50th European Human Genetics Conference (ESHG) 2017 Copenhagen

  • Conference Call
  • On behalf of the board of the Euro­pean Soci­ety of Human Genet­ics, I would like to cor­dially invite you to attend the 50th Euro­pean Human Genet­ics Con­fer­ence 2017, from May 2730, 2017 in Copen­hagen, Den­mark.

    The ESHG 2017 marks the 50th Anniver­sary of the first ESHG Con­fer­ence which took place in Copen­hagen in 1967. In com­mem­o­ra­tion of this event, we have cho­sen the Bella Cen­ter in Denmark’s cap­i­tal as the venue for our next meeting.

    Abstract Sub­mis­sion and Topics

    The enor­mous achieve­ments in the field of Human Genet­ics dur­ing the last years are chang­ing not only our under­stand­ing of genet­ics of dis­eases but also our research approaches and daily work in clinic. Due to the new devel­op­ments and insights tra­di­tional bor­ders between clin­i­cal genet­ics, cyto­ge­net­ics and mol­e­c­u­lar genet­ics as well as between research into mono­genic and com­plex dis­or­ders are van­ish­ing. There­fore the Sci­en­tific Pro­gramme Com­mit­tee of the Euro­pean Soci­ety of Human Genet­ics decided to reflect these changes in its abstract sub­mis­sion categories.

    Where does my abstract fit?

    • The dis­ease cat­e­gories (111) are meant to cover all aspects of the class of dis­or­der, i. e. clin­i­cally, cyto­ge­net­i­cally and mol­e­c­u­larly. Abstracts related to com­plex syn­dromes and cyto­ge­netic dis­or­ders with­out a main symp­tom in one of these cat­e­gories may be sub­mit­ted in topic 11 (mul­ti­ple malformation/​anomalies syndromes).
    • Topic 13 is meant for abstracts issu­ing more basic mech­a­nism in mol­e­c­u­lar and cyto-​genetics not nec­es­sar­ily related to a spe­cific phe­no­type (e. g. splic­ing mech­a­nisms, ori­gin of ring chro­mo­somes etc.).
    • Topic 14 is ded­i­cated to gen­eral aspects of tech­ni­cal approaches and qual­ity con­trol in genetic diag­nos­tics and research.
    • Topic 16 shall draw atten­tion to brand new con­cepts or new tech­niques under development.
    • Topic 19 & 20 are reserved for more gen­eral issues of genetic coun­selling, edu­ca­tion and pub­lic ser­vices, psy­cho­log­i­cal, eth­i­cal and legal issues. For these top­ics, you may want to con­sider sub­mit­ting your abstract to the joint Euro­pean Meet­ing on Psy­choso­cial Aspects of Genet­ics (EMPAG) instead. Please note that abstracts sub­mit­ted to the ESHG Topic 19 & 20 will equally be reviewed by the EMPAG SPC and may be selected as pre­sen­ta­tion at the EMPAG meeting.

    We hope that these cat­e­gories will enhance the com­mu­ni­ca­tion between researchers using dif­fer­ent approaches to inves­ti­gate the respec­tive phe­no­typic groups and facil­i­tate the selec­tion of work­shops by atten­dees accord­ing to their field of interest.


    1. Repro­duc­tive Genetics/​Prenatal Genetics
    2. Sen­sory dis­or­ders (eye, ear, pain)
    3. Inter­nal organs & endocrinol­ogy (lung, kid­ney, liver, gastrointestinal)
    4. Skele­tal, con­nec­tive tis­sue, ecto­der­mal and skin disorders
    5. Car­dio­vas­cu­lar disorders
    6. Meta­bolic and mito­chon­dr­ial disorders
    7. Immunol­ogy and hematopoi­etic system
    8. Intel­lec­tual Disability
    9. Neu­ro­ge­netic and psy­chi­atric disorders
    10. Neu­ro­mus­cu­lar disorders
    11. Mul­ti­ple Malformation/​anomalies syndromes
    12. Can­cer genetics
    13. Basic mech­a­nisms in mol­e­c­u­lar and cytogenetics
    14. New diag­nos­tic approaches, tech­ni­cal aspects & qual­ity control
    15. Personalized/​Predictive Med­i­cine and Pharmacogenomics
    16. Omics/​Bioinformatics
    17. Epi­ge­net­ics and Gene Regulation
    18. Genetic epidemiology/​Population genetics/​Statistical method­ol­ogy and evo­lu­tion­ary genetics
    19. Genetic counselling/​Education/​public services
    20. Psychological/​Ethical/​legal issues

