Autor: Clinical genetics

Some of your most important life partners are the mitochondria that power all your cells. You and these little cellular powerhouses are in a 1.5-billion-year-old evolutionary relationship—but mitochondria brought some baggage. Mitochondria brought thei…

Cedars-Sinai investigators have identified distinct genetic variants associated with resistant hypertension, a type of high blood pressure that remains uncontrolled despite medication. Their findings, published in the journal Hypertension, suggest pote…

The Human Genetics Research Group of the University of Tartu Faculty of Medicine has identified a gene whose defect may cause congenital heart malformations in the fetus. The MGRN1 gene has not previously been associated with early human development or…

Researchers at Baylor College of Medicine have uncovered a previously unrecognized mechanism by which inherited calcium channel mutations disrupt early brain development and predispose children to epilepsy and related cognitive challenges. The findings…

For the millions of people who carry the gene APOE4, the strongest known genetic risk factor for Alzheimer’s disease, their brain activity may begin changing long before any memory problems appear. Now, researchers at Gladstone Institutes have uncovere…

A team of scientists led by the National Cancer Center Singapore (NCCS) and Duke-NUS Medical School (Duke-NUS) has found a new approach for treating some of the world’s most aggressive cancers associated with BAP1 mutations. Their research, published i…

Alain Chariot’s team has just published a study in EMBO Molecular Medicine shedding light on the unexpected role of the Stard7 protein in the development of intestinal cancers. Long regarded as a simple lipid transporter, Stard7 now emerges as a key pl…

The brain is the most complex organ in the human body. Different parts of the brain perform a variety of functions, all of which are necessary for it to operate in one way or another. These functions are carried out by neurons, which communicate with o…

Researchers have demonstrated a new class of low-cost, scalable sensors that can be used to monitor electrical activity in human cerebral organoids. Because electrical signals are key to understanding brain function, this advancement facilitates resear…

Latin American people are represented in fewer than 4% of genetic epidemiological studies around the world. When they are included, they’re often lumped together as one group, despite the rich diversity among different Latin American populations. This …