A systematic review of 52 scientific papers submitted to a world-leading clinical genetics journal from multiple scientists ...

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 ...

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, ...

Researchers have pinpointed a gene mutation associated with survival at high altitudes that could restore myelin to damaged ...

Myelin is a lipid sheath that insulates nerve fibers carrying signals throughout the brain and body. When this sheath becomes damaged, the passage of these crucial signals is disrupted, leading to ...

Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.

Figure 3. Docking of ADNP_Glu931Glyfs12 to the PTB protein. (A) The results of docking ADNP_Glu931Glyfs12 (light orange) to the PTB protein (PDB code 3DXC, navy blue) in the 934-941 amino acid region ...

Clonal hematopoiesis of indeterminate potential (CHIP) is the presence of acquired somatic gene mutations in hematopoietic cells without an apparent blood disorder. CHIP is age-related and more common ...

Tests in 1,225 patients with the most deadly form of skin cancer reveal for the first time a genetic trait among most of those who did not respond to the latest cancer treatments, known as immune ...

An optimized version of prime editing technology raises the possibility of a one-time treatment for cystic fibrosis. In their 2019 paper, Liu’s team used prime editing to alter the gene mutations ...