About 40% of East Asians suffer from alcohol intolerance, known as "Asian Flush Syndrome," caused by an ALDH2 genetic ...

A systematic review of 52 scientific papers submitted to a world-leading clinical genetics journal from multiple scientists ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

A mutation in the TDP-43 protein reduces the viability of motor neurons without triggering protein clumps, researchers found.

Some genetic mutations that are expected to completely stop a gene from working surprisingly cause only mild or even no symptoms. Researchers in ...

A team of researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas ...

A new gene-targeting strategy that boosts a crucial brain protein could pave the way for the first effective treatment for ...

This guide will help you understand how throat cancer is diagnosed and what your diagnosis means. Learning as much as you can may help you feel ready to talk with doctors about your care. The ...

New FDA guidelines for personalized genomic drug development are a step forward in advancing new therapies for ultrarare diseases, but industry leaders need further clarification.

Neuroscientists discover that Rett syndrome mutations cause a leaky brain via overexpressed miRNA-126-3p, pointing to a new therapeutic target for vascular repair.

A surprising new function of essential hearing proteins may explain why some genetic mutations and common antibiotics lead to permanent deafness.

In a major scientific breakthrough, researchers at Mayo Clinic’s Center for Individualized Medicine have discovered a rare genetic mutation that can directly cause a common liver disease known as ...