A new generation of artificial intelligence is starting to read the human genome with a fluency that would have sounded like ...

Researchers at Monash University in Melbourne, Australia, have uncovered the hidden code governing how genetic mutations affect RNA splicing and result in disease. The researchers were able to ...

Mutations are changes in the molecular 'letters' that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including ...

Google DeepMind has revealed a new artificial intelligence system, AlphaGenome, which, the researchers say, could help ...

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

It could transform our understanding of why diseases develop and the medicines needed to treat them, says researchers.

Researchers in the RIKEN Center for Brain Science (CBS) examined the genetics of autism spectrum disorder (ASD) by analyzing mutations in the genomes of individuals and their families. They discovered ...

Fourteen million people worldwide suffer from enlarged hearts, or hypertrophic cardiomyopathy (HCM), a genetic disease that thickens the heart's walls, making it harder for the organ to pump blood - ...

Euan Ashley's lab explores the intricate interactions of gene variants. Tiny "typos," or genetic mutations, can sneak into segments of DNA. Many of these are harmless, but some can cause health ...

Orphan Drug Designation applies to approximately 50,000 Patients who predominantly suffer from severe chronic pain due ...