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

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

Early diagnosis of rare diseases in children can significantly improve treatment outcomes and quality of life. Learn symptoms, challenges, and why early detection is crucial for managing pediatric ...

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 ...

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

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 ...

An Ice Age double burial in Italy has yielded a stunning genetic revelation. DNA from a mother and daughter who lived over 12,000 years ago shows that the younger had a rare inherited growth disorder, ...

In many countries, newborn screening programmes test babies for certain inherited conditions shortly after birth.

Metabolic dysfunction-associated steatotic liver disease (MASLD) affects nearly one in three adults around the globe. It starts when fat builds up inside the liver’s cells. Over time, this buildup can ...

Researchers led by the University of Vienna and Liège University Hospital Centre have identified genetic variants associated with a rare inherited growth disorder in two prehistoric individuals who ...