The goal of our lab is to determine the genetic causes of epilepsy, as well as study how pathogenic variants in these genes affect how the brain develops and functions.
The Carvill Lab welcomes your questions and comments! For general feedback and inquiries, please contact us for more information via our office information below.
Contact Information
Gemma L. Carvill, PhD
gemma.carvill@northwestern.edu Email
303 E Chicago Ave Ward Building 9-183 Chicago, IL 60611
Office: 312-503-6187
Lab: 312-503-2196
Follow us on Twitter – @Carvilllab
Shipping Information
303 E Chicago Ave Ward Building 9-250 Chicago, IL USA 60611
Current Funding
NIH/NINDS R01 (PI: Carvill)
“Poison Exons in Neurodevelopment and Disease”
NIH/NINDS U54 (PI: Multiple)
“EpiMVP: Epilepsy Multiplatform Variant Prediction GVCC (Gene Variant and Curation Core)”
NIH/NINDS R21 (PI: Carvill)
“Deep Mutational Scanning of CHD2 for Variant Interpretation in Neurodevelopmental Disorders”
CURE Epilepsy Award (PI: Carvill)
“Convergence of high frequency oscillations with genetic and epigenetic profiles in epileptic networks: towards novel diagnostics in focal epilepsy”
Orphan Disease Center 2023 Million Dollar Bike Ride Pilot Grant (PI: Carvill)
“Leveraging predictive models to design high-throughput assays to resolve variants of uncertain significance in SYNGAP1“
CURE Rare Epilepsy Partnership Award (PI: Carvill, Mefford)
“Investigating the Methylation Signature of CHD2-related Neurodevelopmental Disorders”
Past Funding
NIH/NINDS R21 (PI: Carvill)
“The role of poison exons in neurodevelopment”
The goal of this study is to establish the framework and feasibility of this approach
to study PEs.
NIH/NINDS DP2 Directors New Innovator Award (PI: Carvill)
“Cell-free DNA sequencing approaches to define the genetic etiology of unexplained epilepsy”
The aim of this award is to test the use of cell-free DNA to identify pathogenic somatic variants in epilepsy and its use as biomarker to monitor disease.
Dravet Syndrome Foundation (DSF) Research Award (PI: Carvill)
“Pathogenic splicing mechanisms of an SCN1A poison exon in Dravet syndrome”
This award aims to identify the proteins and splicing mechanisms that control inclusion of a SCN1A exon that when included in the transcript results in premature truncation of the protein.
NIH/NINDS U54 CWOW (PI: Multiple)
“EpiMVP: Epilepsy Multiplatform Variant Prediction GVCC Core”
The major goals of this project are to develop experimental platforms to test the pathogenicity of variants of unknown significance in epilepsy. EpiMVP consists of two cores and three projects, I am PI of one of the Gene Variant and Curation Core, Overall PI Isom and Parent.
Chicago Biomedical Consortium Catalyst Grant (PI: Carvill, Nobrega)
“The Impact of Altering Genome Organization in Epilepsy Etiology”
We propose to develop and implement TADC-Hi-C to identify pathogenic epilepsy-associated SVs and dissect the pathogenic mechanisms
Support the Carvill Lab
The Carvill lab is supported by both federal and foundation grants, including the NIH, the American Epilepsy Society, the CURE Foundation and the Dravet Syndrome Foundation. We are incredibly grateful for the support of our research. While these funding sources are crucial in sustaining our ongoing research private philanthropy supports new projects and ideas in the lab that aren’t funded under these traditional mechanisms. With generous donations from the community we can explore high risk, high reward projects towards finding new genetic causes of epilepsy, understand biological mechanisms and search for new therapeutics.
If you would like to make an online donation, please go to the secure online giving form, please select ‘OTHER DESIGNATION‘ and specify ‘Carvill Lab Research‘ in the text box. Please note this is not the same as the ‘Epilepsy Gift Fund’, more information for this fund can be found here.
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If we didn’t answer all of your questions, feel free to drop us a line anytime.