Novel and known TRPC6 variants demonstrated marked phenotypic heterogeneity without clear genotype-phenotype correlation.

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence (AI) tool that not only identifies disease-causing genetic mutations but also predicts the type ...

The gene variant posing the greatest genetic risk of late-onset Alzheimer's disease (AD) is called APOE-ε4. A different variant of the same gene, APOE-ε2, is thought to confer protection against AD.

In genetics, one harmful variant can be enough to cause disease—but two can make it far more severe. One notable example is KJ, an infant diagnosed with a rare urea cycle disorder with a grim ...

A study by researchers at The Jackson Laboratory (JAX), the Broad Institute, and Yale University has identified how specific genetic changes function in cells to influence disease risk and other human ...