tailieunhanh - Báo cáo y học: "Human genetics moves from clinic to bench - and back"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Human genetics moves from clinic to bench - and back. | Meeting report Human genetics moves from clinic to bench - and back Miroslava Ogorelkova and Xavier Estivill Addresses Genes and Disease Program Center for Genomic Regulation CRG and Department of Experimental and Life Science Pompeu Fabra University UPF Barcelona Biomedical Research Park Barcelona 08003 Spain. National Center of Genotyping CEGEN Barcelona 08003 Spain. Correspondence Miroslava Ogorelkova. E-mail . Xavier Estivill. E-mail Published 31 August 2005 Genome Biology 2005 6 343 doi gb-2005-6-9-343 The electronic version of this article is the complete one and can be found online at http 2005 6 9 343 2005 BioMed Central Ltd A report on the European Society of Human Genetics Conference 2005 Prague Czech Republic 7-10 May 2005. As in previous years this year s European Society of Human Genetics Conference covered a broad and diverse range of topics in clinical and basic human molecular genetics addressing the interests of clinicians cytogeneticists molecular biologists population geneticists and bioinformaticians. We will focus here on some of the outstanding presentations on single-gene and polygenic diseases high-throughput technologies and data analysis the molecular genetics of longevity and ageing functions of non-coding DNA segmental duplications and diagnostic tools and development of therapies. From single-gene diseases to complex disorders A number of novel genes involved in the variant pathology of disorders with known single-gene genetic determinants were reported. Regina Bendix-Waltes Hannover Medical School Hannover Germany reported that a deficiency of the DNA-repair protein Rad50 as the result of a hypomorphic germline mutation in the RAD50 gene caused a variant form of the Nijmegen breakage syndrome a disease usually caused by mutations in another DNA-repair gene and characterized by chromosomal instability. Anna Benet-Pagès Institute of Human Genetics Munich Germany .