Since the 1960s, Texas has screened newborns for a variety of rare diseases — like sickle cell anemia and cystic fibrosis.

NHS England will now screen newborns for a rare genetic condition that can lead to serious liver, kidney, and neurological ...

The test for the genetic condition will be included in the Newborn Blood Spot Screening Programme, which is performed five ...

Texas family had two children with their skull fused at birth. — -- When Christa and Rob Ellis welcomed their fourth child into the world, they were astounded to see a small ridge along their son ...

It can be a frightening situation. Your unborn child is diagnosed with a rare defect, and you need to go to a specialized hospital out of state for monitoring and treatments. That's what happened with ...

Growth charts for children with rare genetic disorders—giving health care professionals and families clearer guidance on how ...

For Ms Miria Mukiibi Kibirige, that struggle is a daily reality. She cares for two children living with epidermolysis bullosa ...

A research team at the Medical Faculty Heidelberg at Heidelberg University has, for the first time, identified a potential therapeutic approach for the rare FOXP1 syndrome, a congenital developmental ...