2005 Prague - European Society of Human Genetics

Satellite Meetings
Saturday, 7 May 2005, 14.00 – 15.30 hrs – Club A (1 st floor)
Abbott Molecular Diagnostics
The Role of Pre-/Postnatal Molecular Diagnostics and Implications for the Clinic
Chair: M. Montag, Bonn, Germany
Talk 1: New Developments in PGD – The Value of FISH
M. Montag, Bonn, Germany
Talk 2: State of the Art in Pre-/Postnatal Diagnostic Testing
B. Eiben, Essen, Germany
Talk 3: Improved Testing for Fragile X – FMR1 Triplet Repeat Detection by PCR
M.L. Short, Alameda, USA
Sunday, 8 May 2005, 11.15 – 12.45 hrs – Club A (1 st floor)
GE Healthcare (formerly Amersham Biosciences)
Whole Genome Amplification and Array CGH in Cancer Diagnosis and Genetic Testing
Human cancer and genetic defects are often caused by DNA copy number changes. These changes can be
mapped by comparing genomes of normal and diseased cells: comparative genome hybridisation or CGH.
Here we demonstrate the use of array CGH to detect different types of cancer, and constitutional defects, in both
research and clinical settings. Our satellite workshop will give you an overview of whole genome amplification,
sample preparation, labelling and analysis in array CGH.
Register at booth C-484 to attend the GE Healthcare satellite meeting, ‘Whole Genome Amplification and Array
CGH in Cancer Diagnosis and Genetic Testing’, on Sunday 8 May at 11.15-12.45 hrs.
For more information, please visit www.genomiphi.com.
Sunday, 8 May 2005, 11.15 – 12.45 hrs – Chamber Hall (3 rd floor)
Genzyme
The Importance of Early Diagnosis of Genetic Metabolic Disorders
11.15 Introduction
Prof. J. Zeman, Charles University, Department of Pediatrics, Prague, Czech Republic (Chairman)
11.20 Early diagnosis of MPS I and Fabry disease
Prof.dr. F. A. Wijburg, Academic Medical Centre, Department of Paediatrics, Amsterdam, The Netherlands
11.45 Diagnostic strategies for lysosomal storage disorders
Prof. B. Winchester, Institute of Child Health, Division of Biochemistry & Metabolism, London, United
Kingdom
12.10 Enzyme replacement therapy in treatable lysosomal storage disorders
Dr. R. Desnick, Mount Sinai School of Medicine of New York University, Department of Human Genetics,
New York, USA
12.30 Panel discussion
12.40 Summary and conclusions
Prof. J. Zeman
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