Saturday, June 6, 2015 | |
08.00 | Registration opens |
10.15 - 11.45 | Corporate Satellites |
10.30 - 12.00 | Educational Sessions 1-4 |
ES1. CRISPR-Cas9
ES1.2 CRISPR-Cas9: biological roles, mechanisms, evolution and applications ES2. From Genes to Networks
ES2.2 Gene co-expression networks ES3. Translational Cancer GeneticsES3.1 Inherited and acquired kidney cancers: Opportunities for targeted therapeutic approaches ES3.2 From inherited breast/ovarian cancer to PARP inhibitors and beyond ES4. Care for Rare DiseasesES4.1 Genetic Testing for Rare Diseases ES4.2 European rare disease policies- what does it really mean for planning services? | |
10.30 - 12.00 | Workshop WS01-WS02 |
WS01. A case that changed my life as a geneticistModerators: H. Brunner, M. Macek Jr. WS02. NGS Variant Analysis with GalaxyOrganiser: 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 PL1.2 Deciphering Developmental Disorders PL1.3 Ribonucleotides embedded in genomic DNA | |
16.00 - 16.30 | Coffee Break |
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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; 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; 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; 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; 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; 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; | |
18.00 - 18.30 | Coffee Break |
18.30 - 20.00 | Concurrent Sessions C01-C06 |
See detailed session programme C01 NIPT | |
20.00 - 21.30 | Opening Networking Mixer |