archive-org.com » ORG » H » HUMANVARIOMEPROJECT.ORG

Total: 385

Choose link from "Titles, links and description words view":

Or switch to "Titles and links view".
  • Juergen Reichardt - Human Variome Project
    Cloning the human gene for epimerase deficiency galactosemia UDP glucose 4 epimerase GALE in 1995 Reporting the first association between genetic variants in the human steroid 5α reductase type II encoded by the SRD5A2 gene and prostate cancer in 1999 He identified and characterized significant biochemical and pharmacogenetic variation in human steroid 5α reductase type II encoded by the SRD5A2 gene in 2000 He also discovered common somatic mutations in prostate cancer in the human steroid 5α reductase type II SRD5A2 gene in 2004 He was on the faculty at USC the University of Southern California for 13 years Juergen arrived in 2005 in Australia as the Plunkett Chair of Molecular Biology Medicine in Sydney where he continued many of his investigations as well as branching out into new areas by establishing new collaborations in Australia particularly in relationship to complex genetic traits especially heart disease Juergen is currently the Head of School Pharmacy and Molecular Sciences at James Cook University Furthermore he serves as the Associate Dean Research in the Faculty of Medicine Health and Molecular Sciences at James Cook University Juergen Reichardt has coauthored almost 150 peer reviewed publications and has held uninterrupted external funding for some 20 years on two continents He also serves on the Council of HuGO the Human Genome Organization has coorganized various international meetings including the HGM 2012 Human Genome Meeting 2012 in Sydney Australia and a series of PacRim Breast and Prostate Cancer Meetings in 3 different countries he was a visiting professor at many universities including Rome in 2013 and serves also on seven international editorial boards Finally he has lived in six countries on four continents bringing a truly international perspective to his work Juergen is interested in serving on the Human Variome International Advisory Committee because of his interest

    Original URL path: http://www.humanvariomeproject.org/isac-members/juergen-reichardt.html (2016-02-10)
    Open archived version from archive


  • Peter Taschner - Human Variome Project
    at Leiden University he moved to the Center for Human and Clinical Genetics Leiden University Medical Center Leiden Nederland He has been involved in the identification of the genes for juvenile neuronal ceroid lipofuscinosis CLN3 and hereditary paraganglioma SDHD He has developed worm and mouse models to study the molecular basis of these disorders and is one of the curators of the TCA cycle gene mutation database As a staff scientist he headed the group developing the Leiden Open Variation Database package LOVD http www lovd nl and the Mutalyzer sequence variation nomenclature checker https mutalyzer nl He has an interest in developing efficient and unambiguous descriptions of sequence variants and in interpretation and prediction of their functional effects In 2015 Peter started as Professor Genome based Health at Generade the Center of Expertise Genomics of University of Applied Sciences Leiden Generade is a collaboration between partners University of Applied Sciences Leiden Leiden University Medical Center University Leiden National History Museum Naturalis and biotech company Baseclear Peter s research focuses on improving the interpretation of sequence variants and application of genomics technology in relation to personal health Peter Taschner serves also as the Chair of Gene Disease Specific Database Advisory

    Original URL path: http://www.humanvariomeproject.org/isac-members/peter-taschner.html (2016-02-10)
    Open archived version from archive

  • Mauno Vihinen - Human Variome Project
    Committee ISAC Members Mauno Vihinen Mauno Vihinen Mauno Vihinen Professor of bioinformatics Institute of Medical Technology University of Tampere Finland Founding member and board member of HGVS My research interest has been for over 15 years in understanding mechanisms of disease related variations at different levels DNA RNA protein structure function interaction etc For this purpose my group has performed a number of analyses of mutation effects mainly on primary immunodeficiencies and some cancers For these studies and as a service for the worldwide community we do maintain over 120 locus specific mutation databases with over 8000 patient cases In addition to primary immunodeficiencies we have registries also for protein kinase domain and Src homology 2 Src2 domain mutations We have applied and developed bioinformatic tools for prediction which variants are pathogenic and which are benign For the disease associdated variations we further apply predictions to find out likely mechanism behind the disease Our latest achievements in variation field are the Variation Ontology VariO and development of an integrated prediction tool called Pathogenic Or Not Pipeline available at http bioinf uta fi Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap Privacy Policy Search Login Contact

    Original URL path: http://www.humanvariomeproject.org/isac-members/mauno-vihinen.html (2016-02-10)
    Open archived version from archive

  • Michael Watson - Human Variome Project
    the Medical Genetics Training Program at Yale University School of Medicine where he was the Associate Director of Clinical Cytogenetics He was director of Clinical and Molecular Cytogenetics at Washington University School of Medicine in St Louis Professor of Pediatrics and Genetics from 1986 2001 Director of the Medical Genetics Training Program 1996 1999 and is certified by the American Board of Medical Genetics ABMG in Clinical Cytogenetics and as a PhD Medical Geneticist He served on the Board of Directors of the American College of Medical Genetics 1992 1998 and was Vice President for Laboratory Affairs and chaired numerous ACMG Committees He was co chair of the NIH DOE Task Force on Genetic Testing from 1995 through 1997 He directed the HRSA funded project Newborn Screening Toward a Uniform Screening Panel and System He is project director of HRSA s National Coordinating Center for Regional Genetics and Newborn Screening Collaborative Groups and for NIH NICHD s Newborn Screening Translational Research Network NBSTRN Coordinating Center He is also a co P I for the ClinGen Resource Project an NIH NHGRI funded project to clinically annotate genome variation As of 2001 he became an Adjunct Professor of Pediatrics at Washington University

