An international team led by Monash University researchers has uncovered the genetic code governing the way genetic mutations affect mRNA and result in disease.

The family were taking part in a study which is screening newborn babies in England for dozens of genetic conditions.

Whole genome sequencing is a technique that allows medics to looks at a person’s entire genetic code from a blood test.

Researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital (Duncan NRI) have created a new way to measure genetic variants in the ...

A new study, published in Nature Genetics, created the largest genetic map of human metabolism, revealing new insights into the role of metabolites in health and disease and creating a blueprint for ...

The contribution of genetics to the variability in people’s metabolism has remained largely unknown. This is, in part, because genetic studies of human metabolism have been limited in scale and ...

In honor of Breast Cancer Awareness Month, the TODAY show, with the help of breast cancer survivors Jill Martin and Sheryl Crow, hosted Pink Power, an event dedicated to encouraging viewers and fans ...

In 2023, Jill Martin took a test that changed her life. She underwent genetic testing for breast cancer and learned she had a BRCA2 mutation, which increases one’s risk of developing breast and other ...

Genetic testing for ATTR can detect transthyretin mutations and offer crucial information about risk, monitoring, and treatment, if needed. Transthyretin amyloidosis (ATTR) is a genetic condition that ...

A petri dish full of dead bacteria isn’t usually cause for celebration. But for Stanford’s Brian Hie it was a game-changer in his efforts to create synthetic life. The perpetrator was a type of virus ...

Sept 24 (Reuters) - Harmony Biosciences (HRMY.O), opens new tab said on Wednesday its experimental drug for a rare genetic disorder failed to meet the main goal in a late-stage trial, sending its ...