HUGO-Mutation Database InitiativeNewsletter No. 18 |
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This year proved to be an exiting one for the MDI meeting. Although numbers were down due to the events of Sept. 11 a great deal was accomplished. First of all we would like to thank GENAISSANCE for their generous donation to this meeting. As usual a scientific meeting was held in the 1st half of the day with various scientific presentations. Mauno Vihinen spoke about the Immunodeficiency knowledge base: immunodeficiency resource (IDR), David Fung about a new database eMelanoBase which is an online disease-specific variant database for familial melanoma, Ian Craig discussed ideas towards Integrated Databases for genetic variation in the dopamine and serotonin systems, and Arleen Auerbach spoke about the Fanconi Anaemia Mutation Database. The First Release of the Arab Genetic Disease Database was presented by Saeed Teebi who later also described continuing developments of the BiSC WayStation project. Michaela Aldrich presented plans for DmuDB: a Diagnostic Mutation Database, whilst Heikki Lehvalslaiho spoke of the WareHouse Update & Plans. After a relaxing lunch the business meeting commenced.
We are pleased to announce The Human Genome Variation Society (HGVS) was inaugurated on the 12th October 2001 at this business meeting. This new Society has stemmed from the HUGO Mutation Database Initiative (MDI) and will have "Human Mutation" as the Society journal. The Society aims to foster discovery and characterization of genomic variations including population distribution and phenotypic associations. We will promote collection, documentation and free distribution of genomic variation information and associated clinical variations and endeavor to foster the development of the necessary methodology and informatics. Richard G. H. Cotton (Melbourne, Australia) was elected President and William S. Oetting (Minneapolis, USA) was elected Secretary/Treasurer. The Board of Directors is as follows: Arleen D. Auerbach (New York, USA), Christophe Beroud (Paris, France), Ernest Beutler (San Diego, USA), Anthony Brookes (Stockholm, Sweden), Alastair F. Brown (Edinburgh, UK), C. Conover Talbot Jr. (Baltimore, USA), A. Jamie Cuticchia (Toronto, Canada), Raymond Dalgleish (Leicester, UK), Matthew Darlison (London, UK), Johan T. Den Dunnen (Leiden, The Netherlands), Bruce Gottlieb (Montreal, Canada), Heikki Lehväslaiho (Cambridge, UK), Victor A. McKusick (Baltimore, USA), Charles R. Scriver (Montreal, Canada), Nobuyoshi Shimizu (Keio, Japan), Graham Taylor (Leeds, UK), Edward Tuddenham (Hammersmith, UK), Mauno Vihinen (Tampere, Finland), Douglas Wallace (Atlanta, USA). Since the meeting, Rania Horaitis has been designated Executive Secretary.
The Society was incorporated as a non-profit organization in New York State, U.S.A on November 8th 2001.
Membership dues for the HGVS are US$200 and this includes full print subscription and online access to Human Mutation. Those joining prior to June 30, 2002 will be "Founding Members".
Other benefits are:
Further benefits may be available later. A student rate is being discussed. We urge you to join the Society to ensure its success by filling out the form.
Current MDI members will still receive a Newsletter such as this one for the time being.
We are asking all creative MDI members to get out their crayons (graphics programs) and design a logo for the HGVS. It must be two-colour only (for printing cost reasons) not including white. i.e. blue, green and white is ok, but blue, green and black is not. It must be simple, clear and look good in large and small form as well as in print and on the Internet. Hopefully a "variation" is incorporated. The winner will receive a free HGVS Membership for 1 year. Entries so far are shown at http://www.hgvs.org follow links to "logo competition".
Dr. A. Jamie Cuticchia presented in the Genomics session of the ASHG. It was titled Collection, Storage, and Distribution Of Data Concerning DNA Variations Affecting Human Phenotypes and outlined the WayStation, Office WareHouse plans that you have all heard before.
The MDI members that applied for an NIH grant to fund the WayStation/Office/WareHouse central database system prepared a poster outlining the plans and was presented at the American Society of Human Genetics Annual Meeting last month. Rania who presented the poster, reports that there was a lot of interest. Some new members were solicited.
Once again for the 2nd year MDI shared an exhibitors booth with HUGO nomenclature committee at the ASHG meeting. This was strategically placed between the HUGO and BiSC/GDB booths. Many members at the meeting came by to meet us and others gained information about the MDI, its plans and the new HGVS society. We thank HUGO for the booth.
Database of genetic variants in patients with chronic pancreatitis
(PRSS1; OMIM 276000 & SPINK1; OMIM 167790)
http://www.uni leipzig.de/pancreasmutation/
Curators: Niels Teich, Universität Leipzig, Medizinische Klinik und Poliklinik II Leipzig, Germany
1st ANNOUNCEMENT HUMAN GENOME VARIATION SOCIETY SCIENTIFIC MEETING 14th April 2002 SHANGHAI, China (in Association with HGM2002) DATE: Saturday 14 April, 2002 ORGANISERS: R. Horaitis, R.G.H. Cotton Fax: 61-3-9288-2989 Email: horaitis@medstv.unimelb.edu.au EXPRESSIONS OF INTEREST: Please contact us at any time to notify of your attendance. ABSTRACTS WILL BE INVITED NEXT NOTICE KEEP AN EYE ON THE WEBSITE www.hgvs.org *** 1ST ANNOUNCEMENT 3RD HUGO MUTATION DETECTION TRAINING COURSE 30th August to 3rd September 2002 University & Hospital of Montpellier, Montpellier, France Organiser: Prof Mireille Claustres (France) Course Co-ordinator: Graham Taylor (UK) Advisors: Richard G H Cotton (Australia), Johan Den Dunnen (Holland), Ann-Christine Syvänen (Sweden), Mario Tosi (France) We are pleased to announce that the 2002 HUGO Mutation Detection Course will be set in the beautiful surroundings of Montpellier. As usual it will provide a combination of lectures, demonstrations and practical classes to give participants experience with current and emerging technologies for mutation scanning and genotyping. Participants should plan to arrive on Friday evening (30th) and the course ends on Tuesday (3rd). These popular courses are aimed at post graduate and medical scientists who wish to broaden their experience of mutation detection technology and offers an excellent opportunity to meet colleagues and experienced practitioners working in the area. The meeting web-site at: http://www.leeds.ac.uk/cmgs/hugo/ will have more details regarding registration, speakers, programme etc soon. Details of previous meetings are on the Website now. EXPRESSION OF INTEREST If you are interested in receiving further details on the Mutation Detection Course as soon as they are available, please email your contact information to the Meeting Secretariat at: HUGO MUDTC HUGO, 144 Harley St, London W1G 7LD, UK Tel: [44] (171) 935 8085 Fax: [44] (171) 935 8341 email hugo@hugo-international.org *** 1st ANNOUNCEMENT HUMAN GENOME VARIATION SOCIETY ANNUAL & SCIENTIFIC MEETING 15th October 2002 BALTIMORE, U.S.A. (in Association with ASHG) ORGANISERS: R. Horaitis, R.G.H. Cotton Fax: 61-3-9288-2989 Email: horaitis@medstv.unimelb.edu.au EXPRESSIONS OF INTEREST: Please contact us at any time to notify of your attendance. ABSTRACTS WILL BE INVITED NEXT NOTICE KEEP AN EYE ON THE WEBSITE www.hgvs.org
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Coordinator Rania Horaitis horaitis@mail.medstv.unimelb.edu.au |