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  • Spotlight on Neurogenetics - 2009 Hawaii Forum | HVP Fora | HVP Meetings & Events | fora - Human Variome Project
    is to generate a common system which can be applied to all genes in all countries to collect variations and their effects This meeting will provide an opportunity for you to share your experiences and ideas with your colleagues and has been designed to maximize exposure of the field with an emphasis on neurological genes It will explore the possibility of starting a consortium to work towards implementing a global system to collect all information on neurological diseases You should focus you presentation on the areas of need and systems available and planned to enhance cross collaboration and avoid unnecessary work and expense High profile speakers have been and will be chosen to provide you with up to date information There will be ample time in the programme for open discussion The meeting will provide a good opportunity for you to share your experiences and ideas with your colleagues and has been designed to maximize exposure of the field with an emphasis on single gene disorder where the need is most on the clinical level to the various systems available and planned to enhance cross collaboration and avoid unnecessary work and expense The aim of the HVP is to generate

    Original URL path: http://www.humanvariomeproject.org/meetings/fora/spotlight-on-neurogenetics-2009-hawaii-forum.html (2016-02-10)
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  • Human Variome Project Educational Strategy Meeting - 2010 Washington Forum | HVP Fora | HVP Meetings & Events | fora - Human Variome Project
    control of genetic disease From meetings in Spain and Paris a Working Group for Education was established There is consensus that educational efforts are needed for multiple groups researchers physicians patients policy makers and the general public This meeting will review results of a survey of HVP members and will discuss various educational issues and strategies specific to HVP activities Abstract Submission We invite abstracts in the following areas Identifying target audiences and their educations needs specific to meeting educational gaps in conducting reporting and explaining clinical research particularly in databases For example target audiences such as general public patients health professionals medical and life science students legislatures and policy makers Identification and evaluation of existing resources or educational programs their advantages and disadvantages Identification of gaps and deficiencies in available resources or existing programs What can be done to improve the resources Development of novel curriculums for teaching Genetics courses for High School students and College undergraduates such as participatory research programs that train students to be researchers Potential standardization of source materials Details Room Conference Theatre Grand Hyatt Washington 1000 H Street NW Washington DC USA Registration 8 30 am 9 00 am Meeting Start 9 00 am

    Original URL path: http://www.humanvariomeproject.org/meetings/fora/human-variome-project-educational-strategy-meeting-2010-washington-forum.html (2016-02-10)
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  • Understanding Human Variation | HVP Fora | HVP Meetings & Events | fora - Human Variome Project
    The Human Variome Project will be extending this collection to further genes and are looking to collaborate with any hospital or laboratory within Australia to achieve the best outcomes for patients When established this system is intended to be transferred to other countries Program09 0009 30Registration and coffee09 3009 45Speaker I Agnes Bankier Welcome Developing genetic literacy for health professionals09 4510 15Speaker 2 Richard Cotton Philosophy of the Human Variome Project International harnessing databases and sharing knowledge10 1510 45Speaker 3 Howard Slater Understanding copy number variants in molecular cytogenetics SNP microarray 10 4511 15Speaker 4 Paul James Interpreting missense variation integrated models and their applications to common disorders11 1511 40Morning Tea11 4012 10Speaker 5 Amanda Spurdle Understanding unclassified variants in cancer12 1012 40Speaker 6 Andy Faucett Explaining variants to clients12 4013 10Speaker 7 Alan Lo The Australian Node Project The Australian Node database in practice achievements to date and the importance of submitting to database13 1014 15Buffet lunch and hands on learning14 15 Meeting EndsReport Understanding Human Variation a satellite meeting convened by the Education Committee of the Human Genetic Society of Australasia HGSA together with the Human Variome Project addressed current understanding interpretation and application of human variation and the means of managing new data from multiple sources by harnessing bioinformatics and international collaboration Forty delegates from a range of disciplines attended the meeting Professor Agnes Bankier spoke to the importance of genetic education for medical graduates to ensure that they had the knowledge and skills to utilise this emerging knowledge for the benefit of their patients The HGSA has developed recommendation for core competencies in human genetics for new medical graduates and web based educational resources for their instruction These are available on the HGSA website and may be useful for the international community as a guide Associate Professor Howard Slater explained copy number variants in molecular cytogenetics which now incorporate SNP microarray technology Whilst new phenotypes have emerged of the CNVs detected 28 are of uncertain and 39 of unknown clinical significance a challenge to the laboratory scientists and clinical colleagues Associate Professor Paul James outlined integrated models for interpreting missense variation and their application to common disorders The evolution of models for assessing evidence for pathogenicity from various sources has been integrated for assessing variants in the breast cancer genes and this model has now been applied to interpretation of variants in LQT sudden death genes There is ongoing challenge for clinicians to further evaluate laboratory results that guide clinical practice Dr Amanda Spurdle outlined how the likely clinical significance of variants is assessed in cancer genetics using a multifactorial model that incorporates bioinformatically predicted protein effects and also demonstrated the potential to include bioinformatic prediction of splicing aberrations in future models Unclassified variants comprise a significant proportion of gene testing results in family cancer clinics and are classified into 5 categories based on quantitative or qualitative classification schemes pathogenic likely pathogenic uncertain likely not pathogenic and not pathogenic These classes have been linked to general

