Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. A team led by scientists at the German research ...

A newly identified gene mutation may help explain why schizophrenia patients struggle to update their understanding of ...

Researchers show how mutations of gene transcription and chromatin regulation-related genes cause autism. The loss-of-function mutation of KMT2C, a gene involved in histone modification, leads to the ...

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 ...

A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...

Researchers have identified a new mutation that leads to the cardiac disease arrhythmogenic cardiomyopathy (ACM). They assessed the effect of this mutation on heart muscle cells and obtained new ...

Inherited mutations in the gene BRCA2 significantly increase the risk of carriers to breast and ovarian cancers. BRCA2, a crucial player in the body's DNA repair system, aids in repairing damaged DNA.

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 ...

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 ...