1st AnEUploidy Workshop
Geneva, September 12-14, 2008
September 12, 2008, Afternoon
14:00-16:00 Registration
Welcome address
Alexandre Reymond
15:55-16:00
The Center for Integrative Genomics, Lausanne, Switzerland
Keynote address
Stylianos E. Antonarakis
16:00-16:30 University of Geneva, Switzerland
The renaissance of aneuploidy: genome dosage and function
CNV maps and new syndromes
Chair: Xavier Estivill, CRG, Barcelona, Spain
Evan E. Eichler
16:30-17:00 University of Washington, Seattle, USA
Sequencing Structural Variation and Links to Human Disease
Donald Conrad
17:00-17:30 The Sanger Institute, Hinxton, UK
The origins, scale, and significance of copy number variation
17:30-17:45
17:45-18:00
18:00-18:15
18:15-18:30
19:00
Lisenka Vissers
Radboud University Nijmegen Medical Centre, Holland
High-resolution breakpoint mapping of CNVs
Xavier Estivill
Centre de Regulacio Genomica, Barcelona, Spain
Population and Functional Signatures of Structural Variation in the Human
Genome
Louise Harewood
The Center for Integrative Genomics, Lausanne, Switzerland
The Effect of Chromosomal Rearrangements on Gene Expression
Olga Zilina
Institute of Molecular and Cell Biology, University of Tartu
Detection of genomic copy number changes in Estonian patients with mental
retardation
Dinner at the hotel “Chavannes-de-Bogis” (http://www.hotel-chavannes.ch/)
September 13, 2008, Morning
07:00-09:00
09:00-09:30
09:30-09:45
09:45-10:00
10:00-10:30
10:30-10:45
10:45-11:15
11:15-11:30
11:30-12:00
12:00-12:30
12:30-12:45
13:00-14:00
Breakfast
HSA21 genes and genomics
Chair: Stylianos E. Antonarakis, University of Geneva, Switzerland
Katheleen Gardiner
University of Colorado, Denver, USA
Pathway analysis for the cognitive features of Down Syndrome
Gilda Cobellis
TIGEM, Naples, Italy
Studying gene dosage imbalance in mouse Embryonic Stem cells: over-expression
of HSA21 genes
Yoram Groner
The Weizmann Institute, Rehovot, Israel
Regulatory networks of HSA21 regulators
Marie-Laure Yaspo
Max Planck Institute, Berlin, Germany
A Global View of Gene Activity and Alternative Splicing by Deep Sequencing of the
Human Transcriptome
Andrew Sharp
University of Geneva, Switzerland
Developing an Imprinting Map of the Human Genome
Coffee break
Microdeletions and microduplications
Chair: Alexandre Reymond, University of Lausanne, Switzerland
Antonio Baldini
TIGEM, Naples, Italy
TBX1 and 22q
James R. Lupski
Baylor College of Medicine, Houston, USA
Genomic disorders: mechanisms for copy-number variation (CNV) and clinical
implementation of high-resolution genome analysis
Uta Francke
Stanford University, Palo Alto, USA
Dissecting microdeletions to find the haploinsufficient genes
Luis Perez Jurado
Universitat Pompeu Fabra, Barcelona, Spain
Effects of NCF1 dosage and antioxidant therapy on the elastin arteriopathy of
Williams-Beuren Syndrome
Lunch at the hotel “Chavannes-de-Bogis” (http://www.hotel-chavannes.ch/)
September 13, 2008, Afternoon
CNV and phenotypes
Chair: Han Brunner, Radboud University Nijmegen Medical Centre, Holland
14:00-14:30
14:30-14:45
14:45-15:15
15:15-15:30
15:30-16:00
16:00-16:15
16:15-16:45
16:45-17:15
17:15-17:30
17:30-18:00
18:00-18:15
18:15-18:30
18:30-19:20
19:30-22:30
Steve W. Scherer
The Hospital for Sick Children, Toronto, Canada
Large cohorts, small patients: genomic variation studies in pediatric
developmental disorders
Joris Veltman
Radboud University Nijmegen Medical Centre, Holland
Rare de novo CNVs: Matching mouse gene knockout models to human mental
retardation
Orsetta Zuffardi
Università degli Studi di Pavia, Pavia, Italy
inv dup del: a rearrangement for all seasons??
