A rare cause of hereditary cognitive decline known as CSF1R-Related Disorder (CSF1R-RD) gets its name from mutations in the CSF1R gene, discovered by Mayo Clinic. Memory loss occurs as the condition ...

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 ...

Mount Sinai scientists developed V2P, a powerful new AI tool that predicts how specific DNA mutations translate into disease, unlocking faster diagnoses and new targets for therapy.

Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people ...

Acquired DNA mutations found in the SERPINA1 gene can protect liver cells from damage in patients with alpha-1 antitrypsin ...

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 ...

During development of the digestive system, a complex network of nerves forms around it, creating a "second brain"—the enteric nervous system (ENS)—which controls the movement of food and waste ...

One of the most challenging moments in cancer treatment comes when a therapy stops working. In many metastatic cancers, drugs ...

The analysis revealed that about 2 per cent of sperm from men in their early 30s contained disease-causing mutations. That ...

Nov. 8 -- FRIDAY, Nov. 7 (HealthDay News) -- A mutated gene in the eye may account for some cases of seasonal affective disorder, that annual bout of "winter blues" experienced by an estimated 6 ...

All people have two copies of every gene – one copy inherited from each parent. The NF1 gene mutation is dominant, which means that only one of the two copies of the gene needs to have the mutation to ...