Autor: Clinical genetics

An experimental drug designed to silence a gene strongly linked to Parkinson’s disease has shown encouraging effects in a first-in-human clinical trial, according to a study published in Nature Medicine. The drug, known as BIIB094, targets LRRK2, the m…

More than a quarter of people with Type 2 diabetes take GLP-1 receptor agonists, but the popular diabetes drugs might not work as well for people who have certain genetic variants, according to a new study by Stanford Medicine scientists and their coll…

Keratin is the fibrous, waterproof protein that builds everything from our hair and nails to a rhino’s horn. However, a tiny glitch in it can have problematic outcomes. A new study has found that changes in a keratin gene called KRT16 can lead to a rar…

Researchers have discovered that a mutation of the MDGA1 gene, a key factor modulating the connections and characteristics between nerve cells, serves as a new cause of autism spectrum disorder (ASD), and suggested the possibility of a drug to treat th…

Northwestern Medicine scientists have discovered that a specific long non-coding RNA activates oncogenic signaling pathways in prostate cancer cells and drives tumor progression, underscoring its potential as a therapeutic target, according to a recent…

Researchers at the University of Minnesota Medical School have developed a new method called PARTAGE that provides a clearer picture of how the genome is regulated and disrupted in diseases like cancer. The findings were published in Genome Research.

Scientists have found new genetic causes for diabetes in babies—in a part of the genome that has historically been overlooked in genetic studies. Until recently, most research has investigated causes of disease in «coding» genes—those that produce prot…

One night, Tomás realized something was seriously wrong. He went for a stroll, along the same paths near his village that he had walked along countless times with his friends, their cheerful voices echoing in the still of the night.

For centuries, mental illness and physical disease have been viewed as two distinct categories, each with its own field of study, its own doctors, and its own menu of treatments. New University of Colorado Boulder research calls that age-old dichotomy …

23andMe Research Institute, a nonprofit medical research organization, announced the publication of a study that identifies genetic predictors for GLP-1 weight loss efficacy and side effects. GLP-1 receptor agonists, including semaglutide and tirzepati…