Tatiana Schlossberg, the youngest granddaughter of President John F. Kennedy, recently revealed she was diagnosed with terminal acute myeloid leukemia (AML) due to a rare genetic anomaly. In a ...

Some East Asians have a genetic mutation (ALDH2*2) that impairs the function of ALDH2. It is estimated that about 40% of Japanese people carry this mutation. The carriers of the mutation have an ...

Scientists at Mount Sinai have created an artificial intelligence system that can predict how likely rare genetic mutations are to actually cause disease. By combining machine learning with millions ...

It began quietly, tucked away in the immune systems of a few dozen people scattered across the globe. They weren't superheroes. They didn't wear capes. But they carried something extraordinary, an ...

Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...

A hidden genetic mutation could predict a man’s likelihood of developing dementia. That’s according to an Australian study led by Monash and Curtin Universities, which analyzed the medical data of ...

A new study suggests a gene mutation could have a protective effect against Alzheimer's. The research looked specifically at blood stem cells, which live in the bone marrow and make different types of ...

A newly discovered genetic mutation unique to humans may help explain why we are significantly more vulnerable to cancer than our closest evolutionary relatives. Researchers at the University of ...

In 2010, Ozzy Osbourne became one of about 100 people to have his genetic material studied and deciphered. The reason? After 40 years of hard drugs and drinking, several near-death experiences, and ...

A graph-based computational tool for detecting previously invisible genetic mutations has been developed. Researchers at the University of California, Los Angeles (UCLA; USA) and the University of ...

Proteogenomics explores how genetic information translates into protein expression and function, and the role of changes across DNA, RNA, and proteins in influencing disease development and ...

Sperm from a single donor in Europe has reportedly been used to conceive at least 67 pregnancies, although the donor carried a rare cancer-causing mutation. The donor’s mutation has been linked to ...