Ryan Purcell
- Department of Biomedical Informatics
Adjunct Assistant Professor
Overview
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. My research is currently 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 (ASD) and schizophrenia (SCZ). 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 such as SCZ and ASD.
Education
Degrees
- PhD from Emory University
- BA from Johns Hopkins University
Research
Publications
-
Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion.
Sci Adv Volume: 9 Page(s): eadh0558
08/18/2023 Authors: Purcell RH; Sefik E; Werner E; King AT; Mosley TJ; Merritt-Garza ME; Chopra P; McEachin ZT; Karne S; Raj N -
Cross-species transcriptomic analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion.
bioRxiv
05/26/2023 Authors: Purcell RH; Sefik E; Werner E; King AT; Mosley TJ; Merritt-Garza ME; Chopra P; McEachin ZT; Karne S; Raj N -
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.
Genome Med Volume: 15 Page(s): 35
05/10/2023 Authors: Yilmaz F; Gurusamy U; Mosley TJ; Hallast P; Kim K; Mostovoy Y; Purcell RH; Shaikh TH; Zwick ME; Kwok P-Y -
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact.
Am J Hum Genet Volume: 109 Page(s): 1353 - 1365
08/04/2022 Authors: Commission on Novel Technologies for Neurodevelopmental Copy Number Variants -
Mice lacking full length Adgrb1 (Bai1) exhibit social deficits, increased seizure susceptibility, and altered brain development.
Exp Neurol Volume: 351 Page(s): 113994
05/01/2022 Authors: Shiu FH; Wong JC; Yamamoto T; Lala T; Purcell RH; Owino S; Zhu D; Van Meir EG; Hall RA; Escayg A -
Metabolic effects of the schizophrenia-associated 3q29 deletion.
Transl Psychiatry Volume: 12 Page(s): 66
02/17/2022 Authors: Pollak RM; Purcell RH; Rutkowski TP; Malone T; Pachura KJ; Bassell GJ; Epstein MP; Dawson PA; Smith MR; Jones DP -
Caregiver Perspectives on a Child's Diagnosis of 3q29 Deletion: "We Can't Just Wish This Thing Away".
J Dev Behav Pediatr Volume: 43 Page(s): e94 - e102
02/01/2022 Authors: Glassford MR; Purcell RH; Pass S; Murphy MM; Bassell GJ; Mulle JG; Emory 3q29 Project,* -
Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report.
Ann N Y Acad Sci Volume: 1506 Page(s): 5 - 17
12/01/2021 Authors: Cable J; Purcell RH; Robinson E; Vorstman JAS; Chung WK; Constantino JN; Sanders SJ; Sahin M; Dolmetsch RE; Shah BM -
Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.
Am J Med Genet A Volume: 185 Page(s): 2094 - 2101
07/01/2021 Authors: Mak BC; Sanchez Russo R; Gambello MJ; Fleischer N; Black ED; Leslie E; Murphy MM; Emory 3q29 Project; Mulle JG -
Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome.
Transl Psychiatry Volume: 11 Page(s): 357
06/15/2021 Authors: Sefik E; Purcell RH; Emory 3q29 Project; Walker EF; Bassell GJ; Mulle JG