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

Microcephaly is a congenital malformation that leads to a significantly reduced brain size and is often accompanied by ...

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 ...

Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

An international research team, led by Shinghua Ding at the University of Missouri, has identified a previously unknown ...

A condition called CD3 delta SCID is caused by a mutation in the CD3D gene, which prevents the production of the CD3 delta protein that is needed for the normal development of T cells from blood stem ...

The disease - called Mutation in NAMPT Axonopathy (MINA) syndrome - causes damage to motor neurons, the nerve cells that send signals from the brain and spinal cord to muscles. It's the result of a ...

A University of Massachusetts Amherst scientist has discovered that a mutation in the misfolding protein that causes Parkinson’s disease offers protection against another fatal neurodegenerative ...

Months after a teen girl died after undergoing a dental procedure in a Chicago suburb, her cause of death has been released.

Researchers at Baylor College of Medicine and collaborating institutions report in the journal Nature Communications how a mutation in the enzyme SKD3 can cause a form of a genetic disease known as ...

Scientists at St. Jude Children’s Research Hospital and the Broad Institute of MIT and Harvard showed how prime editing can correct the mutation that causes sickle cell disease in a potentially ...