# Complete gene knockouts in autism: identification and functional characterization

> **NIH NIH R01** · BOSTON CHILDREN'S HOSPITAL · 2021 · $442,500

## Abstract

PROJECT SUMMARY
 The overarching goal of the proposed research is to improve our understanding of the neurobiological
basis of autism spectrum disorders (ASDs). In this project we will analyze sequencing data collected from tens
of thousands of individuals with and without ASD, and examine the rate at which gene knockouts (mutations
that disrupt both functional copies of a gene) occur. Gene knockouts, while rare, can reveal critical biological
pathways that teach us about the basis of disease.
 We will compare and contrast rates and patterns of these knockouts between cases and controls, study
the effect of gender, and relate these patterns to the known preponderance of males with ASD. We will also
use this data to generate a catalog of specific genes that are knocked out more frequently in individuals with
ASD than in the general population. Finally, from this catalog, the strongest gene candidates will be chosen for
neurobiological functional studies, to provide insight into how dysfunction may alter brain development and
plasticity in autistic individuals.

## Key facts

- **NIH application ID:** 10170434
- **Project number:** 5R01MH113761-05
- **Recipient organization:** BOSTON CHILDREN'S HOSPITAL
- **Principal Investigator:** Timothy Wei-Wen Yu
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $442,500
- **Award type:** 5
- **Project period:** 2017-07-21 → 2022-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10170434

## Citation

> US National Institutes of Health, RePORTER application 10170434, Complete gene knockouts in autism: identification and functional characterization (5R01MH113761-05). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10170434. Licensed CC0.

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