NIH R01 · 2024
Autism spectrum disorders (ASD) are genetically diverse, characterized by both rare variants of large effect size and common variants of small effect size. Identifying the molecular mechanisms resulting from these variants presents a key challenge for the development of clinical interventions. Human pluripotent stem-cell derived neurons (hPSC-Ns) allow studies against a human genetic background, and show altered morphology and electrophysiology in ASD conditions. However, identifying mechanisms remains difficult with small numbers of lines, especially for common genetic variants. To overcome this challenge, we will leverage multi-omic characterization of hPSC-Ns perturbed with CRISPRi…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.