Journal article
The epilepsy phenome/genome project
01 Aug 2013
Abstract
BackgroundEpilepsy is a common neurological disorder that affects approximately 50 million people worldwide. Both risk of epilepsy and response to treatment partly depend on genetic factors, and gene identification is a promising approach to target new prediction, treatment, and prevention strategies. However, despite significant progress in the identification of genes causing epilepsy in families with a Mendelian inheritance pattern, there is relatively little known about the genetic factors responsible for common forms of epilepsy and so-called epileptic encephalopathies. Study design The Epilepsy Phenome/Genome Project (EPGP) is a multi-institutional, retrospective phenotype-genotype study designed to gather and analyze detailed phenotypic information and DNA samples on 5250 participants, including probands with specific forms of epilepsy and, in a subset, parents of probands who do not have epilepsy.ResultsEPGP is being executed in four phases: study initiation, pilot, study expansion/establishment, and close-out. This article discusses a number of key challenges and solutions encountered during the first three phases of the project, including those related to (1) study initiation and management, (2) recruitment and phenotyping, and (3) data validation. The study has now enrolled 4223 participants.ConclusionsEPGP has demonstrated the value of organizing a large network into cores with specific roles, managed by a strong Administrative Core that utilizes frequent communication and a collaborative model with tools such as study timelines and performance-payment models. The study also highlights the critical importance of an effective informatics system, highly structured recruitment methods, and expert data review.
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Details
- Title
- The epilepsy phenome/genome project
- Creators
- Collaborative EpgpBassel Abou-KhalilBrian AlldredgeJocelyn BautistaSam BerkovicJudith BluvsteinAlex BoroGregory CascinoDamian ConsalvoSabrina CristofaroPatricia CrumrineOrrin DevinskyDennis DlugosMichael EpsteinRobyn FahlstromMiguel FiolNathan FountainKristen FoxJacqueline FrenchCatharine Freyer KarnDaniel FriedmanEric GellerTracy GlauserSimon GlynnKevin HaasSheryl HautJean HaywardSandra HelmersSucheta JoshiAndres KannerHeidi KirschRobert KnowltonEric KossoffRachel KupermanRuben KuznieckyDaniel LowensteinShannon McguirePaul MotikaGerard NesbittEdward NovotnyRuth OttmanJuliann PaolicchiJack ParentKristen ParkAnnapurna PoduriNeil RischLynette SadleirIngrid SchefferRenee ShellhaasElliott SherrJerry J. ShihShlomo ShinnarRani SinghJoseph SirvenMichael SmithJoe SullivanLiu Lin ThioAnu VenkatEileen ViningGretchen AllmenJudith WeisenbergPeter Widdess-WalshMelodie Winawer
- Publisher
- eScholarship, University of California
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Medicine (Graduate)
- Identifiers
- 991021838682704721