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 ...

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.

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, ...

A collaboration including Rice University, Baylor College of Medicine and Texas Children’s Hospital’s Jan and Dan Duncan Neurological Research Institute (NRI) has produced a breakthrough in how to ...

The study, titled “Association of IgG4-Related Disease with Human Inborn Errors of Immunity,” involved 18 patients diagnosed with IgG4-RD, all of whom underwent Whole Exome Sequencing (WES) to examine ...

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 ...

In India, rare diseases are not so rare. It is estimated that around 70 million Indians live with one of more than 7,000 rare ...

An estimated 3 million Americans have an inflammatory bowel disease (IBD) such as Crohn's disease or ulcerative colitis. But a lucky few individuals are far less likely to develop IBD because they ...

Telomeres — the protective caps at the ends of chromosomes — function like molecular clocks, shortening as cells divide and age. When they become too short, cells stop replicating, accelerating aging ...

We conducted a whole-exome sequencing in a nested case-control study within the French Childhood Cancer Survivors Study for 450 survivors including 163 cases and 287 controls. Rare variants in genes ...