by James Radke, PhD and Craig McCabe | Apr 10, 2023
MSD is a rare genetic disease due to mutations in the SUMF1 gene. It is an autosomal recessive disorder, so both parents must be carriers and pass it on to their child. SUMF1 is involved in the development of formylglycine-generating enzyme (FGE) and absence of...
by Craig McCabe | Mar 23, 2023
Ankit Mehta, MD, Nephrologist and Program Director for the Department of Internal Medicine at Baylor University Medical Center, discusses signs and symptoms of Fabry disease. As Dr. Mehta explains, Fabry disease is a rare X-linked lysosomal...
by Craig McCabe | Mar 13, 2023
Ankit Mehta, MD, Nephrologist and Program Director for the Department of Internal Medicine at Baylor University Medical Center, discusses female patients with Fabry disease. Fabry disease is a rare X-linked lysosomal storage disorder resulting in...
by Craig McCabe | Mar 10, 2023
Kyle Wood, MD, Associate Professor of Urology, University of Alabama at Birmingham, gives an overview of enteric hyperoxaluria. Dr. Wood explains that excessive absorption of dietary oxalate characterizes enteric hyperoxaluria. Roux-en-Y gastric bypass...
by Craig McCabe | Mar 7, 2023
Ronald Martell, President, and CEO of Jasper Therapeutics, gives an overview of Fanconi anemia. As Mr. Martell explains, Fanconi anemia is a rare blood disorder that is often associated with a progressive deficiency of all bone marrow production of blood...