Categoría: Genetics

Congenital stationary night blindness (CSNB) is caused by mutations in a specific calcium channel. A comprehensive proteomic study by researchers at the University of Innsbruck now reveals how these mutations trigger complex, mutation-specific molecula…

In order for heart and vascular cells to develop properly and remain healthy for a long time, many processes in the cells must interact precisely. A new study from the German Center for Cardiovascular Research (DZHK) now shows that it is not only the g…

Despite major advances in genetic testing for breast cancer risk prediction, death rates remain disproportionately high among women of African ancestry. This is often due to a combination of factors, including failure of existing genetic models to accu…

How much do your genes determine how long you’ll live? It’s a question that fascinates us, and one that’s been debated for decades. For years, the answer seemed settled—genes account for about 20–25% of the variation in human lifespan, with the rest do…

A new in vivo pharmacokinetic recall study involving 114 participants in the Estonian Biobank has provided the first clinical confirmation that previously uncharacterized genetic variants in the drug-metabolizing enzymes CYP2C19 and CYP2D6 significantl…

Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and developmental delays. Although some symptoms overlap among these rare neurological conditions, patients often have different und…

Mayo Clinic researchers have developed a promising gene-editing therapy that directly corrects a genetic mutation responsible for autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney disorder.

A research team at the Korea University College of Medicine has uncovered a genetic mechanism responsible for delayed tooth development and impaired mineralization. The team, led by Professor Hae-chul Park (Department of Biomedical Sciences, Korea Univ…

Numerous genetic studies have identified many risk variants for type 2 diabetes (T2D)—but which genes and proteins are actually involved in the disease mechanisms? An international team led by Helmholtz Munich has now used globally collected genetic da…

No matter how much they brush their teeth, some people still get more cavities than others, in part because of differences in genetics and the make-up of the microbes in their mouths. A new study has found human genetic factors that influence the oral …