Researchers analyze 2.2 million genomes to show that addiction risk is primarily driven by broad genes affecting brain wiring and impulse control, not drug-specific traits.

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

In a landmark discovery, researchers from the University of Antioquia have identified a new genetic syndrome that bridges the gap between neurodevelopmental disorders and neurodegenerative diseases.

Scientists in China have developed a "capsule" delivery system to transplant healthy mitochondria into diseased cells, a breakthrough that could lead to new treatments for Parkinson's disease, rare ...

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient ...

The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic ...

Prenatal screening empowers expectant parents with vital knowledge that helps them make informed decisions during a delicate phase of life. Not just intellectual disabilities Down Syndrome can also le ...