Genome Sequencing Solves Rare Disease Mysteries

Clinical genome sequencing now delivers genetic diagnoses for about 1 in 4 suspected rare disease patients, guiding targeted ...
TED on MSN

Why rare diseases affect far more people than we think

A mysterious genetic disease wiped out generations of one family before science uncovered its cause. This talk reveals how a ...
News-Medical.Net

New RNA sequencing method improves rare disease diagnosis

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...
Hosted on MSN

Rare behind-the-scenes facts from lost ‘Star Trek’ movies and shows

Between the 1969 cancellation of The Original Series and the 1979 release of Star Trek: The Motion Picture, Star Trek’s “lost years” stayed busy. Ratings rose in syndication, fan fiction grew, and ...
Wall Street Journal

AstraZeneca Confident Rare-Disease Drug Can Hit Target After Mixed Study Results

AstraZeneca AZN1.72%increase; green up pointing triangle reported mixed results from three late-stage clinical trials of an experimental treatment for a rare metabolic disease, but remains confident ...
News Medical

Whole genome sequencing improves diagnosis of rare diseases

A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at ...
CNBC

Every Cure’s drug repurposing strategy isn't what you think, and it could change rare disease treatment

Every Cure is using AI to seek new uses for the roughly 4,000 existing drugs, and cutting traditional preliminary research timelines from as much as 100 days to as little as 17 hours. Treatment for a ...
CNBC

Dr. Scott Gottlieb: FDA's rare disease framework is 'a very good start'

Dr. Scott Gottlieb: FDA’s rare disease framework is ‘a very good start’ Former FDA Commissioner Dr. Scott Gottlieb joins “Squawk Box’ to discuss the FDA’s new framework for accelerating the ...
People

High School Athlete Dies of Rare Disease After ‘Weeks In and Out of the Hospital’

The family of 17-year-old Waseh Sultani said he “courageously battled” a rare disease called hemophagocytic lymphohistiocytosis GoFundMe Waseh Sultani, 17, was recently diagnosed with a rare immune ...
FiercePharma

FDA approves Denali's Hunter syndrome drug, handing rare disease community a win

The FDA has approved Denali Therapeutics’ enzyme replacement therapy for a genetic lysosomal storage disease after a string of high-profile rejections for rare disease candidates. In approving ...