The European Society
of Human Genetics

Sunday, June 13

Sunday, June 13, 2010

Full affiliations are available in the ESHG Programme Planner

08.45 - 10.15

Concurrent Symposia S01 - S04

S01. Mosaicism OR Somatic Genome Variation

S01.1 The cradle of constitutional chromosome rearrangements is the cleavage stage embryo
Joris Vermeesch, Leuven, Belgium

S01.2 How Common is Somatic Mosaicism for DNA Copy Number Variations (CNVs)?
Jan P. Dumanski, Uppsala, Sweden

S01.3 Genomic Disorders: Mechanisms and assays for CNV associated with neuropsychiatric and other disease traits
James R. Lupski, Houston, TX, United States


S02. Ethics Related to New Genetic Technologies (Joint Session with EMPAG)

S02.1 Ethical issues in large scale genomics research
Timothy Caulfield, Edmonton Canada

S02.2 Ethical issues in expanded newborn screening
Ellen Wright Clayton, Nashville, TN, United States

S02.3 Ethical issues in PND/PGD
Guido Pennings, Gent, Belgium


S03. Induced Pluripotent Stem Cells and Potential Therapies

S03.1 Human induced pluripotent stem cell based in vitro modeling of Parkinson's disease
Frank Soldner, Cambridge, MA, United States

S03.2 Modeling and treating human genetic disease with induced pluripotent stem (iPS) cells
Angel Raya, Barcelona, Spain

S03.3 Using stem cells to model and treat neurodegenerative diseases
Allison D. Ebert, Madison, WI, United States


S04. Complex Disease

S04.1 From Galton to GWAS: the genetic architecture of complex traits
Peter Visscher, Brisbane Australia

S04.2 Developments in the genetics of Multiple Sclerosis - Progress at last
Stephen Sawcer, Cambridge, United Kingdom

S04.3 Genome-wide association studies in cancer: sorting out the nuggets of truth
Stephen Chanock, Bethesda, MD, United States

Educational Session ES4. Alport Syndrome and Cystic Kidney Disease

ES4.1 Alport Syndrome

Corinne Antignac, Paris, France

ES4.2 Renal cystic disease
Nine Knoers, Nijmegen, The Netherlands

10.15 - 10.45

Coffee Break, Free Poster Viewing, Exhibition

10.45 - 11.15Free Poster Viewing, Exhibition

10.45 - 12.45

Next Generation Gene Discovery using SOLiDTM System

Applied Biosystems Satellite

PyrosequencingTM and HRM - Innovative Technologies setting Standards in Epigenetics and Genetic Research

QIAGEN Satellite


11.15 - 12.15

Poster Viewing with Authors (Odd poster numbers)

12.15 - 13.15Lunch, Free Poster Viewing, Exhibition


Concurrent Sessions C01 - C05

C01. Next Generation Sequencing
C02. Clinical Cytogenetics
C03. Complex Diseases
C04. Sensory Disorders and Neurobiology
C05. Skeletal Disorders

See Session Details



15.00 - 16.30

Workshops W1 - W6

WS1. Dysmorphology Workshop 1 (D. Donnai, J. Clayton-Smith)

WS2. Quality Control (E. Dequeker, M. Morris)
WS3. Genetic Education (P. Farndon)
WS4. Prenatal Diagnosis (T.H. Bui)
WS5. DNA diagnostics - how to make sense from soooo many genes, variants and databases (J. den Dunnen)
WS6. Implications of next generation sequencing for clinical practice - A debate (J. Veltman)

Download Workshop Programmes (as submitted by the organisers)

The next-generation Axiom Genotyping Solution: discovery of new disease associations in less time and with less effort

Affymetrix Satellite

1. Methylation biomarker discovery and validation -combining NimbleGen arrays and LightCyclerTM 480 System qPCR in one workflow

2.Genomes, Exomes and Transcriptomes - Human variation detection using 454 Sequencing

Roche Applied Science Satellite


16.30 - 17.15Coffee Break

17.15 - 18.45

Concurrent Symposia S05 - S08

S05. The Mobile Centromere

S05.1 Neocentromeres in human clinical cases
Andy Choo, Melbourne, Australia

S05.2 Neocentromeres in Candida albicans
Laura Burrack, Minneapolis, MN, United States

S05.3 Centromere repositioning in evolution and in humans
Mariano Rocchi, Bari, Italy

S06. Long Distance Regulation

S06.1 Dysruption of long-distance highly conserved non coding sequences at the SOX9 locus
Stan Lyonnet, Paris, France

S06.2 Clustered gene co-regulation and enhancer sharing can be modulated by developmentally regulated chromatin loops
Jose Luis Gomez-Skarmeta, Sevilla, Spain

S06.3 Far reaching consequences - mechanisms and problems of long range control
Stefan Mundlos, Berlin, Germany

S07. Transgeneration Effects and Epigenetic Programming

S07.1 The impact of the early social environment on the adult epigenome
Moshe Szyf, Montreal, Canada

S07.2 Identifying parent of origin effects in the human genome
Andy Sharp, Geneva, Switzerland

S07.3 Using C. elegans to study chromatin regulators involved in human disease
Isabel J. Latorre, Cambridge, United Kingdom

S08. Psychiatric Genomics

S08.1 Genomic advances in Schizophrenia
Michael Owen, Cardiff, United Kingdom

S08.2 Genome-wide association studies in Autism spectrum disorders
Hakon Hakonarson, Philadelphia, PA, United States

S08.3 Behavioural genetics in mice
Jonathan Flint, Oxford, United Kingdom

Educational Session ES5. Retinitis Pigmentosa and Inherited Deafness

ES5.1 Genetic deafness
Maria Bitner-Glindzicz, London, United Kingdom

ES5.2 Non-syndromic and syndromic retinitis pigmentosa
Hanno Bolz, Cologne, Germany


18.45 - 20.15

Introducing the new real-time PCR system from Applied Biosystems. The biggest advance in qPCR since the q.

Applied Biosystems Satellite

Illumina Sequencing and Genotyping Technology Discussion

Illumina Satellite



19.00 - 20.00

ESHG Membership Meeting

Full affiliations are available in the ESHG Programme Planner

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