by Peter Ciszewski | Mar 27, 2020
Diego Cadavid, MD, of Fulcrum Therapeutics explains the philosophy of the company and how they are developing therapies to stop certain mutated genes from overproducing certain proteins. One such therapy is losmapimod, a mitogen-activated protein kinase (MAPK)...
by Peter Ciszewski | Mar 26, 2020
Philip M. Murphy, MD, Chief, Molecular Signaling Section, Laboratory of Molecular Immunology; Chief, Laboratory of Molecular Immunology, National Institute of Allergy and Infection, discusses the etiology and diagnosis of WHIM syndrome, a rare immunodeficiency...
by Peter Ciszewski | Mar 25, 2020
The U.S. Food and Drug Administration (FDA) has granted an Orphan Drug Designation to remdesivir to treat persons with Covid-19. Remdesivir is an antiviral agent currently in development by Gilead Sciences. The drug is not approved to treat patients with Covid-19 but...
by Peter Ciszewski | Mar 24, 2020
Petra Oliva, PhD of Archimed Life Science explains the value of testing for both Gaucher disease and Neimann-Pick disease in persons suspected of having one of those rare conditions. Gaucher disease is a rare lysosomal storage disorder due to a deficiency in...
by Peter Ciszewski | Mar 23, 2020
David Kronn, MD, Associate Professor of Pediatrics at New York Medical College, provides an overview of Pompe disease. Pompe disease is a lysosomal disorder that leads reduced levels of acid alpha-glucosidase (GAA). The net result is a buildup of glycogen in...
