Farber Disease Natural History Study

  John Mitchell, MD, pediatric endocrinologist at Montreal Children’s Hospital and McGill University, explains the need for a natural history study involving Farber disease. Farber disease is a lysosomal disorder due to mutations of the ASAH1 gene that leads to...

WHIM Syndrome: Etiology and Diagnosis

  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...

FDA Grants Orphan Drug Status to Possible Covid-19 Treatment

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...

WHIM Syndrome Clinical Trials

  Sarah Cohen, MD, Medical Director Rare Diseases, X4 Pharmaceuticals, discusses WHIM syndrome and clinical trials. WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. However, due to the...

How Amicus Therapeutics Decides Which Gene Therapy to Focus On

  John Crowley, CEO and Chairman at Amicus Therapeutics, describes how his company decides which rare diseases to focus their drug development program towards. At present, the have numerous gene therapies, including ones to treat Batten disease, Fabry disease,...
  • Sign up
Lost your password? Please enter your username or email address. You will receive a link to create a new password via email.
We do not share your personal details with anyone.