Saturday, May 31, 2014

10.15 - 11.45

Corporate Satellites

10.30 - 12.00

Educational Sessions 1-4

ES1. The platelets planet: from diagnosis to therapy of inherited thrombocytopenias

ES1.1 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 instability    

ES4.1 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)

 See detailed programme

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

Coffee Break

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;
Bethesda, United States

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;
Calgary, Canada

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;
Ottawa, Canada

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;
Geneva, Switzerland

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;
Boston, United States

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;
Nijmegen, Netherlands

*indicates a Young Investigator Award Candidate

Coffee Break

18.30 - 20.00

Concurrent Sessions C01-C06

C01. Prenatal testing
C02. Personalized medicine and pharmacogenomics
C03. Intellectual disability
C04. Cardiovascular disorders 
C05. Genes and development 1
C06. Functional and computational genomics

See detailed programme

20.00 - 21.30

Opening Networking Mixer

at the conference venue