by Madaline Spencer | Mar 13, 2026
Amy Shapiro, MD, a pediatric hematologist and the Medical Director and CEO of the Indiana Hemophilia and Thrombosis Center in Indianapolis, provides CheckRare an overview on type 1 plasminogen deficiency (PLGD-1). « Prev1 / 1Next »Type 1 Plasminogen...
by Madaline Spencer and Joe Haddad | Mar 13, 2026
Kristin McKay, President and Executive Director of Project Alive, discusses the real-world perspective on daily challenges of living with mucopolysaccharides II (MPS II). MPS II is an inherited disorder of carbohydrate metabolism that occurs almost exclusively...
by Madaline Spencer | Mar 12, 2026
The US Food and Drug Administration (FDA) has accepted DF-003 into the FDA Rare Disease Evidence Principles Process (RDEP) for the potential treatment of ROSAH syndrome. ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome is a...
by Madaline Spencer and James Radke, PhD | Mar 12, 2026
Brian Bigger, PhD, Professor of Advanced Therapeutics at the University of Edinburgh, discusses the first-in-human experience of autologous hematopoietic stem cell gene therapy (HSCGT) using a novel ex-vivo lentiviral (LV) platform to correct mucopolysaccharidosis II...
by Madaline Spencer and James Radke, PhD | Mar 11, 2026
Dawn Laney, MS, Genetic Counselor at Emory University School of Medicine, discusses the challenges and unmet needs of female patients with Fabry disease. Fabry disease is a type of lysosomal storage disease characterized by deficient alpha-galactosidase...
