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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 ...
What is Angelman syndrome? The rare genetic condition affecting Colin Farrell’s son
What is Angelman syndrome? The rare genetic condition affecting Colin Farrell’s son - Angelman syndrome is a rare genetic ...
Rare syndrome can cause compulsive eating and abnormal weight gain as study uncovers treatment hope
Some other common signs of BBS include polydactyly, the presence of extra fingers or toes. Intellectual disabilities, ...
Scarlett's Mini Golf Gala benefits Woodbridge child with rare genetic disorder
McCormac’s nonprofit Woodbridge Community Fund, Scarlett’s Mini Golf Gala will feature mini golf, a buffet dinner, open bar ...
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 ...
Medscape2d
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 ...
BioPharma Dive4d
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 ...
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 Politics4d
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 ...
The Independent1d
What is Angelman syndrome? The rare genetic condition affecting Colin Farrell’s son
Angelman syndrome is a rare genetic condition that affects the nervous system and causes severe physical and learning disabilities, according to the NHS. It is diagnosed through genetic testing to ...