by Craig McCabe and James Radke, PhD | May 8, 2023
Gerard Vockley, MD, PhD, Professor of Pediatrics and Human Genetics at the University of Pittsburgh, provides an overview of galactosemia. Galactosemia is a rare, metabolic disorder that affects an individual’s ability to metabolize galactose, which is...
by Madaline Spencer | May 5, 2023
Dean Suhr, of the MLD Foundation, provides an overview of the latest clinical milestones in diagnosing and treating metachromatic leukodystrophy (MLD). MLD is a lysosomal disorder due to a deficiency in the enzyme arylsulfatase A (ARSA). It is characterized by...
by CheckRare Staff | May 4, 2023
Aimee Donald, MBChB, PhD, Pediatrician at Royal Manchester Children’s Hospital, and Professor at the University of Manchester, discusses the PROCEED and PROVIDE gene therapy trials testing PR001 in Gaucher disease patients. Gaucher disease arises from...
by Peter Ciszewski | May 3, 2023
Aimee Donald, MBChB, PhD, Pediatrician at Royal Manchester Children’s Hospital, and Professor at the University of Manchester, discusses Gaucher disease type 2. Gaucher disease is a rare lysosomal disorder due to reduced levels of glucocerebrosidase that...
by James Radke, PhD | May 2, 2023
Jordi Diaz-Manera, MD, PhD, Professor of Neuromuscular Diseases at Newcastle University discusses the latest results from an ongoing phase1/2 clinical trial testing gene therapy for late-onset Pompe disease. Pompe disease is a lysosomal disorder due to...
