by CheckRare Staff | Oct 1, 2023
Gaucher disease (GD) is a rare, autosomal recessive lysosomal storage disorder, in which deficiency of the enzyme glucocerebrosidase leads to the accumulation of its substrate glucocerebroside throughout the body, primarily in the spleen, liver, and bone marrow. The...
by CheckRare Staff | Sep 21, 2023
Hideki Garren, MD, PHD, Chief Medical Officer at Prothena discusses the clinical data supporting the use of birtamimab to treat AL amyloidosis. AL amyloidosis is a rare blood disorder associated with the overproduction of amyloid. This leads to the...
by CheckRare Staff | Sep 20, 2023
Mona Al Mukaddam, MD, Associate Professor of Clinical Medicine and Orthopaedic Surgery at Penn Medicine, describes treatment options for persons with fibrodysplasia ossificans progressiva (FOP). New bone formation outside of the normal skeletal system...
by CheckRare Staff | Sep 19, 2023
Shoshana Shendelman, PhD, President and Chief Executive Officer of Applied Therapeutics, explains the urgency of finding newer treatment options for galactosemia patients. Galactosemia is a rare, metabolic disorder that affects an individual’s...
by CheckRare Staff | Sep 18, 2023
Mary McGowan, MD, chief medical officer of the Family Heart Foundation explains when it is recommended that children be screened with a lipid profile. T The American Academy of Pediatrics and the National Heart, Lung, and Blood Institute of the NIH...
