Tag: inherited

When a 9-year-old girl with anemia, breathing problems, and recurrent infections sought help for her mysterious ailments, Yale researchers and their collaborators at the National Institutes of Health sequenced her genes to pinpoint a cause. What they discovered was not only a new disease but unexpected new roles for a gene that affects the immune

An international research team has today reported the first results of a study investigating the natural history of progressive familial intrahepatic cholestasis (PFIC)—a rare genetic liver disease that predominantly affects children. Most alarmingly, the team reported that, by the age of 10 years, approximately half of the children with two different forms of PFIC had