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How to Explore Human

Genotype to Phenotype Relationships

Saturday 31st May 2008

Barcelona, Spainhips

The HGVS organises two one day meetings per year as a forum for scientists to exchange ideas and form collaborations. The meetings are designed to update and increase knowledge of human genome variation and generally attract a stimulating and interesting collection of abstracts in all fields of human genome variation making it an ideal forum to share information and results. We invite members and non-members alike to attend what promises to be a stimulating meeting.

How to Explore Human Genotype to Phenotype Relationships

Genetics research is driven by mankind’s desire to understand what makes us all imageindividually unique. Right now, after several decades of basic research and technology development, the answers to that question could be within our grasp. We already know that human ‘genotypes’ (our DNA sequences) have a major influence upon virtually all human ‘phenotypes’ (e.g., disease, behaviour, drug responses). The challenge, however, is working out what number and combination of genetic variants, in what circumstances, impact each trait of interest. Current strategies and progress will be presented in the HGVS special topic session, entitled “How to Explore Human Genotype to Phenotype Relationships”. Distinguished speakers will report on inherited and somatic mutations, theory and practice, simple and complex variation, and a range of biomedical phenotypes – to illustrate where the field may be heading and how members of audience can best contribute to this fascinating field of research.

Invited Speakers

  • Prof. Stephan Beck, Head of Laboratory, University College London, UK
    - "Reverse Phenotyping: Towards an integrated (epi)genomic approach to complex phenotypes and common disease"

  • Prof. John Burn, Medical Director, Institute of Human Genetics, Newcastle upon Tyne, UK
    -DNA diagnostics: the lessons of the urban motorway

  • Prof. Michael Stratton, Deputy Director, The Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    - Systematic resequencing of the coding exons of the X chromosome in X-linked Mental Retardation

  • Prof. John D. Rioux, Canada Research Chair in Genetics and Genomic Medicine of Inflammation, Associate Professor of Medicine Université de Montréal Montreal Heart Institute, Montreal, Canada
    - Genome-wide association studies in inflammatory diseases - taking stock of what we have learned thus far.


The Human Genome Variation Society invites submissions of abstracts for the Symposium on How to Explore Human Genotype to Phenotype Relationships. There will be two classes of abstracts, those for Genotype to Phenotype and those on general human genome variation. You are welcome to attend the meeting without submitting an abstract. Only those registering are able to submit abstracts. Preference will be given to Genotype to Phenotype abstracts.


Saturday 31st May 2008
8:00AM to 4.00 PM (Registration is from 7:15 am)

Room "Mar"

Hotel Vincci Maritimo
Calle Llull, 340

(for those attending ESHG, the hotel is near (700metres) the CCIB convention centre!)

Fee includes administrative costs, coffee breaks & lunch.

HGVS member: Euro 55 (click here to join, it only costs US$50 )
Non-HGVS member: Euro 85
All students: Euro 55

All costs in Euro.

Register here.