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 ...

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 ...

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

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.

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

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

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 ...