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

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 ...

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

A new study by investigators at Dana-Farber Cancer Institute and Harvard Medical School is providing one of the most detailed ...

Université de Strasbourg and partners report that adding structural variants and small insertion–deletion mutations to single ...

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 ...

They observe how the mobile DNA LINE-1 copies its sequence in human cells, revealing the precise mechanism of the ORF2p gene.

Conserved sequence motifs within intrinsically disordered protein regions act as evolutionary units that support phase separation and membraneless organelle formation.