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www.eshg.org/eshg2015 European Human Genetics Conference This international conference (now in its 48 th year) is a forum for all workers in human and medical genetics to review advances and develop research collaborations. The conference has become one of the premier events in the field of human genetics with over 3.000 delegates, more than 100 oral presentations, 15 workshops, and 9 educational sessions. The ESHG conference is where the latest developments in human genetics are discussed, and where professionals from all parts of human genetics meet. Programme Invited Plenary lectures and Symposia ESHG Award and Mendel lectures “Educational Track” throughout the meeting Workshops Concurrent Sessions of submitted abstracts Poster presentations of submitted abstracts Young Scientist and Poster Awards Conference Fellowships for young researchers from central and eastern Europe, as well as Fellowships for National Societies Corporate Satellites Over 150 exhibitors from all over the world Further details The website www.eshg.org/eshg2015 will open in September 2014 Abstract submission Online abstract submission via www.eshg.org/eshg2015 Closing date: February 13, 2015 Scientific & Administrative Conference Secretariat ESHG 2015 c/o Vienna Medical Academy Alser Strasse 4, 1090, Vienna, Austria Tel: +43 1 405 13 83 11 & 16 Email: [email protected] Exhibition, Sponsoring, Corporate Satellites Rose International P.O.Box 93260, 2509 AG The Hague The Netherlands Tel: +31 70 383 8901 Email: [email protected] Further information on programme, registration and abstract submission: www.eshg.org/eshg2015 General Information General Information ESHG Scientific Programme Committee 2014 - 2015 (as per date of printing) Brunhilde Wirth, Chair Germany Yanick Crow United Kingdom Martina Cornel The Netherlands Paul de Bakker The Netherlands Hélène Dollfus France David Fitzpatrick United Kingdom Maurizio Genuardi Italy Daniel Grinberg Spain Gunnar Houge Norway Erik Iwarsson Sweden Xavier Jeunemaitre France Mark Longmuir United Kingdom Jose Carlos Machado Portugal Dominic McMullan United Kingdom Giovanni Neri Italy William Newman United Kingdom Minna Nyström Finland Pia Ostergaard United Kingdom Francesc Palau Spain Anita Rauch Switzerland Samuli Ripatti Finland Peter N. Robinson Germany Kristel van Steel United Kingdom Joris Veltman The Netherlands Joris Vermeesch Belgium Emma Woodward United Kingdom Karin Writzl Slovenia ESHG Annual Meetings Committee 2014 - 2015 President: Helena Kääriäinen Finland President-elect: Feliciano Ramos Spain Vice-President: Han Brunner The Netherlands Secretary General: Gunnar Houge Norway Deputy Secretary General: Karin Writzl Slovenia Chair of the AMC: Andrew Read United Kingdom Local Host: Angela Douglas United Kingdom Executive Officer: Jerome del Picchia Austria Advisors: Jantie de Roos The Netherlands Mirjam Uebelhör Austria Kristina Libova Austria The European Society of Human Genetics promotes research in basic and applied human and medical genetics and facilitates contact between all persons who share these aims. Scotland, United Kingdom, June 6-9 ESHG Glasgow 2015 Scottish Exhibition and Conference Centre © Peter Ribbeck 2014

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ESHG 2011 - Opzet bewegwijzeringRAI Amsterdam 30-05-2011 / 01-06-2011A Booth B.V. - Zijtocht 8 - NL 1507 CD Zaandam

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www.eshg.org/eshg2015European Human G enetics Conference

This international conference (now in its 48th year) is a forum for all workers in human and medical genetics to review advances and develop research collaborations. The conference has become one of the premier events in the field of human genetics with over 3.000 delegates, more than 100 oral presentations, 15 workshops, and 9 educational sessions. The ESHG conference is where the latest developments in human genetics are discussed, and where professionals from all parts of human genetics meet.

