Jacob M. Loupe

The paper identifies cell type-specific regulatory elements in nine mammals and shows their conservation and association with neuropsychiatric and neurodegenerative disease risks.

The paper identifies DNA variants with allele bias in TF binding across human brain regions, linking them to eQTLs and providing insights into gene regulation effects of common and rare variation.

The paper generates a multi-omic resource of TF binding maps in human brain tissues and links TF activities to neuropsychiatric disorder risk variants.

The paper develops base editing strategies to convert CAG to CAA in Huntington's disease, reducing CAG repeat expansion and showing therapeutic potential.

The paper investigates genetic risk factors for psychiatric and cognitive symptoms in Huntington’s Disease using polygenic risk scores and finds associations between specific psychiatric risk scores and corresponding symptoms.

This study shows that the length of uninterrupted CAG repeats, not the encoded polyglutamine segment, determines Huntington's disease onset, and DNA maintenance genes modify this process.