For roughly one in ten people living with cystic fibrosis, the drugs that have transformed survival for most CF patients are ...

SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment. It causes epilepsy, intellectual ...

A newly identified gene mutation may help explain why schizophrenia patients struggle to update their understanding of reality. The mutation disrupts a brain circuit involved in flexible ...

A new Nature study suggests DNA mutations in immune cells may drive autoimmune diseases by removing immune system brakes, ...

GRAND RAPIDS, Mich — There is a rare gene mutation linked to sudden cardiac death and heart failure called phospholamban (PLN). It may not be very common worldwide, but likely more so in West Michigan ...

Scientists have used prime editing to permanently correct nonsense mutations in the CFTR gene, which cause cystic fibrosis in about 10% of patients who do not benefit from existing drugs. The method ...

A study by IRB Barcelona reveals that transfer RNA (tRNA) genes accumulate mutations at a frequency up to nine times higher ...

From the time we are conceived and through old age, genetic mutations accumulate in all our tissues, eluding the body’s typically efficient DNA repair machinery and potentially affecting our health ...

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic ...

Imagine getting only a few hours of sleep and being raring to go the next day. A new study published in the journal Proceedings of the National Academy of Sciences shows the discovery of a gene ...

As the body ages, cells naturally accumulate dozens of genetic mutations each year. New research from Boston Children's ...

SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, ...