The primary goal of the Epi4K Center Without Walls is to increase understanding of the genetic basis of human epilepsy in order to improve the well-being of patients and family members living with these disorders. This improvement will come in the form of better diagnostics, treatments and cures. To accomplish this goal, Epi4K aims to analyze the genomes of a large number of well-phenotyped epilepsy patients and families collected by investigators from several major research groups. The specific goals of this core (3 of 7 - Sequencing, Biostatistics, and Bioinformatics Core) are to 1) sequence and annotate 4,000 genomes, 2) develop computational procedures for calling CNVs in whole exome data, 3) identify and prioritize variants of interest for all three projects, 4) conduct follow up genotypin analyses in a cohort of additional cases and controls, and 5) quickly and efficiently share data among the Epi4K consortium.

Public Health Relevance

Epilepsy is one of the most common human neurological disorders, affecting 3% of the population. Although it is clear that there is a strong genetic component for epilepsy, there are still only a few genes known. The Epi4K project will identify new genes and genetic pathways in epilepsy and will directly benefit individuals with epilepsy and their families through improved diagnostic, prognostic and recurrence risk information.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Project--Cooperative Agreements (U01)
Project #
3U01NS077303-04S1
Application #
8920192
Study Section
Special Emphasis Panel (ZNS1-SRB-B (29))
Program Officer
Stewart, Randall R
Project Start
2011-09-30
Project End
2016-07-31
Budget Start
2014-08-01
Budget End
2015-07-31
Support Year
4
Fiscal Year
2014
Total Cost
$157,166
Indirect Cost
$57,166
Name
Duke University
Department
Genetics
Type
Schools of Medicine
DUNS #
044387793
City
Durham
State
NC
Country
United States
Zip Code
27705
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