Benjamin Rodriguez
Universitat Pompeu Fabra, Barcelona, Spain
Association of Copy Number Variation at 22q11.23 with Schizophrenia
Emmanouil T. Dermitzakis
The Sanger Institute, Hinxton, UK
Population genomics of human gene expression
Alexandre Reymond
The Center for Integrative Genomics, Lausanne, Switzerland
Segmental copy number variation shapes tissue transcriptomes
Coffee break
Mouse models of Trisomy 21
Chair: Elizabeth Fisher, Institute of Neurology, London
Roger H. Reeves
Johns Hopkins University, Baltimore, USA
Getting to the heart of Down syndrome research
Yann Herault
CNRS, Orléans, France
A new trisomic mouse model for the Abcg1-U2af1 region with behavioral
phenotypes
Y. Eugene Yu
Roswell Park Cancer Institute, Buffalo, USA
Engineering mouse chromosomes to model human genomic disorders
Clara Moore
Franklin & Marshall College, Lancaster, PA, USA
Characterization of Cardiovascular Development in the Murine Ts65Dn Down
Syndrome Model
Mara Dierssen
Centre de Regulacio Genomica, Barcelona, Spain
The Yin and Yan of Down syndrome: mouse models for specific genetic intervals
reveal unexpected pathways for learning and memory
Poster session
Wine tasting and dinner at the “Château de Luins” (http://www.chateau-deluins.ch/)
September 14, 2008, Morning
07:00-09:00
09:00-09:15
Breakfast
Mice models of Trisomy 21 and Neurology
Chair: Yann Herault, CNRS, Orléans, France
Marie-Claude Potier
CNRS, Paris, France
Neocortical precursor cells of embryonic Down syndrome Ts1Cje mice cultured in
vitro exhibit proliferation deficits and differential gene expression
09:15-09:30
Victor Tybulewicz
Medical Research Council, London, UK
The Tc1 mouse model of Down Syndrome
09:30-09:45
Larysa Zynyuk
Bristol University, Bristol, UK
Hippocampal activity in the Tc1 mouse model of Down Syndrome
09:45-10:00
10:00-10:15
10:15-10:45
Samantha Line
Department of Experimental Psychology, Oxford, UK
An aneuploid mouse which models Down Syndrome displays deficits in spatial
working memory and motor coordination
Mariona Arbonés
Centre de Regulacio Genomica, Barcelona, Spain
The protein kinase DYRK1A regulates caspase-9 mediated developmental cell
death in the central nervous system
Coffee break
Trisomy 21 Genes, Phenotypes and Therapies
Chair: Roger H. Reeves, Johns Hopkins University, Baltimore, USA
10:45-11:15
11:15-11:30
11:30-12:00
12:00-12:15
12:15-12:30
12:30-13:30
13:30-14:30
Craig Garner
Stanford University, Palo Alto, USA
GABAA Receptor Antagonists based therapies for normalizing cognition in Down
Syndrome
Krisztina Arató
Centre de Regulacio Genomica, Barcelona, Spain
The protein kinase DYRK1A functionally interacts with the Nemo-like kinase NLK
Chengbiao Wu
Stanford University, Palo Alto, USA
A Mechanistic Study of NGF Transport Deficit in Down Syndrome
Jean-Maurice Delabar
Université Paris 7, France
Transcriptome signature of congenital heart defect in LCLs from Down syndrome
patients
Dean Nizetic
University of London, UK
DYRK1A dosage imbalance perturbs NRSF/REST levels de-regulating pluripotency
and embryonic stem cell fate in Down syndrome
Lunch at the hotel “Chavannes-de-Bogis” (http://www.hotel-chavannes.ch/)
Roundtable discussion on patient recruitment, ascertainment and biobanking