Disease development is often shaped by genetics, with how much or how little a gene is expressed influencing disease risk.

A new AI model called popEVE can predict how likely each variant in a patient’s genome is to cause disease. The team is ...

Experts estimate that genetic mutations account for about 10% of diseases, like Parkinson's, for example. The remaining 90% ...

Scientists discovered that the first 100 base pairs of human genes are unusually prone to mutations, especially during the earliest stages of embryonic development. These mosaic mutations often go ...

A new, one-time treatment could be the answer to cure Huntington's disease, a neurodegenerative disease long-considered ...

A 46-year-old man with advanced lung cancer recovered after doctors used Next Generation Sequencing to identify a rare ALK ...

Regeneron is adding its name to Tessera Therapeutics’ unique in vivo gene writing program, inking a deal that lets it in on a ...

Huntington’s disease (HD) is one of those rare conditions that affects not just the patient but the entire family—medically, emotionally and genetically. This inherited brain disorder causes gradual ...

Genetic inheritance may sound straightforward: One gene causes one trait or a specific illness. When doctors use genetics, it’s usually to try to identify a disease-causing gene to help guide ...

Most folks with genetics that put them at risk for high cholesterol and early heart disease aren't aware of their danger, a ...

There are some 80 human diseases that in one way or another are considered autoimmune. Perhaps the most common indication of an autoimmune pathogenesis is the presence of circulating antibodies that ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...