human genetic disease
News •
ClinGen publishes data on over 2700 genes relevant to genetic diseases
• Oct. 25, 2024, 3:40 PM ET (News-Medical)
Gene editing approach helps launch first-in-human clinical trial for rare genetic disease
• Oct. 16, 2024, 11:53 PM ET (Medical Xpress)
Large-scale study of children with genetic disorders finds huge benefits of diagnosis
• Oct. 15, 2024, 7:06 AM ET (Medical Xpress)
Researchers suggest motor delay and low muscle tone may indicate genetic disorders
• Oct. 11, 2024, 8:30 AM ET (Medical Xpress)
Scientists uncover genetic cause of rare autoimmune disorder
• Oct. 2, 2024, 7:20 AM ET (Medical Xpress)
human genetic disease, any of the diseases and disorders that are caused by mutations in one or more genes of the human genome. With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization that genetic diseases are a major cause of disability and death. Rare, indeed, is the family that is entirely free of any known genetic disorder. Many thousands of different genetic disorders with defined clinical symptoms have been identified. Of the 3 to 6 percent of newborns with a recognized congenital disorder, at least half involve a predominantly genetic contribution. ...(100 of 11784 words)