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  • Collet Dandara - Human Variome Project
    response with an emphasis on efavirenz stavudine lopinavir and tenofovir as well as diabetes and schizophrenia pharmacogenetics Also interested and has contributed to evaluating human genetic variation that is associated with differential risk to esophageal and cervical cancer Published over 30 original research papers in international peer reviewed journals and 2 book chapters Knowledgeable in molecular biology techniques especially to do with sample collection handling DNA extraction storage use and quality control Career Brief Completed PhD in 2003 after having done the bulk of the work at Huddinge hospital Karolinska University Took up a postdoctoral fellowship at the University of Cape Town from 2003 until the third quarter of 2007 Joined the School of Molecular and Cell Biology at the University of Witwatersrand as a lecturer in September 2007 Left University of Witwatersrand February 2009 to join the University of Cape Town as a Senior lecturer Was promoted to Associate Professor at the end of 2012 Currently a Young Affiliate with the World Academy of Sciences TWAS until 2017 a recent former committee member of the Southern African Society for Human Genetics 2011 2013 and a member of the African Society for Human Genetics Major Achievements Elucidated one of the

    Original URL path: http://www.humanvariomeproject.org/isac-members/collet-dandara.html (2016-02-10)
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  • Mona El Ruby - Human Variome Project
    Medicine Cairo University Egypt She received her PhD in Human Genetics from Faculty of Medicine Alexandria University Egypt in 1986 She joined the NRC in Egypt in 1977 under the supervision of Prof Dr Samia Temtamy Prof of Human Genetics Since then she is working extensively in the fields of Clinical Genetics and Cytogenetics Her current research interests include Clinical Syndrome Identification Dysmorphology CHD Skeletal Dysplasia Sexual Differentiation Disorders and Detection of Mutations in rare Autosomal Recessive Disorders She works also as Clinical Cytogeneticist She is focusing on genotype phenotype correlations in genetic diseases and on genetic counseling She is an author and co author of more than 65 publications in national and international peer reviewed medical journals At present she is the Principal and Co Principal Investigator of 5 major projects namely prevention and classification of genetic disorders registry and database foundation for genetic diseases in Egypt genetic studies in Disorders of sexual Development Recently she is focusing on detection of gene mutations in Congenital Heart Disease genotype phenotype correlations on Mental Retardation syndromic and non syndromic and on Clinical Molecular Cytogenetics Recently in 2013 she is a participating investigator of 2 major national grants Capacity Building project and

    Original URL path: http://www.humanvariomeproject.org/isac-members/mona-el-ruby.html (2016-02-10)
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  • Aída Falcón de Vargas - Human Variome Project
    degree from the Venezuelan Central University her PhD from the Institute of Child Health at the University of London She did her residency at the Hospital Vargas de Caracas Vargas Medical School Dr Vargas expertise is Clinical and Molecular Genetics Cancer Genetics and Cytogenetics Dr Vargas has served on several editorial boards including the Venezuelan Genetics Society Publications Journal of The Venezuelan Medical Federation the Journal Acta Científica Venezolana The Venezuelan Society of Internal Medicine and the Journal of the Medical Faculty Venezuelan Central University Dr Vargas is author and co author in numerous publications Dr Vargas is a member of several professional organizations including the Venezuelan Genetics Society where she also served as President and Secretary General the Hospital Vargas de Caracas Medical Society Internal Medicine Venezuelan Society ASOVAC Venezuelan Science Society Latin American Genetics Society the International Genetics Association Dermatoglyphics International Association British Clinical Genetics Society Clinical Pathology Venezuelan Society European Genetics Society Clinical Genetics Colombian Society Latin American Genetic Association RELAGH Dr Vargas is a fellow of the American College of Physician American Society of Internal Medicine corresponding member of the American College of Medical Genetics President of the Venezuelan Human Genetic Society Vice President of the

