For the first time, doctors have treated a baby born with a rare, life-threatening genetic disorder with a gene-editing therapy scientists tailored to specifically repair his unique mutation. The baby ...

The crisis facing rare disease and disability families in Connecticut is caused by systemic underinvestment, administrative barriers, and policy choices.

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) ...

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 ...

A revolutionary gene therapy treatment in London has improved the vision of children suffering from a rare genetic disorder, offering hope to families worldwide. Among the first to benefit from the ...

The new division aims to shorten diagnostic wait times and increase clinical trials. Officials say the investment positions the hospital as a national leader in rare disease treatment. CHICAGO - Ann & ...

At Children's Hospital Colorado, Aurora, Colorado, pediatricians will soon have a new ally in diagnosing and identifying complex neurodevelopmental conditions like ...

For Karina Garza and Juan Perez of Edinburg, Texas, the arrival of their son, Marcelo, was a moment filled with joy — and the unexpected. Born at 37 weeks, Marcelo’s entrance to the world quickly ...