Recent findings provide one of the most detailed pictures to date of the genetic architecture of schizophrenia, opening up new avenues for research into the disorder.

The patient's genetic disorder causes frequent seizures and developmental delays. His progress, along with that of another ...

Researchers at Children's Hospital of Philadelphia (CHOP) have found that in rare instances, variants responsible for SYNGAP1-related disorders—a group of disorders characterized by developmental ...

As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life.

Lindsay Ward grows more nervous with each passing year, knowing her ultra-rare genetic disease could emerge at any time. The ...

Genetic testing is helping doctors identify rare diseases earlier, opening the door to treatment options before symptoms ...

Most inherited retinal diseases still have no approved therapy despite advances in gene therapy. This article explores why ...

Researchers have found that motor delay and low muscle tone were common signs of an underlying genetic diagnosis in children with neurodevelopment disorders. In a new study, UCLA Health researchers ...

An international collective of researchers is delivering new insights into why having multiple psychiatric disorders is the norm rather than the exception. In a study published today in the journal ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...

Sickle cell disease (SCD) is a group of genetic blood disorders. A person inherits SCD from their parents when they inherit two copies of the sickle cell gene, one from each parent. This hereditary ...