    Original URL path: http://www.humanvariomeproject.org/isac-members/aida-falcon-de-vargas.html (2016-02-10)
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  • Marc Greenblatt - Human Variome Project
    Program Research Dr Greenblatt s research interests are in interpreting genetic variants in cancer susceptibility genes by using multiple lines of evidence epidemiology statistics tumor pathology evolution structure and function computational algorithms He has led projects that have integrated in vitro and in silico computational data to interpret genetic variation Dr Greenblatt s current research activities involve interpretation of variants in the DNA mismatch Repair genes that are responsible for Lynch syndrome the most common form of hereditary colorectal cancer Certification Board Eligibility 1984 National Board of Medical Examiners 1986 American Board of Internal Medicine 1991 2001 2011 American Board of Internal MedicineSubspecialty in Medical Oncology Professional Societies Alliance for Clinical Trials in Oncology American Association of Cancer Research American Society of Human Genetics American Society of Clinical Oncology Collaborative Group of the Americas on Inherited Colorectal Cancer Human Genome Variation Society Council Member Human Genome Organization HUGO Mutation Database Initiative Human Variome Project Scientific Advisory Council IARC Working Group on Unclassified Genetic Variants International Society for Gastrointestinal Hereditary Tumors InSiGHT National Surgical Adjuvant Breast Program Vermont Medical Society Publications Selected publications Plon SE Eccles DM Easton D Foulkes WD Genuardi M Greenblatt MS Hogervorst FBL Hoogerbrugge N Spurdle AB Tavtigian S for the IARC Unclassified Genetic Variants Working Group 2008 Sequence variant classification and reporting recommendations for improving the interpretation of cancer susceptibility genetic test results Human Mutation 29 1282 1291 2008 Tavtigian SV Greenblatt MS Lesueur F Byrnes GB for the IARC Unclassified Genetic Variants Working Group In silico analysis of missense substitutions using sequence alignment based methods Human Mutation 29 1327 1336 2008 Goldgar DE Easton DF Byrnes GB Spurdle AB Iversen ES Greenblatt MS for the IARC Unclassified Genetic Variants Working Group Genetic evidence and integration of various data sources for classifying uncertain variants into a

    Original URL path: http://www.humanvariomeproject.org/isac-members/marc-greenblatt.html (2016-02-10)
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  • Ada Hamosh - Human Variome Project
    a catalog of human genes and genetic disorders created by Dr Victor A McKusick This database is still authored and edited at Johns Hopkins and is available at http omim org A premier clinical and molecular biological resource OMIM attracts over 10 000 unique users per day Dr Hamosh earned a BA degree from Wesleyan University a medical degree from Georgetown University and an MPH degree from the Johns Hopkins University She did her training in Pediatrics and Clinical and Biochemical Genetics at Johns Hopkins Hospital The molecular basis of Mendelian disorders and the genetic basis of variability within single gene disorders have been the core of her professional interests in both OMIM and research Clinically her interests are similarly broad although she has particular expertise in the diagnosis and management of inborn errors of metabolism Her educational interests focus on the integration of genetics into general clinical practice as well the education of geneticists Dr Hamosh began her genetics career studying cystic fibrosis and served as the coordinator of the CF genotype phenotype consortium She has authored over 70 publications on a wide range of topics Dr Hamosh served as the chair of the Maryland State Advisory Council on Hereditary and Congenital Disorders from 2001 2009 She has is a founding member of the Human Variome Project and serves on its Phenotyping committee as well as the International Consortium of Human Phenotype Terminologies ICHPT She serves on genome phenome working group of the International Rare Disease Research Consortium IRDiRC and is an advisor to the ClinGen Project In addition she is a member of the GEUVADIS consortium She is the Chair of the Phenotype Review Committee of the Baylor Hopkins Center for Mendelian Genomics as well as that of the community portal serving all 3 Centers In that capacity

