Last update:

Clinical genetics news

How losing the 'guardian of the genome' can damage DNA and drive cancer

A new study finds that when p53, one of the most important cancer-protecting genes, stops working, cells produce too much RNA and consume excessive amounts of the building blocks needed to copy their DNA. This shortage disrupts ...

New framework boosts the accuracy of disease risk prediction from genetic data

Investigators at Cedars-Sinai Health Sciences University have developed a computational framework to improve how genetic data is used to estimate an individual's inherited risk of developing conditions like Alzheimer's disease, ...

New disease gene discovery provides answers to families

Ōtākou Whakaihu Waka researchers have helped identify the cause of a previously unrecognized neurodevelopmental disorder. Dr. Meghan Mulligan, of the Department of Biochemistry, says the finding has given people around the ...

Dozens of genes tied to OCD and tic disorders discovered

A Rutgers-led international collaboration has identified 36 genes that substantially raise the risk of obsessive-compulsive disorder (OCD) and chronic tic disorders—providing, two researchers said, the most detailed biological ...

New genetic map of the human eye reveals clues to vision loss

An international team led by University of Manchester scientists has created the most detailed picture yet of how genetic differences shape the way the human eye works. The breakthrough could help explain why millions of ...

AI model links tumor mutations to treatment response

Researchers at University of California San Diego have developed a new artificial intelligence (AI) model that can translate a tumor's complex genetic profile into predictions about how that cancer may respond to treatment. ...

How a father's obesity affects his children's metabolism

The scientific literature already contains robust evidence that obesity, whether maternal or paternal, can lead to metabolic changes in offspring that increase their risk of developing diseases. A new study published in the ...

AI uses everyday language to make genetic diagnosis easier

A new computational tool called MARRVEL-MCP helps researchers move toward genetic diagnoses more efficiently by analyzing and interpreting vast amounts of genetic and biological information using everyday language. The study, ...

Why does ALS pathology spread differently among patients?

A research team at the Brain Research Institute, Niigata University has found that APOE ε4, a genetic factor best known for increasing the risk of Alzheimer's disease, may also influence how pathological changes spread in ...

New drug target identified for Fragile X syndrome

UCLA Health researchers have identified a potential drug target for treating Fragile X syndrome, the most common genetic cause of intellectual disability and autism that affects roughly one in 2,000 boys.

Open-access tool decodes DNA change patterns in breast cancer

A study led by Dr. Jason Pitt, Principal Investigator at the Cancer Science Institute of Singapore (CSI Singapore), has identified eight new "signatures" of DNA patterns (gains and/or losses) in breast cancer. By analyzing ...