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Mutation within the TSHZ3 gene has been identified in a patient born with abnormal kidneys who also displayed signs of ASD.
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More than 70 "citizen-scientists" from 25 countries submit more than 3,100 single-gene perturbations, and 1,238 single-drug perturbations.
Source: NIH
New genetic risk score system could help identify individuals at risk of coronary heart disease much earlier and improve prevention.
Source: NIH
Researchers have found that the TP53 gene has even greater anti-cancer activity than was previously known.
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The investment builds on a collaboration begun in 2015 to develop T2's diagnostic for Lyme disease that uses its T2MR mini MRI platform.
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OWL's serum-based tests for NAFLD and NASH will help NuSirt's fatty liver disease drug candidate NS-0200 advance through clinical trials.
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Scientists Expand Set of Tools for Accurate DNA Sequencing.
Source: NIH
Mutant traits have, for the first time, been identified in mice for 52 human disease genes.
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The pilot study will enroll 5,000 residents in an effort to better understand the role of genetics and environment in disease development.
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The research shows that valproate may effectively treat negative symptoms in patients with two copies of the "Val" variant in the COMT gene.
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