Cirnigliaro M, Chang TS, Arteaga SA, Pérez-Cano L, Ruzzo EK, Gordon A, Bicks LK, Jung JY, Lowe JK, Wall DP, Geschwind DH. The contributions of rare inherited and polygenic risk to ASD in multiplex families. Proc Natl Acad Sci U S A. 2023 Aug;120(31):e2215632120. doi: 10.1073/pnas.2215632120. Epub 2023 Jul 28. PMID: 37506195; PMCID: PMC10400943.
Pioneering research in
The Geschwind Lab integrates population genetics, functional genomics, and bioinformatics with basic and clinical neuroscience to advance our understanding of neurologic and psychiatric disease pathogenesis and to accelerate treatment development.
Gene
Discovery
We work to identify genes that increase risk for autism and neurodegenerative dementia
Functional
Genomics
We use functional genomics and systems biology methods to integrate data and understand mechanisms
Disease
Modeling
We model the effects of these genes using in vitro and in vivo systems, from human neurons to mouse models
Drug
Development
We perform studies focused on developing new drugs or therapeutic approaches
Featured Research
The Autism Genetics & Human Diversity Project is investigating genetic risk for autism spectrum disorders (ASD) as well as healthcare disparities in autism services among African American families. Learn more about the Autism Genetics & Human Diversity Project here.
SSPsyGene aims to understand the impacts of mutations for over 200 genes known to contribute to neuropsychiatric and neurodevelopmental disease risk. Through a high throughput, quantitative, and multi-scale pipeline, the program will generate cell lines with mutations for each gene of interest and characterize the effects of mutation on human cortical development using 2D and 3D platforms.
Established in 2015 by the National Institute of Mental Health (NIMH), the PsychENCODE Consortium (PEC) is a multi-site investigation of the genomic basis of neuropsychiatric diseases. The aim is to create a resource of mechanistic insights to guide future therapeutic development.
CWOW aims to use multi-omics and functional genomic CRISPR screens to understand the differences in gene expression and cellular function as a result of the MAPT H1/H2 haplotype inversion, its effects on sporadic and familial tauopathies, and identification of novel therapeutic targets for the treatment of tauopathies.
A large-scale, multi-lab package (9 publications) that explores the molecular underpinnings of neuropsychiatric disease risk in human brain tissues.
Correction of Autism Risk Gene Expression Levels using CRISPR-Activation
We are leveraging advances in gene editing technology – using CRISPR-A to target regions of DNA known as enhancers that will turn up the expression of genes that cause ASD. Using stem cell-based 3D human cultures called cortical organoids, we have demonstrated the effectiveness of this approach on CHD8 and SCN2A, two of the most well-characterized ASD risk genes. Read more here.
Recent Publications
Constantino JN, Abbacchi AM, May BK, Klaiman C, Zhang Y, Lowe JK, Marrus N, Klin A, Geschwind DH. Prospects for Leveling the Playing Field for Black Children With Autism. J Am Acad Child Adolesc Psychiatry. 2023 May 11:S0890-8567(23)00243-5. doi: 10.1016/j.jaac.2023.05.005. Epub ahead of print. PMID: 37196781.
Important work from our ACE network on eliminating disparities in outcomes for Black children with Autism.
The UCLA ATLAS Community Health Initiative: Promoting precision health research in a diverse biobank
Johnson R, Ding Y, Bhattacharya A, Knyazev S, Chiu A, Lajonchere C, Geschwind DH, Pasaniuc B. The UCLA ATLAS Community Health Initiative: Promoting precision health research in a diverse biobank. Cell Genom. 2023 Jan 11;3(1):100243. doi: 10.1016/j.xgen.2022.100243. PMID: 36777178; PMCID: PMC9903668.
Importance of a diverse population in biomedical research, demonstrated in the UCLA ATLAS Biobank.
Recent News
The current query has no posts. Please make sure you have published items matching your query.