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  • Augusto Rojas Martínez - Human Variome Project
    Human Genetics AMGH www amgh org mx 2009 2010 President Latin American Network of Human Genetics RELAGH www relagh org 2011 2013 Grades M D Escuela Colombiana de Medicina Bogotá Colombia 1985 Master in Human Genetics Universidad de Guadalajara Guadalajara Mexico 1991 D Sc In Molecular Biology School of Medicine UANL Monterrey Mexico 2000 Postdoctoral training Center for Cell and Gene Therapy Baylor College of Medicine Houston EE UU 1998 Lines of research Gene and cell therapy human genetics in Latin America and molecular biology of cancer Funding grants University 8 National Council of Science and Technology CONACYT Mexico 7 International CSIC Spain UCMexus US 7FP European Commission NIH US 4 Published articles 56 indexed in JCR ISI Thompson Reuthers 19 not indexed Last articles 2014 Ludwig KU et al Evaluating eight newly identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a mesoamerican population Birth Defects Res A Clin Mol Teratol 100 43 47 2014 Sánchez Domínguez CN et al The tumor necrosis factor α 308A G polymorphism is associated with cystic fibrosis in Mexican patients PLoS One 9 e90945 2014 Ludwig K et al Strong support for association of variants around FOXE1 and orofacial clefting J Dental Res 93 376 381 2014 Lapunzina P et al Impact of NGS in the medical sciences Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies Genet Mol Biol 37 1 Suppl 241 249 2014 Rojas Martínez A et al RELAGH The challenge of having a scientific network in Latin America An account from the presidents Genet Mol Biol 37 1 Suppl 305 309 2014 Penchaszadeh VB et al A Tribute to José María Chema Cantú Genet Mol Biol 37 1 Suppl 310 314 2014 Castro Rojas C et

    Original URL path: http://www.humanvariomeproject.org/isac-members/augusto-rojas-martinez.html (2016-02-10)
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  • Katsushi Tokunaga - Human Variome Project
    Medicine Faculty of Medicine University of Tokyo 1992 1995 Head First Research Section Japanese Red Cross Central Blood Center 1995 present Professor Department of Human Genetics Graduate School of Medicine The University of Tokyo Journal Editorial Board Memberships Editor in Chief Journal of Human Genetics Advisory Editor Editorial Board Immunogenetics Tissue Antigens International Journal of Immunogenetics PeerJ Selected Peer Reviewed Publications Nakamura M et al Genome wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in Japanese Am J Hum Genet 91 721 728 2012 Okamoto K Tokunaga K et al Common variation in GPC5 is associated with acquired nephrotic syndrome Nat Genet 43 459 463 2011 Saito T et al Transcriptional regulation of endochondral ossification by HIF 2alpha during skeletal growth and osteoarthritis development Nat Med 16 678 686 2010 HUGO Pan Asian SNP Consortium Mapping human genetic diversity in Asia Science 326 1541 1545 2009 Tanaka Y et al Genome wide association of IL28B with response to pegylated interferon alpha and ribavirin therapy for chronic hepatitis C Nat Genet 41 1105 1109 2009 Miyagawa T et al Variant between CPT1B and CHKB associated with susceptibility to narcolepsy Nat Genet 40 1324 1328 2008 Yoshiura K et al A SNP in the ABCC11 gene is the determinant of human earwax type Nat Genet 38 324 330 2006 Omi K et al CD36 polymorphism is associated with protection from cerebral malaria Am J Hum Genet 72 364 374 2003 Kobayashi K et al An ancient retrotransposal insertion causes Fukuyama type congenital muscular dystrophy Nature 394 388 392 1998 Wang L et al Polymorphic microsatellite markers for the diagnosis of graft versus host disease N Engl J Med 330 398 401 1994 Uchigata Y et al Strong association of insulin autoimmune syndrome with HLA DR4 Lancet

