The European Society
of Human Genetics



Abstract submission is closed.

In case of questions regarding your abstract, please send an email to conference(at)


Programme Planner

The Programme Planner and Itinerary Builder sponsored by Macrogen enables you:

- to search programme and abstracts by Abstract Title, Author, Keywords and Institutions and Text
- to view abstract text
- to browse and view all sessions
- to pick papers or entire sessions and to add them to your personal itinerary through the meeting. This itinerary can be printed and/or downloaded to a mobile device.

Access the Programme Planner and Itinerary Builder

Note: Most of the conference abstracts are freely available and can be reported from the time they appear on this website.   Any abstracts that will form part of the media programme will not be published until the day of their presentation and will be embargoed to that date.  Embargo dates and times are given on the press releases and should be adhered to. When asking for outside comment on releases before the embargo has lifted, journalists are requested to ensure that those consulted understand and accept the embargo conditions.

Please note the following important point for POSTER sessions:
In order for the personalised programme function to work properly in the itinerary builder and the ESHG Conference App, all posters have to be slotted the day of their discussion (i.e. "poster viewing with authors") although they will be on display for the entire conference.
Therefore all poster session numbers carry an "S" (for Sunday, odd poster numbers) and "M" (for Monday, even poster numbers), e.g. P01-S and P01-M; P02-S and P02-M, etc.
Also note that Poster Sessions are numbered independently from the original submission topics.


Abstracts are also available for download (10 MB pdf).

Notification on Acceptance of Abstracts

Thank you for submitting almost 2,700 abstracts to this year's meeting.

Notifications on Acceptance have been sent out in the week of March 18-22.

Young Investigator Awards

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 Medicine
- 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 18, 2013

Conference Fellowships

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.

The fellowship comprises the waiving of the registration fee, as well as EUR 300.- as contribution towards travel expenses.

Closing date: February 18, 2013

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New Abstract Submission Topics 2013 - Guidelines

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.

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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