by CheckRare Staff | Oct 9, 2023
Annie Kennedy, Chief of Policy, Advocacy, and Patient Engagement for EveryLife Foundation for Rare Diseases, describes a new study showing the economic issues correlated with a delayed diagnosis of a rare disease. Transcription: Hi. I’m Annie Kennedy. I’m...
by CheckRare Staff | Oct 8, 2023
Gustavo A. Heresi, MD, MS, Director of the Pulmonary Vascular and Chronic Thromboembolic Pulmonary Hypertension Program in the Department of Pulmonary and Critical Care Medicine in the Respiratory Institute at Cleveland Clinic discusses the challenges of...
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...
