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1st International Conference

Integrative Networks in Intellectual Disabilities

14-17 April, 2013

Coral Beach Hotel PaphosCyprus

Conference bookGene Networks

1 st

INTERNATIONALGENCODYSCONFERENCE

14 17

April,2013

Coral

BeachHotel,Paphos,Cyprus

MAINSPONSORANDORGANISERS:

EUproject:GENCODYS

EU7 th

FrameworkProgramGrantagreementno.:241995

www.Gencodys.EU

COSPONSORS:

WELCOME

2

WELCOME

interactions abletomodulatethediseasephenotype. and recent collaborations.

Dysfunction!

Hans

TABLE OF CONTENTS

TABLEOFCONTENTS

Page ....1..

Welcome

.............................2.. ...............3.. ..........4..

Program

...............................5.. ...............8.. ......38.. .........................68..

GENERAL INFORMATION

GENERALINFORMATION

ScientificCommittee:

Prof.HilgerRopers

Assoc.Prof.AnnetteSchenck

Prof.YannHerault

Prof.SethGrant

Prof.MartijnHuynen

Assoc.Prof.FrédéricLaumonnier

Assoc.Prof.VeraKalscheuer

Prof.PhilipposPatsalis

Prof.HansvanBokhoven

OrganizingCommittee:

Prof.HansvanBokhoven

Prof.PhilipposPatsalis

Assoc.Prof.VeraKalscheuer

Dr.DikHagenbeek

Venue:

Coral

BeachHotel&Resort

P.O.Box62874,CYͲ8099,Paphos,Cyprus

T:+35726881000

F:+35726621742

www.coral.com.cy

PROGRAM

Scientific

Program

Mon15April8:008:50Registration

Morning

8:509:00Welcome

disorders

Chairs:LucianaMusante;SheikhRiazuddin

9:009:30KeynoteEvanEichler

9:309:45Selectedabstract1ThomasArbogast

9:4510:00Selectedabstract2StephenMeader

10:0010:30KeynoteHansͲHilgerRopers

10:3011:00Coffeebreak

Chairs:SheikhRiazuddin;LucianaMusante

11:0011:30KeynoteHansvanBokhoven

12:1512:30Selectedabstract6ThomasWienker

12:3014:15Lunch

14:1514:45KeynoteAlcinoSilva

14:4515:00Selectedabstract7

RhiannonMeredith

15:1515:45KeynoteYannHumeau

15:4516:15Coffeebreak

mechanisms

Chairs:AnnetteSchenck,GuillaumePavlovic

16:1516:45KeynoteHenkStunnenberg

17:0017:15Selectedabstract10SofieMetsu

17:1517:45KeynoteLiͲHueiTsai

5

PROGRAM

Evening

20:0021:30Dinner

Morning

Chairs:GuillaumePavlovic,AnnetteSchenck

8:309:00KeynoteSethgrant

9:3010:00KeynoteStephanSigrist

10:0010:30Coffeebreak

Chairs:MartijnHuynen,CalebWebber

10:3011:00KeynoteJamelChelly

11:3012:00KeynoteGuyRouleau

Chairs:CalebWebber,MartijnHuynen

12:0012:30KeynoteYannHerault

12:3014:00Lunch

Tue16April14:0014:30KeynoteJonathanFlint

Afternoon14:3015:00KeynoteAnnetteSchenck

15:0015:30KeynoteChrisPonting

15:3016:00Coffeebreak

Afternoon/

6

PROGRAM

7

Morning

Chairs:AnnickToutain,BertdeVries

8:309:00KeynoteMaraDierssen

9:009:15Selectedabstract15SienBraat

9:159:30Selectedabstract16IlariaMeloni

9:3010:00KeynoteYpeElgersma

10:0010:30Coffeebreak

Chairs:BertdeVries,AnnickToutain

10:3011:00KeynotePhilipposPatsalis

11:0011:15Selectedabstract17ClaireRedin

11:1511:30Selectedabstract18YoshimiInaba

11:3012:00KeynoteHanBrunner

12:0012:30KeynoteCorOosterwijk

12:3014:00LunchEndofConference

KEYNOTE SPEAKERS

8

KEYNOTESPEAKERS

Recent

Genet.2012;13(8):565Ͳ75

linked

Current

malformations ofcorticaldevelopment.

Recentkeypublication:

KEYNOTE SPEAKERS

ofMouseModelsofDiseaseresearchgroupatthe ofDierssenhashelpedtounderstandtheneural memory.Dierssen'sgrouphasdevelopednovel president disability? (2008), human his

Recentkeypublication:Sporadic

485(7397):246Ͳ50

T

Models

9

KEYNOTE SPEAKERS

developmental disordersgainsrapidprogress.Inordertobe that identified drug

Tuberous

brain

Recentkeypublication:Treatment

of basis toidentifythecausesofmajordepression.

Recentkeypublication:

Sequence

10

KEYNOTE SPEAKERS

Seth

Kandel

Edinburgh.

synaptome.