    Original URL path: http://www.humanvariomeproject.org/isac-members/katsushi-tokunaga.html (2016-02-10)
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  • Thomas Weber - Human Variome Project
    and waiting family members during extensive surgical procedures To enhance quality assurance and surgical outcomes he has designed an objective analytic analysis of response and completion times of ancillary service response to requests from the Surgical service including radiology cardiology and infectious disease He has also recently led the full integration of the Manhattan VA Surgical Service into the Brooklyn VA Medical Center following the Hurricane Sandy evacuation of all Manhattan VA patients and staff to the Brooklyn Campus on October 28 th 2012 and their return to Manhattan 6 months later in May 2013 Dr Weber is a recent member of the Board of Governors of the American College of Surgeons He is an American Cancer Society Research Scholar an NIH funded scientific investigator and a member of the editorial boards of the Journal of Clinical Oncology and Annals of Surgical Oncology Dr Weber is Chair Emeritus of the National Colorectal Cancer Round Table www nccrt org which is sponsored by the Centers for Disease Control and the American Cancer Society He is a recent past President and current Council member of the Collaborative Group of the Americas for the study of hereditary colorectal cancer www cgaicc com Dr Weber is a recent Co Chair and now Special Advisor to the NYC Health Department sponsored Citywide Colorectal Cancer Control Coalition C5 He has published extensively on hereditary colorectal cancer and is a frequent invited speaker on that subject at national and international meetings He is an active member of the Human Variome Project a global effort to study the contribution of genetic variation to Human disease including cancer www humanvariome org Dr Weber is the Site Director for the SUNY Downstate Surgical Residency Program and the School of Medicine 3 rd year Surgical Clerkship He also Directs the internationally

    Original URL path: http://www.humanvariomeproject.org/isac-members/thomas-weber.html (2016-02-10)
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  • Ingrid Winship - Human Variome Project
    Genetics at the University of Melbourne and the Executive Director of Research for Melbourne Health Professor Winship completed her medical training and postgraduate training in genetics and dermatology at the University of Cape Town followed by a combined academic and clinical position there In 1994 she joined the University of Auckland where she later became Professor of Clinical Genetics Associate Dean Research and Clinical Director of the Northern Regional Genetic Service Professor Winship has a wide range of clinical and research interests in inherited disorders particularly those with adult onset including familial cancer and where foreknowledge of genotype may influence clinical or lifestyle measures to create positive patient outcomes She has experience in gene discovery and in the translation of discovery into clinical practice She has also highlighted the societal implications with research into the ethical legal cultural and psychosocial domains of genetic technology Professor Winship is currently a member of the Victorian Cancer Agency the Board of the Walter Eliza Hall Institute the Peter Doherty Institute Council the Steering Committee of the Melbourne Genomic Health Alliance and the Kinghorn Centre for Clinical Genomics Strategic Advisory Board She is also a member of the NHMRC Human Genetic Advisory Committee Navigate

    Original URL path: http://www.humanvariomeproject.org/isac-members/ingrid-winship.html (2016-02-10)
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  • Former ISAC Members - ISAC - Human Variome Project
    Gene Disease Specific Database Advisory Council Operations Scientific Directorates International Coordinating Office Funding Support Home About International Scientific Advisory Committee Former ISAC Members Former ISAC Members Richard Cotton Donna Maglott Runlin Ma Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap Privacy Policy Search Login Contact Us Contact the International Coordinating Office Human Variome Project International Ltd Level 1 200 Berkeley Street University of Melbourne Victoria

