Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

Genetic variants that reduce the editing levels of double-stranded RNA are associated with autoimmune and immune-mediated conditions, a study finds.

Height and onset of menarche are among traits linked to previously unidentified genetic variants in noncoding regions of the human genome.

He advanced the field of medical genetics, spoke out about reducing the stigma associated with mental illness, and captured attention for asserting that scientific evidence failed to demonstrate that life begins at conception.

The biotech company Verve Therapeutics launched the study with the aim of using base editing to treat a genetic condition that causes high cholesterol and increases a person's risk of developing cardiovascular disease.

Tumors contain thousands of genetic changes, but only a few are actually cancer-causing. A quicker way to identify these driver mutations could lead to more targeted cancer treatments.

A first-of-its-kind gene therapy dramatically reduced misfolded protein levels in some clinical trial participants for up to six months and reduced levels in all participants for up to a year.

In just 16 months, physicians went from identifying a novel rare disease in three-year-old Marley to successfully treating her with a drug previously used to treat African sleeping sickness and pediatric cancer.

He famously identified the genetic mutation that causes the condition in 1991.

RNA-DNA complexes that were modified with cholesterol made it into the brains of rats and mice, where they knocked down target genes.

Loss of the protein ATG7 is fatal in mice, but not always for people—although it is linked to human neurodevelopmental disorders, researchers report.

It’s not clear why the patients with Leber hereditary optic neuropathy, a mitochondrial disorder that causes blindness, also experienced the modest benefits in their untreated eye.

Two new medications for treating a rare and deadly neuromuscular disease have high prices and questionable efficacies, say scientists.

Trophoblasts, collected from the mother during a blood draw, can determine fetal genetic abnormalities currently diagnosed through amniocentesis or chorionic villi sampling.