    Con­firmed Speakers

    • Stylianos Antonarakis, CH
    • Anto­nis Anto­niou, UK
    • Phillip Beales, UK
    • Bar­bara Biesecker, USA
    • Thomas Blanken­stein, DE
    • Bernd Boden­miller, CH
    • Yvonne Bom­bard, CA
    • Kym Boykott, CA
    • Frédéric Brioude, FR
    • Han Brun­ner, NL
    • Anna Buj-​Bello, FR
    • Gabriel Capella, ES
    • Ruth Chad­wick, UK
    • Alain Ché­do­tal, FR
    • George Church, US
    • Mar­tina Cor­nel, NL
    • Noël de Miranda, NL
    • Bart Deplancke, CH
    • Denis Duboule, CH
    • D.R.Gareth Evans, UK
    • Flo­rence Fell­mann, CH
    • Greg Find­lay, US
    • David Fitz­patrick, UK
    • Lars Fors­berg, SE
    • Bar­bara Franke, NL
    • Philippe Froguel, FR
    • David González de Cas­tro, UK
    • Jay Gopalakr­ish­nan, DE
    • Renzo Guer­rini, IT
    • Mats Hans­son, SE
    • Edith Heard, FR
    • Ellen Heitzer, AT
    • Mary Her­bert, UK
    • Doug Higgs, UK
    • Henry Houlden, UK
    • Mer­itx­ell Huch, UK
    • Sergiusz Jóźwiak, PL
    • Eric Juengst, USA
    • Sekar Kathire­san, US
    • Nicholas Kat­sa­nis, US
    • Teri Klein, USA
    • Thomas Knöpfel, UK
    • Johannes Krause, DE
    • Nico­las Levy, FR
    • Erez Lieber­man Aiden, US
    • Sten Lin­nars­son, SE
    • Dario Lupi­anez, DE
    • James R. Lup­ski, US
    • Deb­o­rah MacKay, UK
    • Elaine Mardis, US
    • Susan McDaniel, US
    • Ramona Moldovan, RO
    • Patri­cia Munroe, UK
    • Ken Offit, US
    • Bog­dan Pasa­niuc, US
    • Matti Piri­nen, FI
    • Munir Pir­mo­hamed, UK
    • Nataša Pržulj, UK
    • Jeroen Raes, BE
    • Anita Rauch, CH
    • Andrew Read, UK
    • Romeo Ricci, IT
    • Mar­i­lyn Ritchie, US
    • Stephen Robert­son, NZ
    • Nilesh Samani, UK
    • Gijs San­ten, NL
    • Ravi Savari­rayan, AU
    • Richard Scott, UK
    • Christo­pher Sem­sar­ian, AU
    • Carmine Set­tem­bre, IT
    • Amitabh Sharma, US
    • Michael Talkowski, US
    • Nek­tar­ios Tav­ernarakis, GR
    • Amalio Telenti, US
    • Mark Thomas, UK
    • Zlatko Tra­janoski, AT
    • Bar­bara Treut­lein, DE
    • Syl­vere van der Maarel, NL
    • Joris Ver­meesch, BE
    • Bente Vilsen, DK
    • Axel Visel, US
    • Rosanna Weks­berg, CA
    • Dagan Wells, UK
    • Eske Willer­slev, DK
    • Ram­nik Xavier, US
    • Sasha Zher­nakova, NL

    Young Inves­ti­ga­tor Awards

    The ESHG awards prizes of EUR 500.- (together with a free par­tic­i­pa­tion at the next meet­ing) for out­stand­ing research by young sci­en­tists pre­sented as a spo­ken con­tri­bu­tion at the con­fer­ence, namely:

