The IQSEC2 gene encodes a guanine nucleotide exchange factor (Arf-GEF) that plays a critical role in synaptic regulation and neuronal development. Mutations in IQSEC2 have emerged as a significant ...

Researchers identified biallelic variants in RNU2-2 as the cause of a recessive neurodevelopmental disorder marked by ...

Scientists have identified several new genetic mutations linked to a rare neurodegenerative disease called CSF1R-related disorder (CSF1R-RD). The disease is gaining recognition as the use of genetic ...

Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause ...

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

In rare cases -- for instance, among siblings in two families from Pakistan and Oman described in a new study -- children have been born with an unnamed neurological disorder. Now researchers have not ...

—A new study from Switzerland suggests that post-transplant lymphoproliferative disorders (PTLDs) may represent clonal expansions driven by exogenic immunosuppression, Epstein-Barr virus (EBV) ...

A New COVID Variant With 75 Mutations Is Spreading Across 25 States ...

What is the human exposome? A massive study quantifying 115,000 associations shows that cumulative environmental exposures rival genetics in predicting disease.

Wondering what really causes borderline PD? New neuroscience discoveries suggest that genetics and brain irregularities may ...