by CheckRare Staff | Oct 4, 2023
Steve Hughes, MD, chief medical officer at Avidity Biosciences, explains the mechanism of action for AOC 1044 as a Duchenne muscular dystrophy (DMD) treatment. DMD is a rare genetic disorder due to mutations in the Dystrophin gene, which encodes the...
by CheckRare Staff | Oct 3, 2023
Mary P. McGowan, MD, chief medical officer of the Family Heart Foundation provides an overview of the CASCADE registry focused on patients with homozygous familial hypercholesterolemia (HoFH). HoFH is a rare genetic disorder that results in severe...
by CheckRare Staff | Oct 2, 2023
Shoshana Shendelman, PhD, President and Chief Executive Officer of Applied Therapeutics, provides an overview of sorbitol dehydrogenase (SORD) deficiency. SORD Deficiency is a rare genetic disorder that affects the body’s ability to metabolize...
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...
