New genome sequencing technology at Children’s Mercy Hospital allows scientists to identify the genes that cause rare diseases in children.

The study is titled "Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders," and is published in Genetics in Medicine Open.

Rare Disease Day is meant to bring awareness to the more than 7,000 rare diseases affecting thousands of people in the U.S.

Genetic causes of rare neurodevelopmental disorders vary more than previously thought, a new study finds. Researchers discovered that serious rare disorders can be affected by combinations of ...

Gabrielius Misurenkovas can finally play football with his friends after being diagnosed with a rare genetic condition as a baby ...

The research team identified a previously unknown genetic cause of interstitial lung disease, providing answers to the parents and doctors puzzled by the child's condition.

One in 12 babies is born with a rare genetic disease. Yet, most cases go undetected until it’s too late. Here’s how AI and computer vision can help detect these conditions using smartphone ...

When an Amish patient arrived at the Children’s Hospital of Philadelphia with fatigue, a severe headache, and weakness on one side of her body, doctors scrambled to find a cause. All they could see ...

Virginia parents John and Cassie Dibble's son Jacob was born with osteogensis imperfecta, often known as brittle bone disease ...

Rare diseases are hard to diagnose and often require costly genetic testing and visits to specialists. The testing can be hard to access, especially for people who live in rural areas.

Scientists are using a new approach to pinpoint the causes of rare genetic diseases in children and identify treatment options faster than with traditional methods. The new approach combines DNA ...