CurrOpinNeurobiol.2012;22(3):522Ͳ9

and Down

Recent

10):600

Ͳ10

disabilities disorders ofCDgenes. mouse models. 11

KEYNOTE SPEAKERS

field working )and secretary generaloftheEuropeanPatients'Networkfor

Medical

ResearchandHealthEGAN(www.egan.eu

www.biomedinvo4all.com ).HecoordinatedtheFP7project ).Reference:

Paediatric

C ethicalchallenges diagnosisofgeneticdisorders.

Recentkeypublication:FetalͲspecific

DNA 21.

Nat.Med.2011;17(4):510Ͳ3

project cortical identifying among biologicalcomplexity. of amniotes 12

KEYNOTE SPEAKERS

Netherlands.

disorders

Neurological

Penfield

ChairinNeuroscience,Fullprofessorinthe

focused and

Rouleau's

mainachievementsarehiscontributiontothe

Masters,

contributiontoscienceandsociety. movements.Science2010;328(5978):592 13

KEYNOTE SPEAKERS

disorders

Disability,

her identified disorders.

PLoSBiol.2011,9(1):e1000569

i nain ao . (Smic micasw studiessy psesphysiologicalandpathophysiologicalcontextin model systems,p rticularlyDr sophilaGeneticanalysisis depletionTED),bioche al&proteoanalysesellas proteins, T autophagyͲdependentmanner 14

KEYNOTE SPEAKERS

Sclerosis.

He

Neurobiology,

first

America,AsiaandEurope.

Medicine2011;17:541Ͳ2

internationalorganizatio mc treatments development anddifferentiationemanatingfromthegenome and epigenomeinthecontextofhealthanddisease. Key

Massachusetts

InstituteofTechnology.Herlabstudiesbrain

development andthecellularandmolecularmechanismsthat targetingaspecificchro atinmodifyingenzymeanameliorate Key neurodegeneratingbrain.Nature2012;

483(7388):222Ͳ6

dysfunction 15

KEYNOTE SPEAKERS

16 are that &cellularneurobiologicalapproaches.

Recentkeypublication:Genetic

45:81Ͳ104

PRESENTATION ABSTRACTS

PRESENTATIONABSTRACTS

17

PRESENTATION ABSTRACTS

1.

T.Arbogast

1

A.Ouagazzal

1 andY.Herault 1,2,3 1

Institut

UMR7104,UMR964,Illkirch,France

2

Transgenese

3

Institut

indicates recombination 18

PRESENTATION ABSTRACTS

2. 4000
patientswithdevelopmentaldisorders

StephenMeader

1

AnnekeT.VultoͲvanSilfhout

2 ,JayneY.HehirͲKwa 2

FrantisekHonti

1

RolphPfundt

2

NicoledeLeeuw

2

BertB.A.deVries

2 andCalebWebber 1 1 2 and with network enrichment are disability physiology 19

PRESENTATION ABSTRACTS

3. disability

VeraM.Kalscheuer

1 HaoHu 1

StefanA.Haas

2

JamelChelly

3,4

HildeVanEsch

5

Martine

Raynaud

6,7,8,9

ArjandeBrouwer

10,11

TomaszZemojtel

2

GuyFroyen

12,13

SuzannaG.M.

Frints

14,15

FredericLaumonnier

6,7,8

MelanieBienek

1

CorinnaJensen

1

MelanieHambrock

1

Nicolas

Lebrun

3,4

LaetitiaCastelnau

3,4

MarieShaw

16

MarkA.Corbett

16

AlisonGardner

16

SaffronWillisͲOwen

16,17

KathrynL.Friend

16

StefanieBelet

18,19

MelanieJimenezͲPocquet

9

MarieͲPierreMoizard

6,7,8,9

,NathalieRonce

6,7,8,9

AnnaHackett

20

MikeField

20

EricHaan

16,21

GillTurner

20

BartųomiejBudny

22

MagdalenaBaduraͲStronka

22

AnnaLatosͲBieleŷska

22

PeterWieacker

23

TjitskeKleefstra

10

MarjoleinWillemsen

10

ThomasJ.Jentsch

18,19 ,Martin

Vingron

2 ,KlausWrogemann 1

ReinhardUllmann

1

ThomasF.Wienker

1

JozefGecz

16,21

AndreasTzschach

1

HansvanBokhoven

10,11 ,WeiChen 1,18 ,HansͲHilgerRopers 1 1

Berlin,Germany

2

14195Berlin,Germany

3

UniversityParisDescartes,Paris,France

4

Institut

5 6

InsermU930"ImagingandBrain",Tours,France

7 8

CNRSERL3106,ToursFrance

9 10

MedicalCentre,Nijmegen,TheNetherlands

11 12 13 14 15 16 17 18 19 20 21
22
Chair 23
half 20

PRESENTATION ABSTRACTS

in MRX three and known respectivegenes. 21

PRESENTATION ABSTRACTS

4. microcephalyandgrowthretardation

AnneGregor,

1

MartinOti,

2

EvelynN.Kouwenhoven,

2

JulianeHoyer,

1

HeinrichSticht,

3

ArifB.

Ekici,

1

SusanneKjaergaard,

4

AnitaRauch,

5

HendrikG.Stunnenberg,

6

SteffenUebe,

1

Georgia

Vasileiou,

1

AndréReis,

1

HuiqingZhou,

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