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

For too long, the promise of personalized therapies has been tantalizingly close, yet frustratingly out of reach for ...

Massive Swedish study of over two million people reveals that genetic risk for mental illness often points toward ...

ST. PAUL, Minn., Aug. 26 (UPI) --New artificial intelligence models can yield much more nuanced and detailed assessments of genetic risks for 10 inherited diseases, researchers reported Thursday. This ...

This Ice Age pair of hunter-gatherers were both shorter than average for their population – one of them markedly so – and now we finally know why. A team of researchers from Europe re-examined the ...

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.

A study of 470,000 people reveals that the APOE gene could be behind 90% of Alzheimer's cases in the world today.

From carrying a first-aid kit in first grade to launching a transformative preventive cardiology program, a Rutgers Health ...

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 ...

Scientists at Gladstone Institutes have flipped the traditional approach to finding potential treatments for deadly diseases.

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...