Raredr

Genetic

Diagnosing Mild Forms of Gaucher Disease
David Kuter, MD of Massachusetts General Hospital talks about the global Gaucher earlier diagnosis consensus (GED-C) initiative that is being developed to help clinicians diagnose many of the Gaucher disease patients that may not be getting properly diagnosed because their symptoms are not as severe.
The developer of the drug—Seattle Genetics—stated that 6 patients have been identified with hepatotoxicity and 4 of them have died.
Maureen Seaberg is a tetrachromat - she sees things the rest of us can't
Among the many rare disease advocates who were instrumental in getting the 21st Century Cures Act passed was Max Schill who has made many trips to Washington to educate Congressional and Senate offices about the bill.
A new study in the Annals of Clinical and Translational Neurology suggests that the rare disease CADASIL may not be rare.
Congressman Fred Upton, who led to charge to get 21st Century Cures Act passed, delivered this weekly address about the bill that recently passed the House and Senate.
According to Jenkins, he has been thinking about leaving the FDA since 2015 but has stayed on to make sure that a person was in place to assume his responsibilities.
A new study published in the New England Journal of Medicine questions the ability of whole genome sequencing to be the best means to diagnose patients.
Frank Leebeek, MD, PhD of Erasmus MC talked to us at the 58th Annual ASH Meeting & Exposition about the data he presented showing the significant clinical breakthrough they are making with gene therapy to treat hemophilia B. \
Video highlights from the Rare Diseases Heroes Event in Arlington, VA.
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