Scientists at La Jolla Institute for Immunology (LJI) have discovered how a mutated gene kicks off a dangerous chain of events during blood cell production. "We know that many diseases—and all cancers ...

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

Mixed autism with developmental delay: Roughly 19 percent showed early developmental delays but few signs of anxiety, ...

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

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 ...

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

Recent advances in DNA sequencing, combined with new stem cell research approaches, have allowed an international group of scientists to identify a previously unrecognized form of diabetes that ...

Investigations suggest V2P may be efficiently applied for the automated identification of causal variants in simulated and actual patient sequencing data across phenotypes.

Maturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic form of diabetes. This report describes a case with hepatocyte nuclear factor 1-alpha ( HNF1A )-MODY due to a novel ...