Categoría: MedicalXPress

Researchers have mapped how genetic switches are regulated in East Asian populations, identifying tens of thousands of unique markers linked to complex diseases. This massive dataset bridges a crucial diversity gap in genetics, paving the way for more …

Researchers at The University of Texas MD Anderson Cancer Center have discovered a new blood-based biomarker that can help identify and characterize asymptomatic people with Lynch Syndrome (LS) who are more susceptible to developing cancer based on ear…

As many as 1 in 4 cancers are driven by mutations in the SWI/SNF chromatin-remodeling complex, which controls access to DNA. A study led by St. Jude Children’s Research Hospital recently identified the gene-regulatory protein PHIP as a critical vulnera…

University of Virginia School of Medicine researchers have used an advanced gene-editing technique to correct the underlying cause of a severe form of epilepsy in lab mice. This breakthrough could one day lead to new treatments or cures.

A University of Alberta research team has found a genetic variant that can be used to identify which patients with pulmonary arterial hypertension need the most urgent care. «This could potentially save lives and health-care costs, and improve the well…

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…