Ryan Purcell, Ph.D.
“Our lab is focused on understanding the neurobiology that is disrupted by genetic risk factors for schizophrenia, autism, and other developmental conditions.”
Neurobiology of psychiatric conditions
How do genetic factors produce risk for complex neuropsychiatric diseases?
How can we make progress in understanding the neurobiology of schizophrenia and related conditions? In recent years, genetic variants that confer risk for neurodevelopmental conditions have been identified at a rapid pace but our understanding of the functional effects of most of these variants remains very poor. This lack of insight into how risk genes affect the molecular biology of specific cell types impedes the development of novel, rationally designed therapeutic strategies. Dr. Purcell's research is focused on identifying the cellular and molecular phenotypes associated with copy number variants (CNVs) that have been reproducibly demonstrated to confer high risk for neurodevelopmental disorders. These CNV conditions are typically identified early in childhood due to developmental delays and confer major risk for autism spectrum disorders and schizophrenia. The goal of this work is to identify molecular mechanisms of disease risk, which will provide insights for novel strategies to address rare genetic syndromes and will likely also improve our understanding of the pathobiology of idiopathic neuropsychiatric conditions.
- Assistant Professor, Fralin Biomedical Research Institute at VTC
- Assistant Professor, School of Neuroscience, College of Science
Purcell RH, Sefik E, Werner E, King AT, Mosley TJ, Merritt-Garza ME, Chopra P, McEachin ZT, Karne S, Raj N, Vaglio BJ, Sullivan D, Firestein BL, Tilahun K, Robinette MI, Warren ST, Wen Z, Faundez V, Sloan SA, Bassell GJ, Mulle JG (2023). Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion. Science Advances 9 (33) August 16. PMID: 37585521
Commission on Novel Technologies for Neurodevelopmental CNVs [Alphabetical: Buttermore ED, Chamberlain SJ, Cody JD, DeWoody A, DeWoody YD, Dies KA, Eichler EE, Gramm M, Girirajan S, Halladay A, Lal D, Lalli MA, Levy T, Logsdon GA, Lowenstein DH, Mefford HG, Mulle JG, Muotri AR, Murphy MM, Palma EP, Pinter SF, Pollak RM, Purcell RH, Samaco RC, Shah BM, Singh KK, So J, Sundberg M, Veeraragavan S, Vogel-Farley V, Wynshaw-Boris A] (2022). Neurodevelopmental copy number variants: a roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact. American Journal of Human Genetics Aug 4; 109(8):1353-1365. PMID: 35931048
Sefik E1, Purcell RH1, The Emory 3q29 Project, Walker EF, Bassell GJ, Mulle JG (2021). Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome. Translational Psychiatry Jun 15; 11(1):357 PMID: 34131099
(1 equal contribution first authorship)
Rutkowski TP, Purcell RH, Pollak RM, Grewenow SM, Gafford GM, Malone T, Khan U, Schroeder JP, Epstein MP, Bassell GJ, Warren ST, Weinshenker D, Caspary T, Mulle JG (2019). Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion. Molecular Psychiatry. Online April 11, 2019. PMID: 30976085.
Emory University, Department of Cell Biology, Assistant Professor
Emory University, Department of Cell Biology, Instructor
- Ph.D., Neuroscience, Emory University
- B.A., Neuroscience, Johns Hopkins University
Training
- Emory University, Deparment of Cell Biology, Postdoctoral Fellow
- Universität Leipzig, Department of Biochemistry, Visting Postdoctoral Fellow
- NARSAD Young Investigator Award, 2022-2024
- Ruth L. Kirschstein National Research Service Award, July 2020 – July 2022
