genetic diseases

BridgeBio Pharma, Inc. – By examining over 100 unique variants associated with the CASR gene causative of ADH1,…

India has no prevalence data for rare diseases and very little genetic references for its own population. Arjun…

In a major leap for genetic diagnostics, scientists from the University of Melbourne and the Murdoch Children’s Research…

There are an estimated 6,000 Mendelian diseases, most of which still lack cures. Gene editing is an essential…

There are an estimated 6,000 Mendelian diseases, most of which still lack cures. Gene editing is an essential…

Novel Human Genetics Evidence Confirms Estimates of Genetic Prevalence, Underdiagnosis, and Potentially Greater Symptom Burden of Gain-of-Function CASR Variants Associated with ADH1