The European Society
of Human Genetics

Saturday, June 12

Saturday, June 12, 2010

Full affiliations are available in the ESHG Programme Planner
10.00Registration opens

12.00 - 13.30

From disease to cytogenetics research - An integrated CNV analysis platform from Oxford Gene Technology

Oxford Gene Technology Satellite

14.00 - 15.30

Educational Sessions

ES1. Genetic Diagnosis of Infertility

ES1.1 Genetics of Female Ovarian Dysfunction
C.B.Fauser, Utrecht, The Netherlands

ES1.2 Genetic Regulation of Spermatogenesis
Sjoerd Repping, Amsterdam, The Netherlands


ES2. Genome Databases

ES2.1 inding your feet in the Genome Database World
Christophe Béroud, Montpellier, France

ES2.2 Browsing Genes and Genomes with Ensembl
Bert Overduin, Hinxton, Cambridge, United Kingdom

ES3. Communication in Clinical Genetics

ES3.1 Communication between patients/families and genetic professionals
Clara Gaff, Victoria, Australia

ES3.2 Families and Genomics: A Biopsychosocial Model for Clinical Practice
John Rolland, Chicago, IL, United States

Routine clinical interpretation of copy number variation


Coding and non-coding transcriptome analysis and targeted re-sequencing of genomic regions of interest

Eurofins MWG Operon Satellite

Current and Future Perspectives in Human Genetics Testing Using a Unique xMAP/xTAG Multiplexing Technology

LUMINEX Satellite


Opening new frontiers in copy number variation studies:  Direct, sensitive measurements of hundreds of copy number variations in a single reaction using molecular barcodes

NanoString Technologies Satellite



15.45 - 16.15

Opening - Welcome Adresses




PL1 Opening Plenary Session


PL1.1 Genetics of cancer predisposition
Lauri Aaltonen, Helsinki, Finland

PL1.2 Peopling of the New World high-Arctic: A Genetic Perspective
Maanasa Raghavan, Copenhagen, Denmark

PL1.3 Monogenic diabetes: The success of molecular genetics for improved diagnosis and treatment
Pal Njolstad, Bergen, Norway

PL1.4 A human protein atlas to study human genetics
Mathias Uhlén, Stockholm, Sweden



18.00 - 18.30

Coffe Break


18.30 - 20.00

Plenary Session PL2: What's New?

from submitted abstracts

PL2.1* The Effect of Translocation-Induced Nuclear Re-organization on Gene Expression
L. Harewood
, F. Schütz, S. Boyle, P. Perry, M. Delorenzi, W. A. Bickmore, A. Reymond

PL2.2* PDZD7 is a modifier of and digenic contributor to retinal disease in Usher syndrome
H. J. Bolz
, I. Ebermann, J. B. Phillips, M. C. Liebau, R. K. Koenekoop, B. Schermer, I. Lopez, E. Schäfer, A. F. Roux, C. Dafinger, A. Bernd, E. Zrenner, M. Claustres, B. Blanco, G. Nürnberg, P. Nürnberg, R. Ruland, M. Westerfield, T. Benzing

PL2.3* The identification of 180 genetic loci involved in adult height variation highlights the complex genetic architecture of polygenic traits
K. Estrada
, G. Lettre, H. Lango, S. I. Berndt, M. N. Weedon, G. R. Abecasis, M. Boehnke, C. Gieger, D. Gudbjartsson, N. L. Heard-Costa, A. U. Jackson, M. I. McCarthy, A. Smith, N. Soranzo, A. G. Uitterlinden, F. Rivadeneira, T. M. Frayling, J. N. Hirschhorn

PL2.4* De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
A. Hoischen
, B. van Bon, C. Gilissen, P. Arts, B. van Lier, M. Steehouwer, P. de Vries, R. de Reuver, N. Wieskamp, G. Mortier, K. Devriendt, M. Z. Amorim, N. Revencu, A. Kidd, M. Barbosa, A. Turner, J. Smith, C. Oley, A. Henderson, I. M. Hayes, E. Thompson, H. G. Brunner, B. B. A. de Vries, J. A. Veltman

PL2.5 Complete genome sequencing and analysis of diploid African-American and Mexican-American genomes: implications for personal ancestry reconstruction and multi-ethnic medical genomics
F. M. De La Vega
, J. D. Degehnardt, S. Musharoff, K. Bryc, J. M. Kidd, V. Seth, S. Stanley, C. Monighetti, E. Levandowsky, M. Barker, A. Brisbin, A. Keinan, A. Clark, C. D. Bustamante

PL2.6 A mutation in the 3'UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.
B. Arveiler
, D. Simon, M. Barillot, B. Laloo, T. Barnetche, C. Rooryck, C. Blanchard, I. Burgelin, M. Marche, I. Coupry, N. Chassaing, B. Gilbert-Dussardier, C. Grosset, D. Lacombe


20.00 - 21.30

Welcome Reception at the Göteborg Convention Centre

Full affiliations are available in the ESHG Programme Planner

To top