Nearly 30 years ago, researchers began studying the gene Astn1, which encodes the cell adhesion protein astrotactin 1 in mice, and its role in brain development. During this time, they learned a great ...

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) ...

The genetic roots of a disease or disorder do not always grow into clear cut, easily diagnosed clinical features. Even if a parent and child have the same genetic marker implicated in an outcome, such ...

Mandatory testing of 45 genetic disorders is designed to lead to treatment before symptoms do damage.

Muscles make up nearly 40% of the human body and power every move we make, from a child's first steps to recovery after ...