A new national study reveals that most Medicaid-enrolled children with autism spectrum disorder (ASD) or intellectual disability (ID) are not receiving recommended genetic testing despite clinical ...

On Jan. 10, 2025, one day after our son’s first birthday, a genetic test gave us an answer we never expected. We learned our ...

Eight percent of children with cerebral palsy (CP) who undergo genetic testing have mutations that can be used to personalise treatment, revealed a study published recently in JAMA Pediatrics. This ...

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 ...

Children with rare genetic disorders often face years of uncertainty before receiving a diagnosis, leaving families without clear information about disease progression, treatment options, prognosis, ...

A study of more than 86,000 children found that the link between parents' and children's BMI is largely explained by shared ...

A couple with deep ties to the Chicago area is donating $11 million to Lurie Children’s Hospital in hopes of speeding research, treatment and diagnosis for children with rare and genetic disorders.

At only two days old, Sophie was losing too much weight, and too quicky. Further genetic testing would show that Sophie has one of a group of rare conditions called CODE (congenital diarrhea and ...

Sensing that breast cancer ran in certain families, the geneticist Mary-Claire King and a team of researchers at UC Berkeley ...