Autism Spectrum Disorder is a complex condition with rising global prevalence. Research indicates it stems from a blend of ...

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 ...

A Northwestern Medicine-led study has identified mutations in the gene CEP76 as a new cause of ciliopathies, shedding light on a complex group of disorders that affect multiple body systems, according ...

Australian researchers say they have identified a gene mutation that causes the skin disease psoriasis. A chronic inflammatory condition, psoriasis causes red, scaly, itchy patches on the skin. Some ...

Scientists have identified mutations in the CPD gene as a key cause of a rare congenital hearing loss, revealing how ...

University of Queensland researchers have found that a genetic mutation that causes melanoma can lie dormant in healthy skin, ...

Researchers confirmed that sperm accumulate mutations over the years, increasing the risk of transmitting diseases to ...

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...

An international team led by Monash University researchers has uncovered the genetic code governing the way genetic mutations affect mRNA and result in disease.

Soon after psychiatrist Leo Kanner first identified autism in the 1940s, he and his colleagues proposed a simple explanation for its cause: mothers’ “lack of genuine warmth” toward their children.

More than 30 types of muscular dystrophy have been identified. They all cause problems with movement due to muscle protein defects caused by genetic mutations. Muscular dystrophy is a group of ...