lunes, 31 de diciembre de 2012

ESHG Conference 2013 - Abstract Submission & Registration open

European Society of Human Genetics - ESHG
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Abstract Submission Countdown: There are 46 days left to submit your abstract.

Invitation to Paris

Dear colleagues,
Dear Colleagues, Dear Friends, For the third time in the 46 years of existence of the ESHG, in June 2013, the European Human Genetics Conference will return to Paris.
On behalf of the French and the European Societies of Human Genetics I am honoured to invite you to join us in our city of lights. The history of Paris dates back to more than 2000 years ago when it was a small village on the islands of the river Seine. The river is indeed the mother of Paris and Parisians, and has witnessed their glorious history and culture. Paris, now a city of world importance as the historical, political, intellectual and artistic centre of France, also has long-standing scientific and educational traditions. This is why Paris is proud to host a conference that, I am confident, will continue in the successful series of excellent ESHG meetings covering the latest developments in the field of human genetics.
Since we are witnessing an unprecedented time of technological and scientific evolutions, I am sure that the sessions and symposia will be filled with exciting and up-to-date talks, educational lectures and distinguished speakers, hopefully making the conference a success from both the scientific as well as the social points of view.
I sincerely hope that you will seize the opportunity to have a memorable visit to Paris for a meeting that we wish to be of interest for both clinicians and research scientists, and I look forward to seeing you in June 2013.
With my best regards, season's greetings… et toute mon amitié !
Stanislas Lyonnet
President of the ESHG
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Dear Colleagues,
The Scientific Programme Committee has again endeavoured to set up an exciting programme at the cutting-edge of current human genetics research.
The programme includes Plenary Sessions, Concurrent Symposia, Concurrent Sessions from submitted abstracts, Workshops, Educational Sessions (more education-focussed, broader-view-type of sessions, scheduled throughout the meeting in parallel to the Symposia) and Poster Sessions with ample viewing time.
Plenary Lectures include
  • P1 Opening Plenary Session (E. Heard, A. Prochiantz, J.L. Casanova)
  • P2 What's New? (from submitted abstracts)
  • P3 Large Scale Cohorts Studies to Identify Novel Highly Penetrant Genetic Disease Causing Variants (M. Hurles, N. Katsanis, J. Kaye)
  • P4 Mendel Lecture (Houda Zoghbi)
  • P5 ESHG Award Lecture (Felix Mitelman)

Concurrent Symposia include

  • S01. Chromatin organisation and gene expression (Y. Gilad, A. Reymond, M. Snyder)
  • S02. From genes to treatment in multifactorial diseases (A.G. Uitterlinden, S. Vermeire, R. Graham)
  • S03. Gene regulation in cancer (P. Peltomäki, J.P. Issa , N. Rahman)
  • S04. Emerging topics in neurobiology (C. Gross, D. Cleveland, M. Coleman)
  • S05. Interpreting NGS data (M. Daly, L. Vissers, Y. Moreau)
  • S06. Cancer genetics (I. Tomlinson, J. Taborda Barata, C. Swanton)
  • S07. Genetics of skin diseases and new therapies (D. Roop, A, Hovnanian, M. del Rio,)
  • S08. Evolution of organs (L. Quintana-Murci, A. McLysaght, D. Arendt)
  • S09. New therapeutic highlights in rare diseases (A. Fischer, A. Krainer, C. Klein)
  • S10. Reproductive genetics and newborn screening (S. Quake, D. Wells, B. Wilcken)
  • S11. Animal Models for Human Diseases (Y Hérault, T. Hoppe, B. Hassan)
  • S12. Judging our genes (M. Levitt, A. Santosuosso, A. Read)
  • S13. Stem cells and IPS cells in genetic diseases (O. Brüstle, C. Martinat, L. Valor)
  • S14. The interrelated world of drugs and genes (A. Daly, J. McCluskey, L. Fugger)
  • S15. The expanding world of the primary cilia (T. Attie, T. Benzing, M. Nachury)
  • S16. Chromosomal (in)stability (M. O’Driscoll, C. Morton, J. Dumanski)

