Only four people in Australia have been diagnosed with rare genetic disease CHOPS
Isla Steed is your fairly typical teenager, according to her mum. The 14-year-old is “a stubborn little person”…
Pacific Northwest Research Institute Publishes Key Advances in Rare and Genetic Disease Research Amid National Funding Uncertainty
SEATTLE, Oct. 1, 2025 /PRNewswire/ —Â Despite a year marked by funding freezes, delays, and growing uncertainty about federal…
Daughter Found Out She Has A Serious Hereditary Illness, But When She Learned Her Parents Hid It For Years, She Called Them Selfish And Went Low Contact » TwistedSifter
Pexels/Redidt Finding out you’ve inherited a life-changing illness is devastating enough, but realizing the people who should have…
Ionis gets approval for preventing attacks in rare and genetic HAE
In Ionis Pharmaceuticals Inc.’s second U.S. FDA approval in under a year, the agency approved Dawnzera (donidalorsen) as…
New Chinese Gene-Editing Tools Promise Advances in Medicine, Agriculture
(Yicai) Aug. 7 — Chinese researchers have developed two advanced DNA editing tools that could lead to breakthroughs…
Novel Human Genetics Evidence Confirms Estimates of Genetic Prevalence, Underdiagnosis, and Potentially Greater Symptom Burden of Gain-of-Function CASR Variants Associated with ADH1
BridgeBio Pharma, Inc. – By examining over 100 unique variants associated with the CASR gene causative of ADH1,…