Researchers have conducted what they say is the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. The team, headed by researchers at the ...

Most genetic variants linked to autism are de novo mutations, which are not inherited and are relatively easy to find. A new study, in one of the largest cohorts to date, instead tracked rare ...

In general, humans have the same genes. A number of genes are varied. These control our physical traits and health. Each variation is called an allele. You inherit two alleles for each gene. One comes ...

Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...

Nigel Laing receives funding from The Australian National Health and Medical Research Council (NHMRC), the Association Francaise contre les Myopathies (AFM), the US Muscular Dystrophy Association (MDA ...