SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment. It causes epilepsy, intellectual ...

SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, psychomotor delay and, frequently, autism.

To identify new genetic modifiers for epidermolysis bullosa simplex (EBS), a team led by scientists at Tel Aviv Medical Center performed exome sequencing of 195 patients with EBS from 90 different ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence (AI) tool that not only identifies disease-causing genetic mutations but also predicts the type ...

A new in vivo pharmacokinetic recall study involving 114 participants in the Estonian Biobank has provided the first clinical confirmation that previously uncharacterized genetic variants in the ...

New York, NY [December 15, 2025] —Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic ...

The gene variant posing the greatest genetic risk of late-onset Alzheimer's disease (AD) is called APOE-ε4. A different variant of the same gene, APOE-ε2, is thought to confer protection against AD.

Research shows variants affecting the PAM enzyme may blunt the glucose-lowering effects of GLP-1 receptor agonists with ...