    Original URL path: http://www.humanvariomeproject.org/isac/former-isac-members/ (2016-02-10)
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  • Richard Cotton - Human Variome Project
    executing myeloma studies conceiving affinity adsorbents for PAH phenylalanine hydroxylase the enzyme deficient in PKU DHPR di hydro folate reductase also involved in PKU as well as contributing to tests that are now applied worldwide to all newborns being screened for this disease He also conceived the widely used tetrahydrobiopterin BH4 load test to identify the serious genetic variants involved in PKU This work has since been investigated as a potential treatment for heart disease He is also the inventor of the chemical cleavage and enzyme cleavage mutation detection methods at this time the most accurate methods to detect DNA mutations Professor Cotton encouraged the development of Mutation Detection as a distinct field of endeavour in genetics and has written extensively on the subject In 1986 Richard Cotton together with Dr David Danks founded The Murdoch Institute now the Murdoch Childrens Research Institute at the Royal Children s Hospital in Melbourne bringing genetic research to Australia Their vision for an independent genetic research institute has since grown from a handful of researchers to become a world class centre of genetics research and clinical genetics services In 1991 Professor Cotton initiated the biennial Mutation Detection Conferences and Workshops These events bring together the world s leading scientists in the fields of mutation detection to exchange ideas and explore further ways of developing these technologies as well as introduce these technologies and techniques to young scientists around the world The Human Variome Project sharing data reducing disease In 1992 Richard Cotton founded the scientific journal Human Mutation which has since grown to be a top 20 journal in the category of Genetics and Heredity As he tells it he founded the journal because he thought it was absurd that researchers and doctors had no place to report and check the severity of the mutations they found in their patients The establishment of Human Mutation lead Professor Richard Cotton and colleagues to begin efforts to unify the field and make the collection of genetic variation information systematic standardized and complete across all genes In 1996 to further stimulate activity in this area Professor Cotton established the Human Genome Organization Mutation Database Initiative which in 2001 became the Human Genome Variation Society In the early 2000s closely following the completion of the Human Genome Project it became clear that a more active and more internationally focused effort was required to enable the systematic collection curation interpretation and sharing of genetic variation information From this realization the Human Variome Project emerged The Human Variome Project was established in Melbourne Australia in 2006 The delegates of that first meeting included the world s top geneticists clinicians and bioinformaticians and representatives of the World Health Organisation OECD European Commission United Nations Educational Scientific and Cultural Organisation March of Dimes Centers for Disease Control and Prevention some two dozen international genetics bodies and numerous genetics journals Since then the Human Variome Project has held a meeting of its Consortium every two years The Consortium has a current membership

    Original URL path: http://www.humanvariomeproject.org/former-isac-members/richard-cotton.html (2016-02-10)
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  • Runlin Ma - Human Variome Project
    Bachelors Degree major plant protection in 1978 then went to the United States and obtained a PhD in insect biochemistry at Kansas State University He went on to do post doctoral work at the University of Illinois in the molecular genetics field He went back to China in 1997 and worked as a senior scientist at the China Institute of Genetics He is now a professor and a PhD supervisor in the National Key Laboratory of Molecular Developmental Biology Institute of Genetics and Developmental Biology Chinese Academy of Sciences Dr Ma is an expert in animal reproduction immunology and early embryonic development His research focuses on animal models for organ development and autoimmune disease and also on MHC functional genes and their evolution His research has resulted in more than 40 scientific papers published in a variety of peer reviewed journals including the high impact journal Science Dr Ma has gained multiple honours and awards for his research work such as National Outstanding Young Funding recipient in 2001 National Natural Science Award reviewer and an honorary professor at Massey University in New Zealand Dr Ma also serves as Director of the Expert Committee HVP China Node Working Committee Navigate Home

    Original URL path: http://www.humanvariomeproject.org/isac-members/run-lin-ma.html (2016-02-10)
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  • Donna Maglott - Human Variome Project
    databases including those supporting reference sequences RefSeq Gene STS markers Conserved CoDing Sequences CCDS Map Viewer RefSeqGene the NIH Genetic Testing Registry GTR MedGen and ClinVar This work has involved extensive interactions with multiple groups including OMIM nomenclature committees GeneReviews TM UniProtKB and model organism databases She played a lead role in developing the functions to track and identify genes for NCBI s annotation group In recent years she has become more involved with representation of rare variation and relationships to human health She had a lead in introducing use of the HGVS standard to dbSNP s submission processing and to displays of variation in multiple NCBI tools She has encouraged submission from locus specific databases to central databases and her staff has mentored processing of variation data in GeneReviews TM and OMIM into ClinVar dbSNP and dbVar She has also contributed to the development of PheGenI a resource associating common variation to human phenotype She currently focuses on projects supporting Medical Genetics at NCBI namely RefSeqGene LRG http www ncbi nlm nih gov refseq rsg MedGen http www ncbi nlm nih gov medgen and ClinVar http ncbi nlm nih gov clinvar while continuing to work with multiple groups to

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