Start Date: 05/03/2014

End Date: 07/03/2014

Cost: TBC

Venue: Cambridge, UK


Wellcome Trust Scientific Conferences

Contact Details:

Jemma Beard
01223 495100


Abstract Deadline: 24 January | Registration Deadline: 3 February Summary The 8th Wellcome Trust Genomic Disorders conference will present an exciting blend of genomic science and clinical medicine. This meeting will bring together scientists and clinicians interested in genomic variation in humans and the mechanisms by which it exerts its phenotypic effects. Genomic Disorders 2014 will discuss the latest findings on the genomic basis of rare disorders as these can provide such powerful insights into human biology. Genome-wide analyses, including array Comparative Genomic Hybridization (aCGH) and Whole Exome Sequencing (WES), have been invaluable in discovering the genetic basis of rare disorders and illustrate the heuristic power of humans as a pioneering organism rather than just another model organism. The meeting will focus on how human genome analysis can best assist future clinical practice and patient care. A particular emphasis of this year’s meeting will be on genomics in reproductive medicine, modelling rare disorders in animal models and cells, and interpreting genomic variants in rare diseases. Scientific programme committee Han Brunner Radboud University Nijmegen Medical Centre, The Netherlands Helen Firth University of Cambridge, UK Matthew Hurles Wellcome Trust Sanger Institute, UK Jim Lupski Baylor College of Medicine, USA Confirmed speakers Fowzan S. Alkuraya King Faisal Specialist Hospital and Research Center, Saudi Arabia Barbara Biesecker NHGRI, USA Kym Boycott University of Ottawa, Canada Fang Chen BGI, China David FitzPatrick University of Edinburgh, UK Barbara Franke Radboud University Nijmegen Medical Centre, The Netherlands Ira Hall University of Virginia, USA Christa Martin Genomic Medicine Institute, Geisinger Health System, USA Shaun Purcell Ichan School of Medicine at Mount Sinai, USA Sharon Terry Genetic Alliance, USA David van Heel Queen Mary University of London, UK Bernd Wollnik CECAD, Germany Further speakers will be announced shortly. Scientific sessions will include: Natural variation and mutational processes Developmental and regulatory genetics Genomics in reproductive medicine Ethical and policy issues in genomic medicine Animal and cellular models of rare disorders Interpretation of genomic variants Translational medicine