Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...

The DNA of Chernobyl cleanup workers showed mutations caused by radiation that were also evident in the genes of their ...

Congenital stationary night blindness (CSNB) is caused by mutations in a specific calcium channel. A comprehensive proteomic study by researchers at the University of Innsbruck now reveals how these ...

A Google DeepMind invention that uses artificial intelligence (AI) to predict how DNA mutations behave could have a ...

One of the most important developments in breast cancer, especially for people with hormone receptor-positive (HR+) advanced ...

Gene-editing tools like CRISPR have unlocked new treatments for previously uncurable diseases. Now, researchers at the ...

Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...

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

Although the genetic cause of many diseases have been identified, it’s estimated that as many as 70% of patients with a rare disorder do not know what causes their disease. Millions of people live ...

On Wednesday, Google's DeepMind AI research lab announced AlphaGenome, an AI model designed to identify disease markers in large volumes of genetic data. It's badly needed in a field that has produced ...

Google DeepMind has introduced AlphaGenome, an AI tool that analyses large sections of DNA to predict how genetic mutations ...

Mutations in the ATP‐binding cassette transporter A3 (ABCA3) gene are increasingly recognised as a significant contributor to interstitial lung disease (ILD) in infants and children. ABCA3 plays a ...