Almost 1,500 genes have been implicated in intellectual disabilities; yet for most people with such disabilities, genetic causes remain unknown. Perhaps this is in part because geneticists have been ...

What Is the MTHFR Gene Mutation? The MTHFR gene mutation is a variation in the MTHFR gene. This gene normally tells your body how to make the MTHFR protein. You need this protein to process folate, ...

Despite progress in defining functional elements of noncoding DNA, it is still not fully understood. Researchers, using an experiment that elucidated the function of tens of thousands of noncoding ...

Blau syndrome is a rare, autosomal dominant autoinflammatory disorder arising from mutations in the NOD2 gene, a key regulator of the innate immune response. It is classically defined by a triad of ...

As a group, carriers of recessive disorders are slightly less healthy and have a reduced chance of having offspring. This disadvantage is greatest for carriers of a recessive gene for intellectual ...

Mutations in the CASK gene, which encodes a multidomain scaffolding protein critical for neuronal development and synaptic organisation, have been increasingly implicated in a broad spectrum of ...

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism spectrum disorder affect early brain development, providing new insights ...

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, ...

Cancer is often thought of as a single disease. Yet even tumors that arise in the same organ can follow very different genetic paths. A new study shows that these differences can sometimes be traced ...

What do your genes have to do with growing old? Quite a lot. But is it due to the actual DNA, or the way those genes are expressed? KPBS sci-tech reporter Thomas Fudge has more on new research that ...