Copy number variation and genomic alterations in health and disease
November 28-29, 2008, Athens, Greece
Click here to download the scientific program.
Chromosome analysis remains one of the most commonly performed diagnostic genetic tests. At the cytological level, banded human chromosomes show a consistent pattern in clinically healthy individuals. With the advent of array-based comparative genomic hybridization (array-CGH), which allows analysis of the genome at a significantly higher resolution than previously possible, humans were shown to be much more genetically variable. Indeed, the genomes of unrelated individuals can differ from one another with respect to the copy number of thousands of loci. These submicroscopic copy number variants (CNVs) are intriguing to cytogeneticists, who have relied on a standardized genome, represented at the cytogenetic level as the human karyotype. A CNV is a DNA segment, longer than 1 kb, with a variable copy number compared with a reference genome. The definition makes no reference to the clinical impact of a given genomic imbalance, and CNVs are used to describe copy number differences in studies of both disease and normal controls as well as imbalances that cause well known microdeletion and microduplication syndromes.
The Institute of Biomedical Genomics Research recognizes the new challenges raised by the array-CGH technology and organizes the 1st GOLDEN HELIX Symposium on ‘Copy number variation and genomic alterations in health and disease’ to take place in Athens, Greece, end of November 2008. The Symposium includes lectures by 20 international leading scientists in the field and covers all aspects of this exciting new field, from technologies and population genomics, through chromosomal and other disorders, to validation and development of a uniform aCGH design.
CONFIRMED SPEAKERS
Stylianos E. Antonarakis,
Geneva, Switzerland
Emmanouil T. Dermitzakis,
Cambridge, United Kingdom
Xavier Estivill, Barcelona,
Spain
Heike Fiegler, West Sussex,
United Kingdom
Jochen B. Geigl,
Graz, Austria
Sakari Knuutila, Helsinki,
Finland
Cedric Le Caignec, Nantes,
France
David H. Ledbetter, Atlanta, GA, United States
Shane E. McCarthy, Cold Spring Harbor, NY, United States
Philippos C. Patsalis, Nicosia, Cyprus
Luis A. Perez-Jurado,
Barcelona, Spain
Richard Redon, Cambridge,
United Kingdom
Corrado Romano, Troina,
Italy
Jacqueline Schoumans, Stockholm,
Sweden
Michael R. Speicher,
Graz, Austria
Holger Toennies, Kiel, Germany
Joris A. Veltman, Nijmegen, The Netherlands
Joris R. Vermeesch, Leuven, Belgium
Lisenka E. Vissers, Nijmegen, The Netherlands
Bert B. de Vries, Nijmegen, The Netherlands
Bauke Ylstra, Amsterdam, The Netherlands
Marcella Zollino, Roma, Italy
Orsetta Zuffardi, Pavia, Italy
Venue
DIVANI Caravel Hotel *****, A Member of the Leading Hotels of the World
Vas Alexandrou Avenue, GR-16121, Athens, Greece
Telephone: +30-2107207000
Registration
Registration for the 1st GOLDEN HELIX symposium “Copy number variation and genomic alterations in health and disease” is now open. Click here to access the online registration form.
Under the auspices of the Hellenic Ministry of Health
and the Hellenic Society of Paediatrics
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Sponsored by:
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