    • Young Inves­ti­ga­tor Awards for Out­stand­ing Science
    • Isabelle Oberlé Award for Research on Genet­ics of Men­tal Retardation
    • Lodewijk Sand­kuijl Award for the best talk in Sta­tis­ti­cal Genetics
    • Vienna Med­ical Acad­emy Award for the best talk in Trans­la­tional Medicine
    • Mia Neri Award for the best talk in child­hood cancer
    • ESHG Poster Awards

    All young sci­en­tists sub­mit­ting spo­ken pre­sen­ta­tions are encour­aged to apply by tick­ing the cor­re­spond­ing box dur­ing sub­mis­sion. The nom­i­nee must be first author (i.e. pre­sent­ing author) on an abstract sub­mit­ted for spo­ken pre­sen­ta­tion and should not be more than four years post-​doctoral and not a Prin­ci­pal Inves­ti­ga­tor (P.I.).

    The best scored abstracts, which could not be selected for oral pre­sen­ta­tion will auto­mat­i­cally com­pete for the ESHG Poster Awards.

    Authors wish­ing to be con­sid­ered for these awards should com­plete the appro­pri­ate boxes dur­ing abstract sub­mis­sion. Dead­line for appli­ca­tion is Feb­ru­ary 13, 2017.

    Satel­lite Meetings

    Choose from

    If you would like to receive more infor­ma­tion on organ­is­ing a cor­po­rate satel­lite meet­ing at the ESHG 2017, please con­tact: Ms. Jantie de Roos at Rose INTER­NA­TIONAL.

    If you are plan to organ­ise a busi­ness meet­ing dur­ing the ESHG 2017, please con­tact conference(at)eshg.org.

    If you are organ­is­ing a non-​commercial satel­lite meet­ing before or after the ESHG 2017, which you would like to have listed here, please con­tact conference(at)eshg.org.

    Sci­en­tific Committees

    Sci­en­tific Pro­gramme Committee

    • Chair: Joris Velt­man, Co-​Chair, NL
    • Advi­sor: Jerome del Pic­chia, Exec­u­tive Offi­cer, AT
    • Anders Bør­glum, DK
    • Yan­ick Crow, FR
    • Helene Doll­fus, IT
    • Francesca Forzano, Observer, IT
    • Brunella Franco, IT
    • Lude Franke, NL
    • Cecilia Gun­nars­son, SE
    • Gun­nar Houge, Deputy-​Secretary Gen­eral, NO
    • Erik Iwars­son, SE
    • Xavier Jeune­maitre, FR
    • Conxi Lazaro, ES
    • Jose C. Machado, PT
    • William New­man, UK
    • Lucy Ray­mond, UK
    • Alexan­dre Rey­mond, CH
    • Sam Riedijk, NL
    • Samuli Ripatti, FI
    • Olaug K. Rød­nin­gen, NO
    • Maria Jesus Sobrido, ES
    • Malte Spiel­mann, DE
    • Minna Helena Toivo­nen, FI
    • Enza Maria Valente, IT
    • Kris­tel Van Steen, BE
    • Joris Velt­man, Chair, NL
    • Thierry Voet, BE
    • Brun­hilde Wirth, DE
    • Karin Writzl, Sec­re­tary Gen­eral, SI

    Annual Meet­ings Committee

    • Chair: Andrew Read, Treasurer
    • Gun­nar Houge, Deputy Secretary-​general
    • Chris­tine Patch, President-​elect
    • Feli­ciano Ramos, Vice-​President
    • Olaf Riess, President
    • Joris Velt­man, Co-​Chair of the SPC
    • Karin Writzl, Secretary-​general
    • Advi­sors:
      • Jerome del Pic­chia, Exec­u­tive Offi­cer of the ESHG
      • Kristina Libova, Con­fer­ence Organ­iser, Vienna Med­ical Academy
      • Jantie de Roos & Flora van Laer, Exhi­bi­tion Organ­is­ers, Rose International
    starting: ending: 30.05.2017 Location: , Category:


    Conference START 30.05.2017 END

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