Saturday, May 31, 2014 | |
08.30 | Registration opens |
10.15 - 11.45 | Corporate Satellites |
10.30 - 12.00 | Educational Sessions 1-4 |
ES1. The platelets planet: from diagnosis to therapy of inherited thrombocytopeniasES1.1 Genetics of familial forms of thrombocytopenia, Anna Savoia, Italy ES1.2 Diagnosis and management of inherited thrombocytopenias, Carlo L. Balduini, Italy ES2. Genetic prediction scores in common diseases: are they of any value?ES2.1 Using prediction scores in cardiovascular medicine, Samuli Ripatti, Finland ES2.2 The benefits of using genetic information to design prevention trials, Aroon Hingorani, United Kingdom
ES3. What's new in Next Generation Sequencing?ES3.1 Novel sequencing approaches in genetic disease research, Alexander Hoischen, The Netherlands ES3.2 Single cell genome and transcriptome sequencing, Joakim Lundeberg, Sweden ES4. DNA repair and genomic instabilityES4.1 Mammalian mismatch repair error free or error prone, Josef Jiricny, Switzerland ES4.2 Aging and cancer: The impact of DNA damage, Jan H.J. Hoeijmakers, The Netherlands | |
10.30 - 12.00 | Workshop WS01 |
WS01. Disease of the year: Rasopathies (Organiser: Giovanni Neri) | |
12.15 - 13.45 | Corporate Satellites |
14.00 - 14.30 | Opening - Welcome Adresses |
14.30 - 16.00 | PL1 Opening Plenary Session |
PL1.1 Rasopathies, Marco Tartaglia, Italy PL1.2 Evolution of the HD gene, Elena Cattaneo, Italy PL1.3 Genetic engineering of hematopoietic stem cells for the treatment of inherited diseases, Alessandra Biffi, Italy | |
16.00 - 16.30 | Coffee Break |
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16.30 - 18.00 | Plenary Session PL2: What's New? |
PL2.1 Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2 Ivona Aksentijevich, Q. Zhou, A.K. Ombrello, D. Yang, A.V. Zavialov, R. Sood, M. Boehm, D.L. Kastner; PL2.2 Disrupted auto-regulation of SNRPB causes cerebro-costo-mandibular syndrome Danielle C. Lynch*, T. Revil, J. Schwartzentruber, E.J. Bhoj, A.M. Innes, R.E. Lamont, E.G. Lemire, B.N. Chodirker, J.P. Taylor, E.H. Zackai, D.R. McLeod, E.P. Kirk, J. Hoover-Fong, L. Fleming, R. Savarirayan, .. Care4Rare Canada, J. Majewski, A. Jerome-Majewska, J.S. Parboosingh, F.P. Bernier; PL2.3 The First 100 patients diagnosed by whole-exome sequencing through FORGE Canada: Insights for Clinical Translation Sarah L. Sawyer, C.L. Beaulieu, T. Hartley, D. Bulman, J. Majewski, FORGE Canada Consortium, K.M. Boycott; PL2.4 Transcriptomes of individual cells Christelle Borel, P.G. Ferreira, M. Garieri, F.A. Santoni, O. Delaneau, E. Falconnet, P. Ribaux, P. Makrythanasis, M. Guipponi, E.T. Dermitzakis, S.E. Antonarakis; PL2.5 Chromosome X-wide association analysis discovers new loci for complex traits including a height locus not dosage compensated between men and women Taru Tukiainen*, M. Pirinen, A. Sarin, C. Ladenvall, J. Kettunen, T. Lehtimäki, M. Lokki, M. Perola, J. Sinisalo, E. Vlachopoulou, J.G. Eriksson, L. Groop, A. Jula, M. Järvelin, O.T. Raitakari, V. Salomaa, S. Ripatti; PL2.6 Genome sequencing identifies major causes of severe intellectual disability Christian Gilissen*, J.Y. Hehir-Kwa, D.T. Thung, M. Van de Vorst, B.W.M. van Bon, M.H. Willemsen, M. Kwint, I. Janssen, A. Hoischen, R. Leach, R. Klein, R. Tearle, T. Bo, R. Pfundt, H.G. Yntema, B.B.A. De Vries, T. Kleefstra, H.G. Brunner, L.E.L.M. Vissers, J.A. Veltman; *indicates a Young Investigator Award Candidate | |
18.00 - 18.30 | Coffee Break |
18.30 - 20.00 | Concurrent Sessions C01-C06 |
C01. Prenatal testing | |
20.00 - 21.30 | Opening Networking Mixerat the conference venue |