Precision Medicine Strategies for Understanding Molecular Mechanism of Autism: Focus on CHD Proteins

Project: Experimental Development/Translation Research

Project Details

Abstract

Autism Spectrum Disorders (ASD) encompass a range of neurodevelopmental disorders characterized by behavioral, communication, and social deficits. Despite the involvement of numerous genetic variants and genes in ASD, only a few have been validated. Additionally, the molecular events underlying ASD development remain poorly understood. Establishing a precision medicine pipeline is crucial to validating genetic variants and uncovering molecular mechanisms. This proposal aims to establish a comprehensive precision medicine pipeline in Qatar for ASD research. Given the complexity of ASD and the multitude of variants implicated, integrating multiple approaches is necessary. We have identified Chromodomain-helicase-DNA-binding (CHD) proteins as a promising target. CHD proteins modify gene expression by altering chromatin structure. Notably, CHD1/2 mutations have been linked to ASD, with CHD2 showing a strong burden of de novo point mutations.

Submitting Institute Name

Hamad Bin Khalifa University (HBKU)
Sponsor's Award NumberARG02-0408-240151
Proposal IDEX-QNRF-ARG-184
StatusActive
Effective start/end date15/04/2515/04/28

Primary Theme

  • Precision Health

Primary Subtheme

  • PH - National Health Mapping Programs

Secondary Theme

  • None

Secondary Subtheme

  • None

Keywords

  • Autism Spectrum Disorders
  • Molecular Dynamics Simulations
  • Genetics and Genomics

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