"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

An Ice Age double burial in Italy has yielded a stunning genetic revelation. DNA from a mother and daughter who lived over 12,000 years ago shows that the younger had a rare inherited growth disorder, ...

Researchers at the Sanford Stem Cell Institute have taken the fight against rare diseases to the lab, to patients’ bedsides ...

Milan, Italy: A new, rapid testing method will greatly help the diagnosis of rare diseases in babies and children, according to research to be presented to the annual conference of the European ...

A novel method has been developed to help rapidly diagnose rare genetic diseases. A new laboratory method developed by researchers at Columbia University Vagelos College of Physicians and Surgeons (NY ...

Half of all babies diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency die within their first week of life Getty KJ Muldoon was diagnosed with severe carbamoyl phosphate ...

Researchers led by the University of Vienna and Liège University Hospital Center have identified genetic variants associated with a rare inherited growth disorder in two prehistoric individuals who ...

Growth charts for children with rare genetic disorders - giving healthcare professionals and families clearer guidance on how a child is developing - have been created by an international team, led by ...

Motivated by 'Harry Potter' and fueled by mini muffins, one Utah woman turned an ordinary treadmill run into an extraordinary 26.2-mile feat Carissa Elise Resek Carissa Resek was born with a rare ...

A "gene silencer" (technically known as small interfering RNA, or siRNA), locally delivered by nanoparticles embedded in an injectable gel produced through 3D printing, can switch off the defective ...