Genetic results from the Deciphering Developmental Disorders (DDD) study have enabled thousands of children with severe developmental disorders to receive better treatment. Thousands of children with ...

In a major leap for genetic diagnostics, scientists from the University of Melbourne and the Murdoch Children's Research Institute (MCRI) have developed a groundbreaking rapid blood test that can ...

Thousands of children with severe developmental disorders have benefited from more targeted treatments and support with genetic insights from the large-scale Deciphering Developmental Disorders (DDD) ...

Chicago's Lurie's Children's Hospital will expand care for patients living with rare genetic diseases and conditions thanks to a $11 million donation.

Researchers have found that motor delay and low muscle tone were common signs of an underlying genetic diagnosis in children with neurodevelopment disorders. In a new study, UCLA Health researchers ...

Doctors at the Children’s Hospital of Philadelphia had barely finished running newborn screens when the diagnosis landed: severe carbamoyl phosphate synthetase 1 deficiency, or CPS1. It’s a rare ...

The era of genetic medicines has ushered in novel and exciting ways of treating genetic diseases, one of which includes bringing to reality the promise of a one-time treatment by addressing the root ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...