Grants per year
Personal profile
Research Interests
The primary aim of our research is to identify the genetic factors and biological mechanisms that cause epilepsy. We use a variety of sequencing technologies to identify new genetic causes in both the DNA regions that code for proteins (genes) and those that control the expression of these genes (regulatory regions). The second mission of our lab is to capitalize on the advances in gene discovery in epilepsy to create neuronal models of this disorder. Many of these 'epilepsy' genes are involved in the control of expression of other genes. In other words, they are responsible for switching certain genes ‘on’ or ‘off’ during the development and/or functioning of the brain. This switching is dependent on the 3D structure of DNA – called the epigenome. We use stem cell biology to create models of these ‘epigenetic’ genes to study how mutations affect the structure of the epigenome and the pathways affected. Identifying these pathways are the first step in finding new targets for therapeutics.
Training Experience
2016 | Postdoctoral Fellowship, University of Washington |
Education/Academic qualification
PhD, Genetics, University of Cape Town
… → 2010
Research interests keywords
- Epigenetics
- Epilepsy
- Gene Regulation
- Genetics
- Neurogenetics
- Stem Cells
Fingerprint
- 1 Similar Profiles
Collaborations and top research areas from the last five years
-
A novel computational tool to study poison exon splicing events in epilepsy
Carvill, G. L. (Other)
7/1/24 → 6/30/25
Project: Research project
-
Investigating the methylation signature of CHD2-related disorder
Carvill, G. L. (PD/PI)
St. Jude Children's Research Hospital, Citizens United for Research in Epilepsy
6/1/24 → 5/31/25
Project: Research project
-
Poison exons in epilepsy and neurodevelopment
Carvill, G. L. (PD/PI) & Calhoun, J. D. (Co-Investigator)
National Institute of Neurological Disorders and Stroke
6/1/24 → 5/31/29
Project: Research project
-
Leveraging predictive models to design high-throughput assays to resolve variants of uncertain significance (VUS) in SYNGAP1
Carvill, G. L. (PD/PI) & Calhoun, J. D. (Co-Investigator)
2/1/24 → 1/31/25
Project: Research project
-
Integration and Interoperability of Complex Data and Tissues from the Human Brain
Gerard, E. E. (PD/PI) & Carvill, G. L. (Co-Investigator)
University of Illinois at Chicago, National Center for Advancing Translational Sciences
9/20/23 → 7/31/26
Project: Research project
-
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
Undiagnosed Diseases Network, Jan 4 2024, In: American journal of human genetics. 111, 1, p. 96-118 23 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
Jones, A. G., Aquilino, M., Tinker, R. J., Duncan, L., Jenkins, Z., Carvill, G. L., DeWard, S. J., Grange, D. K., Hajianpour, M. J., Halliday, B. J., Holder-Espinasse, M., Horvath, J., Maitz, S., Nigro, V., Morleo, M., Paul, V., Spencer, C., Esterhuizen, A. I., Polster, T. & Spano, A. & 8 others, , Apr 4 2024, In: American journal of human genetics. 111, 4, p. 729-741 13 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Erratum: A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (The American Journal of Human Genetics (2024) 111(1) (96–118), (S0002929723004366), (10.1016/j.ajhg.2023.12.004))
Undiagnosed Diseases Network, Jun 6 2024, In: American journal of human genetics. 111, 6, p. 1239 1 p.Research output: Contribution to journal › Comment/debate › peer-review
Open Access -
Erratum: A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (The American Journal of Human Genetics (2024) 111(1) (96–118), (S0002929723004366), (10.1016/j.ajhg.2023.12.004))
Undiagnosed Diseases Network, Apr 4 2024, In: American journal of human genetics. 111, 4, p. 805 1 p.Research output: Contribution to journal › Comment/debate › peer-review
Open Access -
Genomewide Association Study Identifies Copy Number Variants Associated With Warfarin Dose Response and Risk of Venous Thromboembolism in African Americans
Zhang, H., Alarcon, C., Cavallari, L. H., Nutescu, E., Carvill, G. L., Perera, M. A. & Hernandez, W., Mar 2023, In: Clinical pharmacology and therapeutics. 113, 3, p. 624-633 10 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations
Datasets
-
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Coe, B. P. (Creator), Bernier, R. A. (Creator), Eichler, E. E. (Creator), Krumm, N. (Creator), Carvill, G. L. (Creator), O'Roak, B. J. (Creator), Shendure, J. (Creator), Mefford, H. C. (Creator), Levy, O. (Contributor), Lee, C. R. (Creator), Phelps, I. G. (Creator), Doherty, D. (Creator), Nickerson, D. (Creator), Martin, B. (Creator), Vives, L. (Creator), Fu, W. (Creator), Egertson, J. D. (Creator), Stanaway, I. B. (Creator), Kumar, A. (Creator), Ankenman, K. (Creator), Munson, J. (Creator), Hiatt, J. B. (Creator), Turner, E. H. (Creator), Borenstein, E. (Creator) & Akey, J. M. (Creator), NIMH Data Archive, 2012
DOI: 10.15154/1163547, https://nda.nih.gov/study.html?id=320
Dataset