vice President of Clinical Development & Analytics at Novartis Gene Therapies, discusses long-term data for onasemnogene abeparvovec (Zolgensma), an FDA-approved gene therapy for spinal muscular atrophy (SMA). SMA is a...
