The European Society
of Human Genetics

Workshops 01-04

Workshops 01-04 - Saturday, 10.30 - 12.00 hrs

Workshop outlines are published as submitted by the organisers. Note that the content of the workshop is under the sole responsibility of the respective workshop organisers.

W01. Big data in human genetics: opportunities and challenges?

Organisers: Kristel van Steen, Bertram Müller-Myhsok
Room 112

Personalized Medicine has received increasing interest over the last years, not only from the scientific community but also from governments and the general public. Its aim is to combine genetic, clinical, and environmental data to improve medical diagnosis and disease treatment, tailored to each individual. In this workshop we give an overview of the main challenges in this field, e.g., how to deal with patient heterogeneity in a highly dimensional space, how to obtain easy-to-interpret models for highly complex biological scenarios, and how to generalize/validate discoveries and guarantee their replicability. The audience is invited to join us in a brainstorming exercise to overcome some of these challenges. Cutting-edge seed idea solutions are provided from a Machine Learning and Statistical Genetics points of view.


· Introduction to Personalized Medicine: challenges and opportunities
(Kristel Van Steen, GIGA-R Medical Genomics –BIO3 Unit, University of Liège, Liège, Belgium)

· Selected presentations on Big Data analysis problems, focusing on predication and data exploration
(Marie Curie Initial Training Network “Machine Learning for Personalized Medicine”)


· Deep Learning for Personalized Medicine
(Cristóbal Esteban, Siemens, Munich, Germany)

· Using information of related traits to improve genetic predictions
(Daniel Urda, Pharmatics, City of Edinburgh, UK)

· Pairwise mRNA comparison reveals high biomedical classification accuracy
(Yunlong Jiao, Mines ParisTech in Paris, France)

Data Exploration

· Probabilistic Epigenetic Landscapes in Single Cell Gene Expression Experiments
(Max Zwiessele, Sheffield University, UK)

· Bayesian modeling for biomarker discovery in clinical trials
(Melanie F. Pradier, University Carlos III in Madrid, Madrid, Spain)

· Optimizing genetic association studies
(Ramouna Fouladi, GIGA-R Medical Genomics – BIO3 Unit, University of Liège, Liège, Belgium / Yuanlong Liu, INSERM, Paris, France)

· Take-home messages and future perspectives for human geneticists
(Bertram Müller-Myhsok, MPI for psychiatry - Statistical Genetics, Munich, Germany & Institute of Translational Medicine, University of Liverpool, UK )

W02. A case that changed my life as a geneticist

Organisers: H. Brunner; M. Macek Jr.
Room 117

For the second time, the ESHG conference in Barcelona 2016 will has a session dedicated to storytelling in Medical Genetics.

We have invited professionals in medical genetics to submit a short video in which they describe an event or moment when genetics made a difference and had a profound impact on how they see the field of Medical Genetics.
These stories can be happy, sad, informative or funny.  The only requirement was that they are real experiences of yourself or your colleagues. We have selected 6 geneticists to tell their story and to be interviewed by the moderators:

  • "A motivating debut in genetics", Iulia Teodora Perva, Timisoara, Romania
  • "Sometimes less is more", Hande Kaymakçalan Çelebiler, Istanbul, Turkey
  • "The Great Crossing-over in a great family", Anna Voitovich, Saint-Petersburg, Russian Federation
  • "A self-confidence gain story during medical genetics residency", Asli Ece Solmaz, Izmir, Turkey
  • "From Death to Life/Back to the future", Sehime Temel, Bursa, Turkey
  • "Just a Simple Case", Ramona Cristina Ababei, Iasi, Romania

W03. Career development and funding opportunities for young investigators

Organiser: Lude Franke
Room: 113+114

You are young, love genetics research, and wonder how to further develop your career and how to get grant funding? In this workshop various people share their experience how to do this: Mario Siomos from the European Research Council will give an overview what it takes to apply successfully for an ERC Starting Grant or ERC Consolidator Grant.  Gosia Trynka (Wellcome Trust Sanger Institute) and Tonu Esko (Estonian Genome Centre) share their experience in developing their early career, while ERC Advanced Grant researcher Cisca Wijmenga (University Medical Centre Groningen) will discuss what it takes to build a lasting career in the field of genetics.

W04. Pharmacogenomics

Organisers: William Newman, Cristina Rodriguez-Antona
Room: 118+119

This workshop will provide an overview of the current state of pharmacogenetics  (germ line variation predicting drug response) in clinical practice. We will then explore how whole exome and genome testing provides an opportunity for pre-emptive pharmacogenetic testing.  Which information should be used from genomic sequencing for patient benefit?
An interactive workshop will consider these exciting opportunities.

Speaker sequence:

William Newman (Manchester, UK) (5 mins)

Cristina Rodriguez-Antona (CNIO, Madrid) (15 mins)

Marieke Coenen (Nijmegen, The Netherlands) (20 mins)

Leslie Biesecker (NIH, USA) (20 mins)

Open floor discussion (15 mins)

Electronic vote and round up (15 mins)