New research reveals how complex interactions between genetic variants can explain different outcomes in disorders like ...

Motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP), share physical ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease, ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate ...

We are now in the second great wave of the genetic revolution, not defined by reading the human code of life, but by rewriting it.

Affected populations: POLG-related diseases are a group of rare, incurable conditions caused by inherited gene mutations. These disease-causing mutations are carried by up to 2% of people of Northern ...

It damages proteins, DNA, and lipids, contributing to cardiovascular disease, neurodegeneration, and other conditions. Some East Asians have a genetic mutation (ALDH2*2) that impairs the function of ...

ST. PAUL, Minn., Aug. 26 (UPI) --New artificial intelligence models can yield much more nuanced and detailed assessments of genetic risks for 10 inherited diseases, researchers reported Thursday. This ...

Extra X chromosomes significantly increase the risk for systemic lupus erythematosus (SLE) and Sjögren disease, with the prevalence of these conditions being higher among patients with Klinefelter and ...