    Original URL path: http://www.humanvariomeproject.org/isac-members/ada-hamosh.html (2016-02-10)
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  • Dhavendra Kumar - Human Variome Project
    clinical genetics career spanning over 30 years Professor Kumar has engaged in a number of special interest developments particularly clinical dysmorphology paediatric metabolic medicine neurogenetics cancer genetics and cardiovascular genetics Currently he leads the multi disciplinary inherited cardiac conditions service at the University Hospital of Wales Cardiff and the Research Development lead for cardiovascular genetics He has initiated development and setting up of the International Cardiovascular Genomics Consortium as part of the Human Variome Project s Disease Specific Databases development program He has authored edited Genetic disorders of the Indian Subcontinent Springer Kluwer Springer 2004 Genomics and Clinical Medicine Oxford University Press 2008 Principles and Practice of Clinical Cardiovascular Genetics Oxford University Press 2010 Oxford Specialist Handbook on Inherited Cardiac Disease Oxford University Press 2011 and Genomics and Health in the Developing World Oxford University Press 2012 He has several peer reviewed publications in pediatrics and clinical genetics In 2006 he established and developed a new biomedical journal Genomic Medicine Springer that led to setting up the official journal of the Human Genome Organization The HUGO Journal and continues to serve as the co editor He is the founding editor in chief for the new genomics publications Applied and Translational Genomics Elsevier and Genomic and Molecular Medicine Morgan and Claypool During the long career in medical genetics Professor Kumar has engaged in undergraduate MB and BSc and postgraduate teaching MSc MD PhD He has organized a number of national and international professional conferences and educational seminars These have been widely acknowledged and appreciated at all professional levels He founded and leads the Indo UK Genetic Education Forum He has initiated and leads an international genetics genomics teaching and training program in Indian subcontinent the Middle East Africa and Latin America through educational seminars and establishing professional networks of joint partnership

    Original URL path: http://www.humanvariomeproject.org/isac-members/dhavendra-kumar.html (2016-02-10)
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  • Rita Inés Nohes de Halac - Human Variome Project
    Associate Researcher National Research Council CONICET Argentina 1994 1998 Educational Investigator Category B in the Program of Incentives Presidential Decree no 2124 93 1998 2012 Educational Investigator Category 1 Presidential Decree 2124 93 TEACHING 1986 2009 Professor Titular Department of Basic Sciences Chair Biology and Cell Biology School of Dentistry National University Cordoba Argentina 1978 1993 Professor of Plant Biology Department Agropecuary Sciences Catholic University Cordoba Argentina HONORS AND AWARDS 02 1973 02 1975 Research sholarship of the Alexander von Humboldt Foundation at the Institute of Developmental Physiology Universität Köln F R Germany 05 10 23 12 1994 Invited Research Fellow at the Institute of Air spatial Medicine Laboratory of Radiobiology of the Deutsche Forschungsanstaldt für Luft und Raumfahrt DLR Cologne F R Germany 1 06 31 06 1998 Invited Research Fellow at the Laboratory Cell Biology Experimental Station of Zaidín Consejo Superior de Investigaciones Científicas Granada Spain Frame Program CONICET Argentine CSIC Spain Agreement 01 07 15 07 1998 Invited Research Fellow at the Neuropathology Department of the University Mainz F R Germany Grant by the Alexander von Humboldt Foundation 01 05 31 07 2000 Research Fellow at the Neuropathology Department of the University Mainz F R Germany DAAD

    Original URL path: http://www.humanvariomeproject.org/isac-members/rita-ines-nohes-de-halac.html (2016-02-10)
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  • Heidi Rehm - Human Variome Project
    at Partners Laboratory for Molecular Medicine and Associate Professor of Pathology at Brigham Women s Hospital and Harvard Medical School The lab focuses on the rapid translation of new genetic discoveries into clinical tests and bringing novel technologies and software systems into molecular diagnostics to support the integration of genetics into clinical use The laboratory has been a leader in translational medicine launching the first clinical tests for cardiomyopathy and lung cancer treatment The lab offers whole genome sequencing services for both clinical diagnostics and to support several genomic medicine research projects including the MedSeq and BabySeq projects Dr Rehm is also involved in defining standards for the use of next generation sequencing in clinical diagnostics and the interpretation of sequence variants through her committee roles at the American College of Medical Genetics Dr Rehm is also one of several principal investigators of a major NIH funded effort called ClinGen Clinical Genome Resource Program to support broad sharing of genotype and phenotype data and clinical annotations of genes and variants Dr Rehm also directs the Clinical Molecular Genetics training program at Harvard Medical School and conducts research in hearing loss Usher syndrome cardiomyopathy healthcare IT and genomic medicine Navigate Home

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