Programme • InvitedPlenarylecturesandSymposia• ESHG AwardandMendellectures• “EducationalTrack”throughoutthemeeting• Workshops• ConcurrentSessionsofsubmittedabstracts• Posterpresentationsofsubmittedabstracts• YoungScientistandPosterAwards• ConferenceFellowshipsforyoungresearchersfrom

centralandeasternEurope,aswellasFellowshipsforNationalSocieties

• CorporateSatellites• Over150exhibitorsfromallovertheworld

Further details Thewebsitewww.eshg.org/eshg2015 willopeninSeptember2014

Abstract submission

Onlineabstractsubmissionviawww.eshg.org/eshg2015Closing date: February 13, 2015

Scientific & Administrative Conference Secretariat

ESHG2015c/oViennaMedicalAcademyAlserStrasse4,1090,Vienna,AustriaTel:+431405138311&16Email:[email protected]

Exhibition, Sponsoring, CorporateSatellites

RoseInternationalP.O.Box93260,2509AGTheHagueTheNetherlandsTel:+31703838901Email:[email protected]

Further information on programme, registration and abstract submission:

www.eshg.org/eshg2015

General Information General InformationESHG Scientific Programme Committee 2014 - 2015 (as per date of printing)

BrunhildeWirth,Chair GermanyYanickCrow UnitedKingdomMartinaCornel TheNetherlandsPauldeBakker TheNetherlandsHélèneDollfus FranceDavidFitzpatrick UnitedKingdomMaurizioGenuardi ItalyDanielGrinberg SpainGunnarHouge NorwayErikIwarsson SwedenXavierJeunemaitre FranceMarkLongmuir UnitedKingdomJoseCarlosMachado PortugalDominicMcMullan UnitedKingdomGiovanniNeri ItalyWilliamNewman UnitedKingdomMinnaNyström FinlandPiaOstergaard UnitedKingdomFrancescPalau SpainAnitaRauch SwitzerlandSamuliRipatti FinlandPeterN.Robinson GermanyKristelvanSteel UnitedKingdomJorisVeltman TheNetherlandsJorisVermeesch BelgiumEmmaWoodward UnitedKingdomKarinWritzl Slovenia

ESHG Annual Meetings Committee 2014 - 2015President: HelenaKääriäinen FinlandPresident-elect: FelicianoRamos SpainVice-President: HanBrunner TheNetherlandsSecretaryGeneral: GunnarHouge NorwayDeputySecretaryGeneral: KarinWritzl SloveniaChairoftheAMC: AndrewRead UnitedKingdomLocalHost: AngelaDouglas UnitedKingdomExecutiveOfficer: JeromedelPicchia AustriaAdvisors: JantiedeRoos TheNetherlands MirjamUebelhör Austria KristinaLibova Austria

The European Society of Human Genetics promotes research in basic and applied human and medical genetics and facilitates contact between all

persons who share these aims.

Scotland, United Kingdom, June 6-9

ESHGGlasgow 2015

Scottish Exhibition and Conference Centre

© Peter Ribbeck 2014

ESHG 2011 - Opzet bewegwijzeringRAI Amsterdam 30-05-2011 / 01-06-2011 A Booth B.V. - Zijtocht 8 - NL 1507 CD Zaandam

Conference Bags

Conference Bags

Conference Bags

Conference BagsConference Bags

Bord 3, afmetingen 25x100 cm (H x B)

Bord 6, afmetingen 100x98,2 cm (H x B)

Thepreliminaryprogrammeissubjecttoalteration.PleaseconsultthewebsiteasofSeptember2015.Time Saturday, June 6 Time Sunday, June 7 Monday, June 8 Time Tuesday, June 908.30 Registration opens 08.30 S01. Big Data Genomics & Human Knock-outs

S02. ESHG-ASHG Building Bridges Symposium - Genetic testing in ChildrenS03. Epigenetic Basis of DiseaseS04. Spliceosome-opathies

S09. Evolution of the cancer genome: Clinical implications S10. From rare to common variants in cardiovascular diseases (joint with ESC) S11. Non-coding DNA & human diseaseS12. Mitochondria & Genetic Disease

09.00

Plenary Session 3PL3. Interactive Debate - Should all geneticists have their genome sequenced?ES5. Automating Clinical Genetics ES8. Care for Rare Diseases

10.00 Coffee Break Coffee Break10.30

ES1. Translational Cancer GeneticsES2. CRISPR-Cas9ES3. Palliative Care of Genetic ConditionsES4. From Genes to Networks

WS01. A case that changed my life as a clinical geneticists (TEDEx Format)WS02. Galaxy

