Researchers have elucidated key steps in the ubiquitin tagging of the mutated huntingtin protein, providing hope for future ...

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

A hallmark of Parkinson's disease is the buildup of Lewy bodies—misfolded clumps of the protein known as alpha-synuclein.

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

A small change to a powerful molecular tool — using the CRISPR-Cas13 enzyme, which can detect RNA from viruses and cells — ...

Experimental gene therapies like AMT‑130 lower toxic huntingtin protein and significantly slow Huntington’s disease, offering ...

A research team has successfully demonstrated the world's first gene-editing treatment for Leber's hereditary optic ...

Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause ...

Google DeepMind's new model deciphers how hidden DNA changes drive disease, predicting gene regulation effects with high ...

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 ...

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 ...

Santhosh Girirajan receives funding from the National Institutes of Health. Genetic inheritance may sound straightforward: One gene causes one trait or a specific illness. When doctors use genetics, ...