This study confirmed known associations between rare pathogenic variants and certain cancers, but the results also revealed non-canonical associations. Rare pathogenic variants in cancer ...

An estimated 3 million Americans have an inflammatory bowel disease (IBD) such as Crohn's disease or ulcerative colitis. But ...

Among patients with SLE-associated PAH, those with rare PAH-related gene variants have a unique vasculopathy phenotype and worse outcomes.

Blood cancer is an umbrella term for a variety of diseases that affect the blood, bone marrow and lymphatic system. Like most cancers, the cause is usually mutations in the DNA, which are genetic ...

CAMBRIDGE, MA -- A new study from MIT neuroscientists reveals how rare variants of a gene called ABCA7 may contribute to the development of Alzheimer’s in some of the people who carry it.

Sequencing nearly half a million genomes, researchers show that most additive genetic influences on height, lipids, and other complex traits are now directly measurable, while pinpointing ultra-rare ...

A man in his early 70s died after adjuvant chemotherapy due to fulminant gastrointestinal toxicity and bowel ischaemia linked to an undetected dihydropyrimidine dehydrogenase (DPYD) deficiency, ...

ADHD is a neurodevelopmental disorder with a high heritability, in which the genetic component consists of thousands of genetic variants. Most variants only slightly increase the likelihood of ...

The MarketWatch News Department was not involved in the creation of this content. First English-language case study shows resolution of lesions with 308-nm Excimer laser in rare mycosis fungoides (MF) ...

As tissues age, they quietly accumulate many mutations that can drive cancer. In the hematopoietic system, such mutations often appear in otherwise healthy individuals as clonal hematopoiesis (CH), a ...