This year, gene-editing technology was customized to fix mutations in a single patient’s genes for the first time.

Researchers from the Psychiatric Genomics Consortium (PGC) report that most genetic influences on mental illness are shared across diagnostic categories, revealing a more interconnected biological ...

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 ...

Scientists discovered that certain gene changes allow cells to function even when frataxin, the protein lost in Friedreich’s ataxia, is missing. Experiments in worms, human cells, and mice revealed ...

Childhood psychosis risk appears to increase significantly among carriers of this gene variant. In A Nutshell First ...

– The Alnylam Act ® program is a genetic testing initiative designed to enable improved patient diagnosis of three rare, devastating, and life-threatening genetic diseases – – Through the Alnylam Act ...

This large-scale genomic analysis of 14 psychiatric disorders shows that most heritable risk is shared across five broad ...

A genetic method has been developed to cluster distantly related people, identifying rare genetic variants that can be used to find cases of undiagnosed genetic disease. Researchers from Vanderbilt ...

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. Researchers at ...

A Philadelphia-area infant named Baby KJ made international headlines after doctors at Children’s Hospital of Philadelphia and Penn Medicine successfully treated his rare, life-threatening liver ...

Scientists from a collaboration of Australian research institutions have proposed that editing multiple genetic variants in human embryos could significantly lower the likelihood of developing complex ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...