Many genetic variants linked to inherited eye disorders rarely lead to disease, meaning up to 2% of people could carry these variants without ever developing vision problems, according to a new s tudy ...

An HIV-derived nucleoside therapy now treats rare genetic diseases by restoring mitochondrial DNA and improving muscle ...

A new CRISPR approach can control genes without cutting DNA, opening a safer path for treating genetic diseases. A newly ...

A Northwestern Medicine study has uncovered a promising new therapeutic approach for a rare genetic brain disorder, according ...

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.

When a child inherits a genetic condition, it often means both parents unknowingly carried genetic variations that, when combined, led to the disease. Modern genetic testing now allows families to ...

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 ...

A recent study finds that certain psychiatric disorders have considerable genetic overlap. But these genes aren’t the whole story; you have a say in what they do.

Researchers from Carnegie Mellon University have discovered a way to target RNA that could lead to new treatment options for myotonic dystrophy type 1 (DM1), the most common adult-onset form of ...

A new genetic study suggests Adolf Hitler most likely had Kallmann syndrome, a rare hormonal disorder that disrupts normal ...

CNBC’s Becky Quick recently opened up about her 9-year-old daughter Kaylie’s private battle with a rare genetic disorder. In ...