Cor

pora

te S

atel

lites

10.30Poster Viewingwith Authors

Poster Viewingwith Authors

10.30Coffee Break

11.00

Concurrent Sessions C19 - C24fromsubmittedabstracts

11.45Free Poster

viewing - Lunch

ES6. My vision on Genomic medicine

Corporate Satellites Free Poster viewing - Lunch Corporate

Satellites

13.15 Break Break 12.30Lunch Break

12.00Lunch Break

13.30Concurrent Sessions C07 - C12fromsubmittedabstracts

Concurrent Sessions C13- C18fromsubmittedabstracts

13.30 Plenary Session 4Mendel Lecture

14.00 Welcoming Addresses - Opening 15.00 Vitamin Break Vitamin Break 14.15 Plenary Session 5ESHG Award LectureEJHG Nature AwardsYoung Investigator AwardsESHG Poster AwardsClosing

14.30Opening Plenary Session 1

15.30WS03. NGS in clinicsWS04. Dysmorphology 1WS05. Clinical Cancer GeneticsWS06. Pre-conception carrier testingWS07. Blurred boundaries between clinic and researchWS08. ENSEMBL

WS09. Practical Bioinformatics Whole exome sequence analysisWS10. Dysmorphology 2WS11. Reproductive geneticsWS12. National genome sequencing infrastructureWS13. Copy Number Variant Interpretation & ClassificationWS14. Genome Browser UCSC

16.00Vitamin Break

16.30Plenary Session 2 - HighlightsWhat’s new?fromsubmittedabstracts

16.00End of Meeting

Corporate Satellites Corporate Satellites18.00 Coffee Break 17.00 Coffee Break Coffee Break18.30

Concurrent Sessions C01 - C06fromsubmittedabstracts

17.30 S05. Reproductive genetics & ”chromosome therapy”S06. International data sharing initiativesS07. Telomeres in Human DiseaseS08. Mouse Phenotyping for clinical research

S13. Therapeutic Strategies for Genetic DiseasesS14. Somatic Mutation Detection & InterpretationS15. Evolution and DiseaseS16. Genome Regulation

ES7. Imprinting-related Disorders ES9. Mutation Prediction Tools19.00 ESHG Membership Meeting

Corporate Satellites Corporate Satellites20.00

Networking Mixer

20:00

20:30

20:30 Networking Party

PL.PlenarySessions S.ConcurrentSymposia C.ConcurrentSessions ES.EducationalSessions WS.Workshops CS.CorporateSatellites

Preliminary Schedule ESHG 2015

DearColleaguesandFriends,

The last time theESHGwas held in theUKwas in 2003, in Birmingham, Idon’tbelieveithaseverbeenheldinScotlandandagreatdealhaschangedingeneticssince2003,soitgivesmethegreatestofpleasure,onbehalfoftheBritishSocietyforGeneticMedicine(BSGM)toinviteyoutoGlasgow,forthe2015ConferenceinJune6th–9th.

GlasgowisScotland’slargestcityandisrenownedforitsculture,styleandthefriendlinessof itspeople.Glasgowoffersablendof internationally-acclaimedmuseums and galleries, stunning architecture, vibrant nightlife, fantasticshoppingandadiversearrayofrestaurantsandbars.Vibrantandenergetic,Glasgowenjoysayear-roundbuzzwithanartsscenethatregularlyproducescutting-edgeproductionsandattractshigh-profileexhibitionsthatledtothecitybeingcrownedEuropeanCityofCulturein1990.Glasgow isalsonotable for itsgreatscientists. ItwasaGlaswegianCharlesMacintoshwhopatentedtheinventionforwaterproofclothin1823andthefirstMackintoshcoatsweremadeinthefamily’stextilefactory,CharlesMacintoshandCo.ofGlasgow.Hopefullyyouwon’tneedyoursinJune.OthergreatGlaswegians includeJosephLister,pioneerofantisepticsurgeryandJamesWatt,thegreatengineerthatthe‘Watt’wasnamedafter,whostartedtheindustrialrevolution,soGlasgowknowshowtoinnovate.

The 2015 conference promises to be inspirational, just as always, and willprovidethelatestintheGenomicsRevolution,anottobemissedevent.

IlookforwardtowelcomingyoutoGlasgowandleaveyouwiththistaster:

THE HIGHLAND WELCOME

When Death’s dark stream I ferry o’er, A time that surely shall come; In Heaven itself I’ll ask no more Than just a Highland welcome.

SeeyouinGlasgowin2015!

AngelaDouglasPresident,BritishSocietyofGeneticMedicine

Invitation to the European Human Genetics Conference 2015

Deadlin

e for s

ubmitting Abstr

acts:

Friday

, Feb

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13, 2

015

www.eshg.org

/eshg20

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