The Michigan State University College of Human Medicine is working to raise awareness of an often hidden gene mutation that’s linked to Dutch ancestry. The PLN gene acts as a sort of “dimmer switch” ...

Researchers at Karolinska Institutet have created the first detailed map showing how genetic activity is controlled in ...

Henry Ford Health has treated the first Michigan patient outside clinical trials with Roctavian, the newly approved gene ...

For more than a century, Mendelian genetics has shaped how we think about inheritance: one gene, one trait. It is a model that still echoes through textbooks—and one that is increasingly reaching its ...

Back when he was 17 and in high school, Eric Sid fainted. In the emergency room, he was diagnosed with anemia, which can cause fainting spells, and for years he thought that was the end of the story.

Dr. Derya Deniz Özdemir, senior researcher at Koç University School of Medicine and the Research Center for Translational Medicine (KUTTAM), is the lead author of the study published in Nature ...

An international team of scientists headed by researchers at the University of Edinburgh, has created a complete map showing how hundreds of possible mutations in a key cancer gene, CTNNB1, influence ...

Scientists have created a complete map showing how hundreds of possible mutations in a key cancer gene influence tumor growth. The study focused on CTNNB1, a gene that produces the protein β-catenin, ...

'Defying Rare Disease' premieres Thursday at 7 p.m. ET Susannah Rosen was diagnosed with a KIF1A gene mutation at the age of 2½. Patients diagnosed with severe KIF1A gene mutations may live only into ...

A person’s genes play a far greater role in likely lifespan than previously thought, according to a major new study published Thursday in the journal Science. Using data from human twin studies, an ...

Researchers have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of DNA can be passed down to future generations and are important for how we ...

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 ...