Details on the programme can be found at
With best regards and season's greetings,
Brunhilde Wirth
Chair of the ESHG Scientific Programme Committe
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The Scientific Programme Committee (SPC) invites abstracts to be considered for inclusion in the programme as posters or spoken presentations in 18 Concurrent Sessions.
Abstracts can be submitted only online via the website
Deadline for submission: Friday, February 25, 2013, 24.00 hrs CET
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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 program committee of the European Society of Human Genetics decided to reflect these changes in new abstract submission categories.
Where does my abstract fit?
The technically oriented traditional categories were replaced by disease categories (2-13) which are meant to cover all aspects of the class of disorder, i. e. clinically, cytogenetically and molecularly. Of note, abstracts related to complex syndromes and cytogenetic disorders without a main symptom in one of these categories may be submitted under topic 12 (multiple malformation/anomalies syndromes). Topic 1 is reserved for more general issues of genetic counselling, education and public services. Topic 14 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 15 is dedicated to general aspects of technical approaches and quality control in genetic diagnostics and research, but due to its current impact there is an extra topic 16 for NGS screening studies. Topic 17 shall draw attention to brand new concepts as was for example the recently discovered chromothripsis or new techniques under development. Abstracts dealing with general aspects of Omics/Bioinformatics/Epigenetics, Genetic epidemiology/Population genetics/Statistical methodology or Evolutionary genetics shall be grouped in the respective categories 18.-20.
We hope that these new 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. Genetic counselling/Education/public services
  2. Reproductive Genetics / Prenatal Genetics
  3. Sensory disorders (Eye, ear, pain)
  4. Internal organs and endocrinology (heart, kidney, liver, gastrointestinal)
  5. Skeletal, connective tissue, vascular, ectodermal and skin disorders
  6. Metabolic  and mitochondrial disorders
  7. Immunology
  8. Intellectual Disability
  9. Psychiatric disorders
  10. Neuromuscular disorders
  11. Neurodegenerative disorders
  12. Multiple Malformation/anomalies syndromes
  13. Cancer genetics
  14. Basic mechanisms in molecular and cytogenetics
  15. Technical aspects and quality control
  16. New diagnostic approaches (NGS screening) in heterogeneous disorders
  17. New techniques / concepts
  18. Omics/Bioinformatics/Epigenetics
  19. Genetic epidemiology/Population genetics/Statistical methodology
  20. Evolutionary genetics
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The concurrent 'Educational Track' throughout the meeting is again scheduled in 2013.
Two sessions are scheduled on Saturday, early afternoon. Another 6 Educational Sessions are taking place on Sunday and Monday.
Educational Sessions include:
  • ES1. Performance and future of next generation sequencing (what’s next?) (M.A.Quail, M. Snyder)
  • ES2. Prenatal and Preimplantation Genetic Screening (R. Wappner, S. Munné)
  • ES3. Tweeting about Genomics (A. Dijkstra, D. Secko)
  • ES4. Cancer risk in developmental syndromes (A. Riccio, K. Gripp)
  • ES5. Epilepsies (S. Baulac, I. Helbig)
  • ES6. Retinal dystrophies: news and views (F.P.M. Cremers, A. Webster)
  • ES7. NGS in the clinic (C. Wright, C. Gilissen)
  • ES8. Where do we come from? (E. Heyer, M. Kayser)
Further details on educational sessions can be found at
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The ESHG awards prizes of EUR 500.- 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 genetics/genetic therapy
- ESHG Poster Awards 
All young scientists submitting spoken presentations are encouraged to apply. 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 in each topic, which could not be selected for oral presentation will automatically compete for the ESHG Poster Award.
Authors wishing to be considered for these awards should complete the appropriate boxes during abstract submission.
Closing date: February 15, 2013
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A number of conference fellowships will be awarded by the Scientific Programme Committee for applicants from Central and Eastern Europe. Authors wishing to be considered for a fellowship should complete the appropriate box during abstract submission. The nominee must be first author (i.e. presenting author) of an abstract submitted for either oral or poster presentation, and should be not more than six years postdoctoral.
Closing date: February 15, 2013

The ESHG is glad to make available to each European National Human Genetics Society, one fellowship of EUR 800.- (& free registration) for a young researcher (<35 b="b" excellence="excellence" field="field" having="having" her="her" his="his" in="in" member="member" of="of" or="or" past="past" shown="shown" society="society" the="the" year.="year." years="years">The allocations of these fellowships are at the discretion of each National Society
. Please contact your local society for further details and on how to be a candidate. To top
2013 Workshops include:
  • WS01. Diagnostic NGS sequencing, Comparison of software and applications (Joris Veltman & Joris Vermeesch)
  • WS02. Debate: Preimplantation genetic screening (The-Hung Bui)
  • WS03. USCS Genome Browser I (Robert Kuhn)
  • WS04. Dysmorphology 1 (Dian Donnai & Jill Clayton-Smith)
  • WS05. Array CGH (Nicole de Leeuw & Conny van Ravenswaaij-Arts)
  • WS06. Quality assurance  (Els Dequeker, Mike Morris)
  • WS07. Inequalities in Genetic Services (Stanislas Lyonnet & Jörg Schmidtke)
  • WS08. GALAXY (Dave Clements)
  • WS09. Clinical Cancer Genetics Club (Maurizio Genuardi & Dominique Stoppa-Lyonnet)
  • Workshop 10: Dysmorphology 2 (Dian Donnai & Jill Clayton-Smith)
  • Workshop 11:Prenatal diagnostic (Milan Macek & Joris Vermeesch)
  • Workshop 12: DNA Dysmorphology (Hans Scheffer, Ove Bruland & BjørnIvar Haukanes)
  • Workshop 13: Community genetics (Martina Cornel)  
  • Workshop 14: USCS Genome Browser II (Robert Kuhn)
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Online Registration is open. Dedicated fees for post-docs and students are available.
Special rates apply for ESHG members (Join/Renew your membership).
Please note that higher fees apply for on-site registrations.
Registration forms can be found at

Deadline for registration at early fee: March 31, 2013

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The European Human Genetics Conference 2013 will host a large industry exhibition, where the latest technologies will be shown. In addition, there will be a number of company satellites during the conference, always of great interest to the participants.
For further information see the list of exhibitors as to date, as well as the company satellites information.
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All available information can be found on the regularly updated website
European Human Genetics Conference 2013:
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ESHG Conference Flashletter by the European Society of Human Genetics 6/2012 - All rights reserved
Conference Organisation & Abstract Management: ESHG 2013 c/o Vienna Medical Academy, Alserstrasse 4,
1090 Vienna, Austria. T: +43 1 405 13 83 16, F: +43 1 407 82 74, E:
Exhibition, Sponsoring and Commercial Satellites: Rose International, P.O. Box 93260, NL-2509 AG The Hague, The Netherlands. T: +31 70 383 8901, F: +31 70 381 8936, E:
More information on the European Society of Human Genetics
(c) European Society of Human Genetics - Contact: ESHG c/o Vienna Medical Academy, Alser Strasse 4, 1090 Vienna, Austria- conference(at) - T: +43 1 405 13 83 16 - F: +43 1 407 82 74

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