    Original URL path: http://www.humanvariomeproject.org/meetings/fora/understanding-human-variation.html (2016-02-10)
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  • Disease Specific Databases: why do we need them? - Amsterdam 2011 Forum | HVP Fora | HVP Meetings & Events | fora - Human Variome Project
    databases need to be created particularly around specific diseases The Human Variome Project believes that the societies and support groups based around particular diseases have an important role to play here As such the Human Variome Project via the Coordinating office has been reaching out to these societies encouraging them to create new databases to fill in the gaps within the current database landscape This meeting will focus on why disease specific databases are necessary from the viewpoints of both the clinician and researcher and through discussion will raise issues of how the current databases available are lacking and what future databases will need to address the current problems An early adopter of this scheme is the InSiGHT Group the International Society for Gastrointestinal Hereditary Tumours InSiGHT has been involved in the Human Variome Project since its inception in 2006 and has already begun an aggressive process of combining and consolidating the disparate databases for the mismatch repair genes associated with colorectal cancer The Chair of this meeting Professor Finlay Macrae will be sharing the InSiGHT experience in creating a Disease Specific Database Other distinguished speakers will be invited to discuss the problems of current and needs of future disease

    Original URL path: http://www.humanvariomeproject.org/meetings/fora/disease-specific-databases-why-do-we-need-them-amsterdam-2011-forum.html (2016-02-10)
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  • Neurogenetics Consortium Meeting | HVP Fora | HVP Meetings & Events | fora - Human Variome Project
    build on the meeting held in Honolulu 2009 where a Neurogenetics consortium was formed and will provide an opportunity for you to share your experiences and ideas with your colleagues and has been designed to maximize exposure of the field with an emphasis on neurological genes The consortium is working towards implementing a global system to collect all information on neurological diseases You should focus your presentation on the areas of need and systems available and planned to enhance cross collaboration and avoid unnecessary work and expense High profile speakers have been chosen to provide you with up to date information There will be ample time in the programme for open discussion The meeting will provide a good opportunity for you to share your experiences and ideas with your colleagues and has been designed to maximize exposure of the field with an emphasis on single gene disorder where the need is most on the clinical level to the various systems available and planned to enhance cross collaboration and avoid unnecessary work and expense The aim of the HVP is to generate a common system which can be applied to all genes in all countries to collect variations and their effects

    Original URL path: http://www.humanvariomeproject.org/meetings/fora/neurogenetics-consortium-meeting.html (2016-02-10)
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  • Getting Ready for The Human Phenome Project | HVP Fora | HVP Meetings & Events | fora - Human Variome Project
    the phenotype is needed to take full advantage of findings from genome sequences and high throughput experiments in order to understand the biology of the genome However for humans no efforts on a similar scale have emerged that use standardized measures for capturing phenotypic manifestations of disease and correlating them to genotypes environmental exposures and response to treatment On the other hand it is becoming clear that deep phenotype data combined with ever increasing amounts of genomic data have an enormous potential to accelerate the identification of clinically actionable complications of disease subtypes with prognostic or therapeutic implications and in general to improve our understanding of human health and disease Many international groups in Human Genetics are beginning to realize the importance of the topic Although it has in the past been difficult to agree on common semantic and technical standards as well as the ethical and legal framework for collecting and analyzing human phenotype data with the advent of the 1000 genome and the burgeoning movement to establish precision medicine now if the time for our community to put up or shut up The Human Variome Project HVP has founded a Phenotype Interest Group that is organizing this satellite meeting to the American Society of Human Genetics meeting in San Francisco The purpose of this meeting is to capture international opinions on the topic and to develop recommendations and standards for HVP databases for capturing human phenotypic data and recording it in medical databases The HVP will work to promote these standards internationally The meeting will be a full day meeting The final session of the meeting will be an open discussion of the days lectures and of other suggestions and ideas that participants are invited to send to the organizers before the meeting The output of the meeting

    Original URL path: http://www.humanvariomeproject.org/meetings/fora/getting-ready-for-the-human-phenome-project.html (2016-02-10)
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  • Flat | meetings - Human Variome Project
    Initiatives Home Meetings ISAC Meeting October 2015 Upcoming Meetings Previous December 2015 Next 01 Dec 2015 ICCAC Meeting December 2015 17 Dec 2015 ISAC Meeting December 2015 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 Australia P 61 3 9035

    Original URL path: http://www.humanvariomeproject.org/meetings/upcoming.html?date=2015-12-01 (2016-02-10)
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  • Flat | meetings - Human Variome Project
    Meeting October 2015 Upcoming Meetings Previous February 2016 Next 02 Feb 2016 ICCAC Meeting February 2016 17 Feb 2016 Open Knowledge Human Genomics Meetup 25 Feb 2016 ISAC Meeting February 2016 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 Australia

    Original URL path: http://www.humanvariomeproject.org/meetings/upcoming.html?date=2016-02-01 (2016-02-10)
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