The ESHG invites you to submit abstracts for inclusion in this year’s programme. Abstract submission is now open. The deadline for submission is Monday, February 11, 2019, 24.00 hrs CET, no extention, no exceptions.

Important Information on the Selection Process

All abstracts are peer-reviewed and ranked on the basis of scientific merit by experts in the category selected. The Scientific Program Committee uses these rankings to develop the scientific sessions. Abstracts are assigned to either plenary, parallel, or poster sessions.

The ESHG meetings have currently 3 types of acceptance for submissions:

Spoken presentation in a concurrent or plenary session
Poster presentation in one of the poster sessions
Electronic Poster presentation: in the electronic poster area


  • The presentation at the meeting will be the condition for the publication of the abstract in the electronic supplement of the European Journal of Human Genetics.
  • By submitting an abstract you agree that your personal data are being saved and used by the organiser in order to process your submission, enable the presentation at the meeting and the publication of the abstract.
  • You may be presenting author of only one paper, but co-author of any number of abstracts.
  • Multiple submissions with identical presenting authors will be automatically rejected.
  • Identical submissions from different first authors will also be automatically rejected.
  • Abstracts containing no results or structure will be rejected.

ESHG Abstract Submission Topics 2019 – Where does my abstract fit?

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 (1-10) 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.
Topics 19 – 24 are reserved for previous EMPAG topics. EMPAG has now become an integral and yearly part of the programme, and covers general issues of genetic counselling, education and public services, psychological, ethical and legal issues.

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.


01. Reproductive Genetics/Prenatal Genetics
02. Sensory disorders (eye, ear, pain)
03. Internal organs & endocrinology (lung, kidney, liver, gastrointestinal)
04. Skeletal, connective tissue, ectodermal and skin disorders
05. Cardiovascular disorders
06. Metabolic and mitochondrial disorders
07. Immunology and hematopoietic system
08. Intellectual Disability
09. 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/Services/Education
20. Psychological and social issues in genetics
21. Lay beliefs and public understanding of genetics / Access to genetic services
22. Ethical issues in genetics
23. Legal implications of advances in genetics
24. Other relevant EMPAG issues in genetics

Deadline for submission: Monday, February 11, 2019, 24.00 hrs Central European Time –
No extension, no exceptions!
Proceed to Online Submission