News

Live Science on MSN1d
The rare genetic condition that triggers uncontrollable movements and self-injury
Affected populations: Lesch-Nyhan syndrome is an incredibly rare genetic disorder that causes metabolic changes and mainly ...
Medscape9h
Rare Acromegaly Case Reveals Genetic Link and Cardiac Issues
A young man’s undiagnosed acromegaly leads to severe cardiac complications, highlighting the genetic links and diagnostic ...
Eddie Vedder’s quest to help cure a rare disease subject of new documentary
Matter of Time,” a documentary featuring legendary rocker Eddie Vedder premiering this fall at the Tribeca Film Festival, is ...
Dexerto on MSN3d
‘Ligma’ could become a recognized medical condition thanks to one man’s rare disease
A man with a rare genetic condition wants to name his disorder ‘Ligma’ after being approached by the National Institute of Health.
BioPharma Dive2d
Startup Glycomine raises $115M to push rare disease drug deeper into testing
The biotech is developing an experimental drug for the most common of a family of disorders all caused by errors in ...
The Next Generation of Genetic Testing: Sentynl Therapeutics Explains Why Screening Newborns for Rare Disease Matters
With 80% of rare diseases having a genetic cause, getting a head start on genetic testing for infants can be the key to an ...
Baylor College of Medicine3h
Rare variants in GPKOW associated with multisystemic X-linked developmental disorder
A new study published in Genetics in Medicine identifies a novel disease-associated gene, GPKOW, that plays an important role ...
Florida Politics1d
House OKs boost for pediatric rare disease research
The measure ( HB 907 ), sponsored by Republican Rep. Adam Anderson, is dubbed the Sunshine Genetics Act. It would establish ...
Genetics of hemophilia: Why mutations matter more than ever in diagnosis and treatment
Hemophilia, a rare inherited bleeding disorder, is primarily caused by mutations in specific genes that impair the body’s ...