Human Genome Variation Society(formerly HUGO-Mutation Database Initative)Newsletter No. 3 |
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(Previous HUGO-MDI newsletters may be found on our website at: www.genomic.unimelb.edu.au/hgvs/newsletters.html, these may be helpful for new members to familiarize themselves with our projects).
We are pleased to report that HGVS now has 66 full memberships. We envision solicitation of many new members at the Baltimore American Society of Human Genetics Meeting (ASHG).
We will be hosting a not-for-profit exhibitors booth at the ASHG meeting. This will be situated on the 3rd level of the Baltimore Convention Centre directly outside two concurrent session rooms. Come along and meet us if you are there.
We are inviting all members and others to submit their abstracts for the Baltimore Scientific meeting as soon as possible so the program may be set. All abstracts relating to human genome variation, especially those with a database of variations or nomenclature slant will be considered. You need to get your abstract in early if you would like an oral presentation. If you know you will attend, please submit your abstract or at least register for the meeting and let us know the topic of your presentation as soon as possible so relevant arrangements may be made. Registrations without presentations are also accepted. Register here.
We invite all HGVS members to attend our annual general meeting, to be held 15th October 2002 at the Hyatt Regency Baltimore, U.S.A. See below for details.
All members who wish to make an announcement of interest to members in these newsletters please send a short paragraph to Rania at (horaitis@medstv.unimelb.edu.au) to be included in the next issue.
Communicated by John Christodoulou Associate Professor & Director, Western Sydney Genetics Program, Children's Hospital at Westmead (Sydney), Westmead, NSW Australia
Through the generous support of International Rett Syndrome Association and the Rett Syndrome Australian Research Fund, and in association with the bioinformatics company BioLateral, I am pleased to authorise a limited release of the database. The URL to access the database is: http://mecp2.chw.edu.au/ . This database will ultimately include all published mutations and polymorphisms (similar to other databases already in existence), but in addition provides the opportunity for researchers and diagnostic labs to input their mutation data in a secure and anonymised manner. We are keen to log all patients with all mutations, not just new mutations. In addition, we are keen to hear about polymorphisms (previously reported or new). Our hope is that this resource will provide true prevalence data for mutations and polymorphisms, and ultimately may allow us to draw solid phenotype genotype correlations. The database is still in the development stages, in that there are some pages that need resources added, and not all publications have been entered yet. Before we authorise a general release of the website, I would be grateful for your input of the current version. In particular, we are keen to hear about: 1. Bugs [with the actual website] 2. Content errors in database 3. Enhancements you would like - [look, features etc]
M. Olivier, R. Eeles, M. Hollstein, M.A. Khan, C.C. Harris and P. Hainaut Hum Mut 19:607-614
A.S. Teebi, A. A. Teebi, C. J. Porter and A. J. Cuticchia Hum Mut 19:615-621
R.A. Pagon, P. Tarczy-Hornoch, P.K. Baskin, J. E. Edwards, M. L. Covington, M. Espeseth, C. Beahler, T. D. Bird, B. Popovich, C. Nesbitt, C. Dolan, K. Marymee, N. B. Hanson, W. Neufeld-Kaiser, G. McCullough Grohs, T. Kicklighter, C. Abair, A. Malmin, M. Barclay and R.D. Palepu Hum Mut 19:501-509
(Formerly HUGO Mutation Database Initiative Meeting)
All are invited and encouraged to attend the annual general meeting of the HGVS in Baltimore. This is our main annual meeting where scientific presentations are usually made in the morning and a business meeting and discussion of problems & plans occurs in the afternoon. Abstracts are invited from all attendees.
The program has not been determined yet, however, apart from scientific presentations from submitted abstracts, we will discuss an update to mutation nomenclature, the planned central variation database plans and progress, plans for collection of variations from diagnostic laboratories, Locus Specific Database in a Box software and also discuss the business of the Human Variation Society. The meeting closes with a mixer to give attendees the opportunity to meet and discuss ideas in a casual environment.
Registration fees include room rental, Audio Visual and administrative costs as well as all breaks, a buffet lunch and mixer.
| Date: | Tuesday October 15, 2002 |
| Time: | Registration: 8:00AM, Start: 8:30AM, Finish: 7:00-8:00PM |
| Venue: | Hyatt Regency Baltimore, U.S.A. |
| Registration: |
Earlybird (available
until 15 September 2002): HGVS member US$85 Non-HGVS member: US$100 Standard (after 15 September 2002): HGVS member US$100 Non-HGVS member: US$120 Register here |
| Abstracts: | All HGVS members & others are invited to send in an abstract. All abstracts MUST be received by 15th September. There is more chance of an oral presentation if you get your abstract in early! (Note you do not need to submit an abstract to attend the meeting.) |
| Organizers: | R. Horaitis,
Executive Secretary HGVS R.G.H. Cotton, President HGVS |
No details as yet however HGVS will be joining HGM2003 in Cancun on Mexico's Mayan Riviera on the Caribbean. Note this in your diary as the meeting is likely to be as exciting as the location! See HUGO Website for more details on HGM 2003 and keep an eye on our newsletters and website for more details on this meeting in future.
Link to Palm Cove Meeting Website
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Coordinator Rania Horaitis horaitis@mail.medstv.unimelb.edu.au |