Diagnosing WHIM Syndrome

  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...

AvroBio’s Gene Therapy Focus

  Geoff MacKay, president and CEO of Avrobio, described the company’s history and philosophy for developing ex vivo gene therapies for various diseases, such as Pompe disease, Fabry disease, Gaucher disease, and cystinosis. As Mackay explains in this video, the...

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...

Fulcrum Therapeutics

  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)...

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...

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,...
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