Mutation within the TSHZ3 gene has been identified in a patient born with abnormal kidneys who also displayed signs of ASD.
More than 70 "citizen-scientists" from 25 countries submit more than 3,100 single-gene perturbations, and 1,238 single-drug perturbations.
New genetic risk score system could help identify individuals at risk of coronary heart disease much earlier and improve prevention.
OWL's serum-based tests for NAFLD and NASH will help NuSirt's fatty liver disease drug candidate NS-0200 advance through clinical trials.
Scientists Expand Set of Tools for Accurate DNA Sequencing.
Mutant traits have, for the first time, been identified in mice for 52 human disease genes.
The pilot study will enroll 5,000 residents in an effort to better understand the role of genetics and environment in disease development.
The research shows that valproate may effectively treat negative symptoms in patients with two copies of the "Val" variant in the COMT gene.