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

Researchers have understood for decades that some forms of deafness are inherited, yet until now, few of those genetic clues ...

A Nature study shows sperm from older fathers carry more disease-linked mutations, revealing how age and cell competition ...

Scientists have discovered a CPD gene mutation that causes congenital hearing loss. The study reveals how arginine and nitric ...

A new study has identified a mutation in the TREM2 gene that disrupts the brain’s ability to clear toxic amyloid plaques, ...

Researchers employed a programmable DNA base editing technology to introduce a knockout mutation in the ND5 mitochondria gene, aiming to investigate the resulting genotypic and phenotypic changes.

In a study published in Neuron, a research team at the Department of Neurology at Massachusetts General Hospital, aimed to ...

Researchers have identified a new genetic cause of hereditary optic atrophy—a condition that leads to gradual vision loss—by discovering a previously unknown mutation in the PPIB gene. T ...

Dominika Pilat, PhD, and Ana Griciuc, PhD, of the Department of Neurology at Massachusetts General Hospital are the lead and senior authors of a paper published in Neuron, "The Gain-of-Function ...

In a recent perspective published in the journal Cell Death and Differentiation, researchers in France, Germany, and Sweden discussed the unique mutational spectrum of the transformation-related ...