A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe ...

Flinders University researchers have discovered a rare genetic mutation that could explain why some people do not respond to ...

Google DeepMind's new model deciphers how hidden DNA changes drive disease, predicting gene regulation effects with high ...

Huntington’s disease is a rare inherited neurological disorder that progressively affects movement, cognition and mental ...

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...

Mitochondria are well known as the powerhouses of the cell because of their energy generating capabilities. These little organelles are very special, because they also carry their own tiny little ...

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 ...

The study, published in Genomic Psychiatry, reveals that an inherited change in the brain can completely block the function of the trace amine-associated receptor 1 (TAAR1), a receptor targeted by ...

Using cortical organoids from individuals with autism, researchers tracked gene activity over development. Early ...

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism spectrum disorder affect early brain development, providing new insights ...