No photo of Gemma Louise Carvill

View Scopus Profile

Gemma Louise Carvill

  • 3388 Citations
20082020

Research output per year

If you made any changes in Pure these will be visible here soon.

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

2016Postdoctoral Fellowship, University of Washington

Education/Academic qualification

PhD, University of Cape Town

… → 2010

Research interests

  • Epigenetics
  • Epilepsy
  • Gene Regulation
  • Genetics
  • Neurogenetics
  • Stem Cells

Fingerprint Dive into the research topics where Gemma Louise Carvill is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 12 Similar Profiles

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Grants

CHD2 NMD Exon Targeting in Patient and CRISPR-generated Cell Lines.

Carvill, G. L.

Stoke Therapeutics, Inc.

9/5/19 → 9/5/20

Project: Research project

    • Orthogonal Ubiquitin Transfer to Profile E3 Substrate Specificity

    Carvill, G. L. & Kiyokawa, H.

    Georgia State University, National Institute of General Medical Sciences

    7/1/19 → 6/30/20

    Project: Research project

    • Pathogenic splicing mechanisms of an SCN1A poison exon in Dravet syndrome

    Carvill, G. L.

    Dravet Syndrome Foundation, Inc.

    1/1/19 → 12/31/20

    Project: Research project

    • Cell-free DNA sequencing approaches to define the genetic etiology of unexplained epilepsy

    Carvill, G. L.

    National Institute of Neurological Disorders and Stroke

    9/30/18 → 6/30/23

    Project: Research project

    • Postdoc Fellowship for KM Lamar in support of: Defining the molecular mechanisms of CHD2 in Lennox-Gastaut Syndrome

    Carvill, G. L.

    LGS Foundation

    9/1/18 → 8/31/20

    Project: Research project

    • Research Output

    A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies

    Happ, H. C. & Carvill, G. L., Mar 1 2020, In : Epilepsy Currents. 20, 2, p. 90-96 7 p.

    Research output: Contribution to journal › Review article

    Open Access

    • CACNA1H variants are not a cause of monogenic epilepsy

    Calhoun, J. D., Huffman, A. M., Bellinski, I., Kinsley, L., Bachman, E., Gerard, E., Kearney, J. A. & Carvill, G. L., Jun 1 2020, In : Human mutation. 41, 6, p. 1138-1144 7 p.

    Research output: Contribution to journal › Article

    Open Access

    • Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

    Carvill, G. L., Helbig, K. L., Myers, C. T., Scala, M., Huether, R., Lewis, S., Kruer, T. N., Guida, B. S., Bakhtiari, S., Sebe, J., Tang, S., Stickney, H., Oktay, S. U., Bhandiwad, A. A., Ramsey, K., Narayanan, V., Feyma, T., Rohena, L. O., Accogli, A., Severino, M. & 25 others, Hollingsworth, G., Gill, D., Depienne, C., Nava, C., Sadleir, L. G., Caruso, P. A., Lin, A. E., Jansen, F. E., Koeleman, B., Brilstra, E., Willemsen, M. H., Kleefstra, T., Sa, J., Mathieu, M. L., Perrin, L., Lesca, G., Striano, P., Casari, G., Scheffer, I. E., Raible, D., Sattlegger, E., Capra, V., Padilla-Lopez, S., Mefford, H. C. & Kruer, M. C., Jul 1 2020, In : Human mutation. 41, 7, p. 1263-1279 17 p.

    Research output: Contribution to journal › Article

    Open Access
    • 1 Scopus citations

    Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation

    Bryant, E. M., Millichap, J. J., Spinelli, E., Calhoun, J. D., Miller, C., Giannelli, J., Wolak, J., Sanders, V., Carvill, G. L. & Charrow, J., Jun 1 2020, In : American Journal of Medical Genetics, Part A. 182, 6, p. 1460-1465 6 p.

    Research output: Contribution to journal › Article

    • The path from scientific discovery to cures for epilepsy

    Carvill, G. L., Dulla, C. G., Lowenstein, D. H. & Brooks-Kayal, A. R., May 1 2020, In : Neuropharmacology. 167, 107702.

    Research output: Contribution to journal › Review article

    • 1 Scopus citations