Genetic error linked to rare disease that causes chronic respiratory infections
Scanning the DNA of two people with a rare disease has led scientists to identify the precise genetic error responsible for their disorder, which causes persistent lung, sinus and ear infections, male infertility, and sometimes a reversed orientation of major organs in the body. The defect affects hair-like structures called cilia that extend from many cells in the body.
Patients with rare diseases to get DNA sequenced at no charge
Scientists at Washington University School of
Medicine in St. Louis, including Jimmy Lin, PhD, are reaching out to patient advocacy groups and
offering to decode the DNA of 99 patients with rare diseases to help
find the genetic alterations responsible for their illnesses. The patients’ DNA will be sequenced by the university’s Genomics and Pathology Services (GPS) at no cost to patients or advocacy groups.