by Peter Ciszewski | Apr 18, 2020
David Dale, MD at the University of Washington Medical Center in Seattle, discusses some of the challenges in diagnosing WHIM syndrome. Individuals with WHIM syndrome have severe congenital neutropenia. In addition, because they also have profound white blood cell...
by Peter Ciszewski | Apr 17, 2020
Priya Kishnani, MD of Duke University School of Medicine provides an update on the latest research in Pompe disease. Pompe disease is an inherited lysosomal storage disorder in which mutation in the GAA gene leads reduced levels of the GAA enzyme. The net...
by Peter Ciszewski | Apr 16, 2020
The U.S. Food and Drug Administration (FDA) has approved the orphan drug Jelmyto (mitomycin gel) treat low-grade upper tract urothelial cancer (UTUC). Low-grade UTUC affects about 6,000 – 8,000 Americans each year. It is a subset of urothelial cancers that begin in...
by Peter Ciszewski | Apr 15, 2020
Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to become fragile and to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching or from heat or adhesive tape. In severe cases, the...
by Peter Ciszewski | Apr 15, 2020
The U.S. Food and Drug Administration (FDA) has approved Koselugo (selumetinib) for the treatment of patients, 2 years of age and older, who have neurofibromatosis type 1 (NF1) with inoperable plexiform neurofibromas. NFI is a genetic disorder due to mutations in the...
