Impact of Loss of the Autism Risk Gene CHD8 On Expression
Program title: The Investigator Initiated Research Grant
Funding source: NIMH
Principle Investigator: Rebecca Muhle, MD Ph.D
The overall objective of this proposal is to elucidate the mechanisms whereby CHD8 genetic mutations affect cells and pathways critical for core symptoms of ASD and other neurodevelopmental disorders, by integrating state-of-the-art single nuclear transcriptomics and cell type specific functional genomics with electrophysiologic and behavioral probing of animal models with a loss of CHD8 expression.
Identifying Developmental Pathways that Regulate ASD Risk Networks
Program title: Bridge to Independence
Funding source: Simons Foundation for Autism Research Initiative (SFARI)
Principle Investigator: Rebecca Muhle, MD Ph.D
The major goal of this project is to define the molecular and cellular phenotypes and to identify the upstream factors that affect the regulatory networks of genes and pathways associated with autism risk.
Characterization of novel phenotypes resulting from loss of the autism risk gene CHD8
Program title: Louis V. Gerstner, Jr. Scholars Program
Funding source: Columbia Vagelos College of Physicians and Surgeons
Principle Investigator: Rebecca Muhle, MD Ph.D
The goals of this project are to assess the rate and progression of abnormal brain electrical activity in people carrying disruptive genetic variants in CHD8 and to determine the molecular and electrographic mechanisms of reduced response to dopaminergic agents in CHD8 mutant mice.
Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism
Program title: Autism Center of Excellence Award
Funding source: NICHD
Principle Investigator: Wendy Chung, MD; Jeremy Veenstra-VanderWeele, MD
Co-Principle Investigator: Rebecca Muhle, MD Ph.D
The goal of the Autism Center grant is to identify and study a diverse, population-based cohort of infants with monogenic risk for autism to evaluate the impact of early life identification of genomic risk variants on parent experience, neurodevelopmental trajectories, and prediction of autism diagnosis.
Research Education in Child Psychiatry Residency
Program title: NIMH Research Education Program
Funding source: NIMH
Principle Investigator: Jeremy Veenstra-VanderWeele, MD
Co-Principle Investigator: Rebecca Muhle, MD Ph.D
The major goal of this project is to improve recruitment, retention, and training of Child Psychiatry research trainees.
Past funding
Mapping Regulatory Networks of Autism Risk at Cellular Resolution during Neurodevelopment
Program title: Mentored Clinical Scientist Research Career Development Award
Funding source: NIH
Principle Investigator: Rebecca Muhle, MD Ph.D
The major goal of this project is to determine the developmental signaling pathways upstream of ASD risk genes expression, and the regulatory networks of genes and pathways downstream of ASD risk gene expression during neurodevelopment.