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  • ISAC Members - ISAC - Human Variome Project
    Dalgleish Jordan Lerner Ellis Finlay Macrae Ming Qi Raj Ramesar Juergen Reichardt Peter Taschner Mauno Vihinen Michael Watson Martina Witsch Baumgartner Arleen Auerbach Qasim Ayub Mireille Claustres Collet Dandara Johan T den Dunnen Mona El Ruby Aída Falcón de Vargas Marc Greenblatt Ada Hamosh Dhavendra Kumar Rita Inés Nohes de Halac Heidi Rehm Augusto Rojas Martínez Katsushi Tokunaga Thomas Weber Ingrid Winship Navigate Home About Activities Solutions Resources Meetings Blog

    Original URL path: http://www.humanvariomeproject.org/isac/isac-members/ (2016-02-10)
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  • Sir John Burn - Human Variome Project
    in 1991 After 30 years as the leader of a highly successful NHS service and Human Genetics research institute he now combines his clinical and teaching role with being chief investigator of CAPP the international Cancer Prevention programme genetics lead for the UK National Institute of Health Research medical director of the medical device company QuantuMDx ltd and co chair of the Scientific Advisory Board of the Human Variome Project

    Original URL path: http://www.humanvariomeproject.org/isac-members/sir-john-burn.html (2016-02-10)
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  • Garry Cutting - Human Variome Project
    investigates the role of CFTR mutations in phenotypes that overlap with CF chronic rhinosinusitis male infertility and obstructive lung diseases His current work involves the quantification of genetic and non genetic factors to trait variation in CF and the elucidation of interactions among these factors Genome wide linkage and association methods are being used by his group to identify specific genetic modifiers of CF Dr Cutting s research is supported by the National of Heart Lung and Blood Institute the National Institute of Diabetes Digestive and Kidney Disease the U S CF Foundation and the Flight Attendants Medical Research Institute Dr Cutting has a MERIT award from the National Institutes of Health In addition to basic science activities Dr Cutting directs the DNA Diagnostic Laboratory at Johns Hopkins and the Translational Technology Core of the Institute for Clinical Translational Research at Hopkins These translational science laboratories facilitate the development and implementation of clinical genetic tests derived from research discoveries of Hopkins investigators Dr Cutting also directs the Post doctoral Training Program in the Institute of Genetic Medicine that oversees Residency programs in Medical Genetics Pediatrics and Genetics Internal Medicine and Genetics Maternal Fetal Medicine and Genetics and Clinical Laboratory programs

    Original URL path: http://www.humanvariomeproject.org/isac-members/garry-cutting.html (2016-02-10)
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  • Raymond Dalgleish - Human Variome Project
    of London with his degree being awarded in 1980 The next four years were spent as a Fogarty International Research Fellow in the Pulmonary Branch of the National Heart Lung and Blood Institute at the National Institutes of Health Bethesda Maryland USA cloning and analysing the first human collagen genes In 1984 he was appointed to a lectureship in the Department of Genetics University of Leicester UK where he has remained since His research initially focussed on the analysis of genes important in the determination of bone mineral density In 1993 he began a database of human type I collagen mutations that lead to osteogenesis imperfecta OI The database was later expanded to include type III collagen mutations that lead to Ehlers Danlos syndrome EDS type IV The repertoire of genes has been greatly expanded and now comprises 16 genes for OI https oi gene le ac uk and 9 genes for EDS https eds gene le ac uk A key related activity was Raymond s involvement in the development of the Locus Reference Genomic LRG http www lrg sequence org DNA reference sequence format as the basis for the reporting of mutations Raymond is a fromer chair of the

    Original URL path: http://www.humanvariomeproject.org/isac-members/raymond-dalgleish.html (2016-02-10)
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  • Jordan Lerner-Ellis - Human Variome Project
    in molecular diagnostics as currently applied to breast and colon cancer His research is focused on improving genetic testing through greater reliance on new sequencing technologies While completing his PhD in human genetics at McGill University Dr Lerner Ellis discovered or co discovered four genes that cause inborn errors of Vitamin B12 metabolism when mutated He continued his studies at the Children s Hospital in Basel Switzerland before moving on to a postdoctoral fellowship in Molecular Biology at Harvard University the Massachusetts General Hospital and in Medical and Population Genetics at the Broad Institute Following his postdoctoral studies Dr Lerner Ellis completed the Clinical Molecular Genetics training program at Harvard Medical School and is certified as a diplomate of the American Board of Medical Genetics He is currently Head of Advanced Molecular Diagnostics at Toronto s Mount Sinai Hospital His laboratory provides clinical diagnostic services for hereditary breast ovarian and colon cancer and other genetic testing areas for downtown Toronto and the province of Ontario He holds the position of Assistant Professor in the University of Toronto s Department of Laboratory Medicine and Pathobiology and is an Associate at the Ontario Institute for Cancer Research Navigate Home About Activities Solutions

    Original URL path: http://www.humanvariomeproject.org/isac-members/jordan-lerner-ellis.html (2016-02-10)
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  • Finlay Macrae - Human Variome Project
    University of Melbourne The Royal Melbourne Hospital Head Colorectal Medicine and Genetics The Royal Melbourne Hospital Professor Macrae has had a career in translational and clinical research focusing on diseases of the large bowel especially with regard to screening and familial risk of colorectal cancer As lead clinician in the Familial Cancer Clinic at The Royal Melbourne Hospital the state s busiest in familial bowel cancer he is engaged in a range of research projects including SNP based Genome Wide Association studies candidate gene searches in hyperplastic polyposis and screening by MR colonography in mismatch repair gene carriers He is a member of the Australian Cancer Network s recently formulated committee addressing issues of implementation relating to colonoscopy certification and synoptic reporting on behalf of the Australian Government He is a Councillor for the Gastroenterological Society of Australia responsible for Professional Affairs He is Chair of the Hereditary Bowel Cancer Group of The Cancer Council of Victoria currently Secretary to the International Society of Gastrointestinal Hereditary Tumours InSiGHT based in Leiden and London a member of Steering Committee of the US National Institutes of Health Colon Cancer Family Register and International vice chairman of the CAPP organization for randomized controlled

    Original URL path: http://www.humanvariomeproject.org/isac-members/finlay-macrae.html (2016-02-10)
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  • Ming Qi - Human Variome Project
    as Professor and Director of the Center for Genetic and Genomic Medicine at Zhejiang University School of Medicine He is also a Visiting Professor in the Human Genome Center and a PI in the Bejing Genomics Institute at the Chinese Academy of Sciences For the past three years he has organized an October symposium and short course in Medical and Laboratory Applications of Genetics and Genomics in Hangzhou China Navigate

    Original URL path: http://www.humanvariomeproject.org/isac-members/ming-qi.html (2016-02-10)
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  • Raj Ramesar - Human Variome Project
    CANSA s Colorectal Cancer Research Consortium Prof Ramesar is principal investigator on the Retinal Degenerative Disorders research project Apart from being involved directly with several established research projects aimed at elucidating the genetic basis of diseases in South Africa he is currently channeling his energy in setting up research into understanding the genetic basis of the more complex yet common chronic disorders e g hypertension in our populations Raj is

    Original URL path: http://www.humanvariomeproject.org/isac-members/raj-ramesar.html (2016-02-10)
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