    Original URL path: http://www.humanvariomeproject.org/isac-members/michael-watson.html (2016-02-10)
    Open archived version from archive

  • Martina Witsch-Baumgartner - Human Variome Project
    84 88 Eberhard Karl University Tübingen Germany Human Genetics 88 89 Master Thesis Cytogenetic lab Prof Bernard Dutrillaux Institute Curie Paris France 90 93 Doctoral Thesis Biochemistry Human Genetics Prof Manfred Schweiger Innsbruck Austria 1994 postdoc Institute Gaslini Prof Giovanni Romeo Genova Italy 95 97 postdoc Children s Hospital Innsbruck Austria Since 1997 position at the Department of Medical Genetics at the University in Innsbruck Since 2007 as Head of

    Original URL path: http://www.humanvariomeproject.org/isac-members/martina-witsch-baumgartner.html (2016-02-10)
    Open archived version from archive

  • Arleen Auerbach - Human Variome Project
    diagnosis of Fanconi anemia played a major role in the use of this syndrome as a model for the development of umbilical cord blood transplantation as an alternative to bone marrow transplantation in the treatment of hematologic disorders The first human cord blood transplant was in a Fanconi patient in 1988 the patient is still alive and well after more than 20 years As part of a consortium effort Dr Auerbach and her colleagues identified the gene for complementation group A FANCA which accounts for 65 percent of Fanconi anemia cases More recently Dr Auerbach and her colleagues have played a major role in the identification of FANCJ BRIP1 FANCN PALB2 FANCI and FANCP Current research focuses on identification of additional genes in IFAR patients that cause Fanconi anemia as there are still IFAR patients for whom all known Fanconi genes have been ruled out The Fanconi anemia genes all encode unique proteins most of which do not exhibit any known functional domains these may thus represent a new class of genes associated with the maintenance of genomic stability Among the fifteen Fanconi proteins that have been identified BRCA2 FANCD1 PALB2 BRIP1 and RAD51C are known to predispose heterozygous carriers to breast cancer Through the IFAR Dr Auerbach s lab obtained tissue samples and established cell lines from over 600 research participants with various Fanconi anemia subtypes This IFAR cell repository should be very valuable for future studies to understand the role of the Fanconi genes in cancer CAREER Dr Auerbach received her bachelor s degree from William Smith College in 1957 her M A from Columbia University in 1958 and her Ph D from New York University in 1977 Following a postdoctoral fellowship in the laboratory of Dr Raju Chaganti at Memorial Sloan Kettering Cancer Center and a position

    Original URL path: http://www.humanvariomeproject.org/isac-members/arleen-auerbach.html (2016-02-10)
    Open archived version from archive

  • Qasim Ayub - Human Variome Project
    evaluated for its therapeutic effects in mouse models of septic shock Back in Pakistan he assisted in setting up a state of the art molecular biology research facility The laboratory became the focal point for the Human Genome Diversity Project s South Asian sample collection and established cell lines from several indigenous populations of Pakistan that are now available as part of the Human Genome Diversity Cell Line Panel to researchers worldwide through the Centre d Etude du Polymorphisme Humain France This has permitted extensive analyses of genetic variation in these populations and is acknowledged internationally as a major Pakistani contribution Over the past decade Dr Ayub has analyzed DNA variation in ethnic and linguistic groups from Pakistan in order to understand their origins and relatedness with world populations Several of the novel male specific markers that were identified during these studies are now routinely used in forensic DNA analysis In 2006 he was awarded the President of Pakistan s Medal of Excellence Tamgha i Imtiaz for contributions to science He joined the Human Evolution Team at the Wellcome Trust Sanger Institute Hinxton in 2008 where his research focuses on the analyses of DNA variation in human populations using whole

    Original URL path: http://www.humanvariomeproject.org/isac-members/qasim-ayub.html (2016-02-10)
    Open archived version from archive

  • Mireille Claustres - Human Variome Project
    of Montpellier Faculty of arts graduated in Psychology Faculty of Medicine M D and Full Professor Faculty of Sciences Master in Biochemistry and Ph D then get specialized since 1990 in molecular genetics for some single gene disorders From 1989 to September 2013 she has directed three public health activities at the University Hospital of Montpellier i Molecular Genetics Diagnostic Unit dedicated to some rare genetic disorders including prenatal and preimplantation genetic diagnosis ii Medical Molecular Genetics Teaching programs for Master students iii Research Inserm unit entitled Rare Disorders Molecular Genetics Functional studies and Locus specific databases She dedicated energy and time during 27 years to the management of diagnostic and research teams and to the professional promotion of all categories of collaborators Her interests include the genetic basis of single gene disorders aberrant splicing genotype phenotype relationships and Locus specific mutation databases organization of national network between experts of specific gene analysis She has contributed 242 peer reviewed publications referenced in PubMed and over 50 others She is also involved in several scientific or university councils including major Patients Associations s Scientific Committees National Scientific Evaluation Committees or The National Council of French Medical Universities Navigate Home About Activities

    Original URL path: http://www.humanvariomeproject.org/isac-members/mireille-claustres.html (2016-02-10)
    Open archived version from archive



  •