An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing.

The genetic testing rate is lower for Black than non-Hispanic White patients with inherited retinal diseases (IRDs), ...

New work points to a GGC repeat expansion that encodes a polyglycine-containing protein as a cause of SCA4, highlighting polyglycine disorders as an emerging human genetic disease class.

Research scientist Yosuke Tanigawa and Professor Manolis Kellis at MIT Computer Science and Artificial Intelligence ...

Despite diagnostic and therapeutic advances, mortality and the multi-systemic health impact of SMA continue to be experienced ...

DNA analysis of victims in Pompeii who died in Mount Vesuvius' eruption reveals some unusual relations between the people who ...

Clinical genetics involves the study, counselling and treatment of individuals and families with heritable disorders and disease predisposition. Diagnostic tools include standard ontologies for ...

Genetic studies overwhelmingly are based on data from people of European descent. But University of Maryland, Baltimore scientists are working to change that. Researchers have developed the Genetics ...

Ancient DNA recovered from Pompeii shows that people found holding one another beneath the volcanic ash weren’t related in ...

The National Comprehensive Cancer Network (NCCN)-;an alliance of leading cancer centers focusing on maintaining evidence-based expert consensus driven guidelines for care-;announces the publication of ...

Suicide rates reached an all-time high in 2023, and officials don’t expect improvement this year. Researchers are working to ...

Scientists from Duke-NUS Medical School and their collaborators have identified an inherited genetic variation prevalent among East Asians that contributes to drug resistance, driving the aggressive ...