Bernie the golden retriever was born with black spots and stripes in his fur.

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

By Hugo Francisco de Souza Trained on genomic data spanning the tree of life, Evo 2 reveals how artificial intelligence can ...

A clustered family history of breast, ovarian, and colon cancers appropriately triggered germline testing, with BRCA1 mutation status informing individualized risk stratification and counseling.

A doctor who had a genetic condition that prevents teeth from forming searched for the DNA mutation that had affected his family for over 150 years.

A mutation in the TDP-43 protein reduces the viability of motor neurons without triggering protein clumps, researchers found.

Spain has begun using a new genetic ALS therapy that targets the SOD1 mutation and may slow nerve damage in patients with this rare condition.

A rare genetic mutation never seen before protected a man with an inherited form of Alzheimer’s from developing the disease for decades. But some researchers are cautious about concluding too much ...

An estimated 170,000 Australians were diagnosed with cancer in 2025. Many people know the causes of cancer are partly genetic. But how do your genes, which contribute so much of what makes you you, ...