Saturday, June 6, 2015

10.15 - 11.45

Corporate Satellites

10.30 - 12.00

Educational Sessions 1-4

ES1. CRISPR-Cas9

ES1.1 Applications of CRISPR-Cas9 for Genome Engineering
Le Cong, United States Talk had to be cancelled

ES1.2 CRISPR-Cas9: biological roles, mechanisms, evolution and applications
Emmanuelle Charpentier, Germany

ES2. From Genes to Networks

ES2.1 Leveraging molecular networks to reveal pathways underlying complex diseases
Daniel Marbach, Switzerland Talk had to be cancelled

ES2.2 Gene co-expression networks
Christina Kiel, Spain (note the change of speaker)

ES3. Translational Cancer Genetics

ES3.1 Inherited and acquired kidney cancers: Opportunities for targeted therapeutic approaches
Maria Flavia Di Renzo, Italy

ES3.2 From inherited breast/ovarian cancer to PARP inhibitors and beyond
William Foulkes, Canada

ES4. Care for Rare Diseases

ES4.1 Genetic Testing for Rare Diseases
Helena Kääriäinen, Finland (note the change of speaker)

ES4.2 European rare disease policies- what does it really mean for planning services?  
Kate Bushby, United Kingdom

10.30 - 12.00

Workshop WS01-WS02

WS01. A case that changed my life as a geneticist 

Moderators: H. Brunner, M. Macek Jr.

WS02. NGS Variant Analysis with Galaxy

Organiser: D. Clements

12.15 - 13.45

Corporate Satellites

14.00 - 14.30

Opening - Welcome Adresses

14.30 - 16.00

PL1 Opening Plenary Session

PL1.1 Chromosome conformation and long-distance gene regulation
Wendy Bickmore, United Kingdom

PL1.2 Deciphering Developmental Disorders
Matthew Hurles, United Kingdom

PL1.3 Ribonucleotides embedded in genomic DNA
Andrew Jackson, United Kingdom

Coffee Break

16.30 - 18.00

Plenary Session PL2: What's New?

from submitted abstracts. Presenters marked with a * are Young Investigator Award Candidates

PL2.1

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

Laura Tomas Roca*, A. Tsaalbi-Shtylik, J.G. Jansen, M.K. Singh, J.A. Epstein, U. Altunoglu, H. Verzijl, L. Soria, E. van Beusekom, T. Roscioli, Z. Iqbal, C. Gilissen, A. Hoischen, A.P.M. de Brouwer, C. Erasmus, D. Schubert, H. Brunner, A. Pérez Aytés, F. Marin, P. Aroca Tejedor, H. Kayserili, A. Carta, N. de Wind, G.W. Padberg, H. van Bokhoven;
Nijmegen, Netherlands

PL2.2

Beyond the ACMG 56: Parental choices and initial results from a comprehensive WGS-based search for predictive secondary variants in children

M S. Meyn, N. Monfared, C. Marshall, D. Merico, D.J. Stavropoulos, R.Z. Hayeems, M. Szego, R. Jobling, M. Gardia, G.D. Bader, M. Brudno, R.D. Cohn, R. Zlotnik-Shaul, C. Shuman, P.N. Ray, S. Bowdin;
Toronto, Canada

PL2.3

Spotlight on the pathogenesis of Kabuki syndrome

N. Bögershausen, I. Tsai, E. Pohl, P. Simsek Kiper, F. Beleggia, F.E. Percin, K. Keupp, A. Matchan, E. Milz, Y. Alanay, H. Kayserili, Y. Liu, S. Banka, A. Kranz, M. Zenker, D. Wieczorek, N. Elcioglu, P. Prontera, S. Lyonnet, T. Meitinger, F. Stewart, D. Donnai, T.M. Strom, K. Boduroglu, G. Yigit, Y. Li, N. Katsanis, Bernd Wollnik;
Cologne, Germany

PL2.4

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

Darío G. Lupiáñez*, K. Kraft, V. Heinrich, P. Krawitz, F. Brancati, E. Klopocki, D. Horn, H. Kayserili, J. Opitz, R. Laxova, F. Santos-Simarro, B. Gilbert-Dussardier8, L. Wittler, M. Borschiwer, S. Haas, M. Osterwalder, M. Franke, B. Timmermann, J. Hecht, M. Spielmann, A. Visel, S. Mundlos;
Berlin, Germany

PL2.5

A germline homozygous loss-of-function mutation in the base excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

Robbert D.A. Weren*, M.J.L. Ligtenberg, C.M. Kets, R.M. de Voer, E.T.P. Verwiel, L. Spruijt, W.A.G. van Zelst-Stams, M.C. Jongmans, C. Gilissen, J.Y. Hehir-Kwa, A. Hoischen, J. Shendure, E.A. Boyle, E.J. Kamping, I.D. Nagtegaal, B.B.J. Tops, F.M. Nagengast, A. Geurts van Kessel, J.H.J.M. van Krieken, R.P. Kuiper, N. Hoogerbrugge;
Nijmegen, Netherlands

PL2.6

The genetic handicap principle: a severely deleterious mutation can be tolerated if the genome-wide mutation load is sufficiently low

Konstantin Popadin, S. Peischl, R. Sailani, A. Letourneau, F. Santoni, M. Garieri, S. Nikolaev, D. Meyer, L. Excoffier, S. Antonarakis;
Geneva, Switzerland

Coffee Break

18.30 - 20.00

Concurrent Sessions C01-C06

See detailed session programme

C01 NIPT
C02 Improvement in genome sequencing and functional studies
C03 Novel genes causing intellectual disability
C04 The many faces of cancer mutations
C05 Cardiovascular disorders
C06 Neuromuscular disorders

20.00 - 21.30

Opening Networking Mixer