Rare and Genetic Disease Network
Melissa Wasserstein, MD, from the Children’s Hospital at Montefiore, talks about Acid Sphingomyelinase Deficiency (ASMD), also known as Niemann-Pick Diseases type A or type B.
David Dale, MD at the University of Washington Medical Center in Seattle, discusses some of the challenges in diagnosing WHIM syndrome.
Geoff MacKay, CEO of Avrobio, described the company’s history and philosophy for developing ex vivo gene therapies.
The U.S. Food and Drug Administration (FDA) has approved Sevenfact [coagulation factor VIIa (recombinant)-jncw] to treat and control of bleeding episodes that occur in persons 12 years of age and older with hemophilia A or B with inhibitors (neutralizing antibodies)....
CheckRare Rare Disease Journal Watch: Covid-19, Sjögren’s syndrome, SMA, and more
John Mitchell, MD, pediatric endocrinologist at Montreal Children’s Hospital and McGill University explains the need for a natural history study involving Farber disease.
Hereditary angioedema (HAE) is a rare genetic disease that has gone through a revolution in the past decade with numerous medications now available to treat people with HAE. Unfortunately, identifying those people remains a challenge for those unfamiliar with the...
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.
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...
The U.S. Food and Drug Administration (FDA) has granted an Orphan Drug Designation to remdesivir to treat persons with Covid-19.
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.
David Kronn, MD, Associate Professor of Pediatrics at New York Medical College, provides an overview of Pompe disease.