The human genetic code is fully mapped out, providing scientists with a blueprint of the DNA to identify genomic regions and their variations responsible for diseases. Traditional statistical tools ...

A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding ...

Explore the new AI model that links genetic mutations to disease outcomes, revolutionising genetic diagnosis and treatment.

Tel Aviv University researchers have made a remarkable discovery that could revolutionize our understanding of genetic mutations and their role in brain development. The study, published today in ...

(SALT LAKE CITY)—A 30-year-old woman with a history of upper respiratory infections had no idea she carried an immunodeficiency disorder – until her 6-year-old son was diagnosed with the same illness.

(SALT LAKE CITY)--A gene mutation associated with a rare sleep disorder surprisingly also contributes to debilitating migraines, a new study led by University of Utah researchers shows. The discovery ...

Obsessive-compulsive disorder (OCD) is a psychiatric disorder affecting one percent of the U.S. population, but the underlying causes of OCD remain relatively unknown. However, recent research has ...

The NF-κB signaling pathway plays a pivotal role in how our bodies fight infection, heal, and regulate inflammation. At the heart of this pathway is the NEMO protein, encoded by the IKBKG gene. When ...