"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

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.

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 ...

More than 1,000 genetic switches behave differently in male and female immune cells, helping explain why women are much more ...

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 ...

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

Melbourne researchers have made a gene therapy breakthrough that could restore heart function in children with genetic heart ...

Researchers have uncovered shared genetic pathways that link multiple psychiatric disorders. These new findings have the potential to change the way psychiatric disorders are diagnosed and treated, ...

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 ...

Mollie Murray is reportedly the only child in the UK known to be living with xeroderma pigmentosum (XP), a condition that ...