NEWSLETTER OF THE HUGO MUTATION DATABASE INITIATIVE
SPONSORED BY THE MARCH OF DIMES (U.S.A)
No. 13 -3rd July 2000
INSIDE THIS ISSUE:
MDI NEWS
- MDI depository of mutations
CORRESPONDENCE
ANNOUNCING NEW DATABASES
CALENDAR OF EVENTS
- MDI meeting, Philadelphia, USA, 3rd October 2000
MDI NEWS
You will have all been asked by now to pledge your support to the proposed new central depository made up of locus specific databases, with a letter describing this proposal accompanying the pledge form.
The current situation at the moment is as follows:
It was agreed at the Vancouver meeting earlier this year that an attempt to obtain funding from industry to build our central depository would be made, their reward being a useful database. Our depository would be based on and adhere to the specifications voted on previously by MDI members (see: http://ariel.ucs.unimelb.edu.au:80/~cotton/specs.htm).
It was decided that we should collect pledges of support for such a venture to show industry that we are serious and have the capability of doing what we say we will and that the system is viable. We have now collected around 140 such pledges, most importantly almost all the LSDB curators have pledged their support, the small number who have not are by and large because we are unable to contact them.
During the Vancouver meeting, many community members expressed interest in putting forth a proposal to build the system or part thereof if any funds were made available to them. We have received two proposals and are now waiting on the remaining groups who expressed interest.
When all proposals are received, industry will be approached.
If there is an industry proposal forthcoming, it will be discussed and voted on by the community in Philadelphia Oct. 3.
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CORRESPONDENCE
Immunodeficiency Mutation Databases- http://www.uta.fi/imt/bioinfo/
We are maintaining a large number of immunodeficiency mutation databases:
BLMbase, BTKbase, CD3Ebase, CD3Gbase, CD40Lbase, CYBAbase, CYBBbase, JAK3base, RAG1base,RAG2 base, SH2D1base, ZAP70base and also a kinase domain database- KinMutBase.
The MUTbase program suite for the maintenance and analysis of mutation databases provides an easy, interactive and quality controlled submission of information to mutation databases. A number of tools are provided. The MUTbase program system is used for the generation and maintenance of mutation databases. The programs may be easily modified for other purposes to store gene-related information.
The programs are free for academic users.
For further information please contact: Mauno Vihinen: ltmavi@uta.fi
Dr. Mauno Vihinen, Institute of Medical Technology, FIN-33014 University of Turku, Finland
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ANNOUNCING NEW DATABASE
The following database has recently been released:
Lowe Syndrome Mutation Database (OCRL1- OMIM 309000)
http://www.nhgri.nih.gov/DIR/GDRB/Lowe/index.html
Curator: Robert Nussbaum, Genetic Disease Research Branch, NHGRI/NIH, Bethesda, MD, U.S.A.
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CALENDAR OF EVENTS
9th International
HUGO MUTATION DATABASE INITIATIVE MEETING
PHILADELPHIA, PENNSYLVANIA, U.S.A.
3 OCTOBER, 2000
This meeting will be held in association with the American Society of Human Genetics Annual Meeting.
DATE: Tuesday 3rd October, 2000
TIME: Registration: 8.00AM
Start: 8.30AM
Finish: 7.00PM
VENUE: Salon A
Philadelphia Marriot Hotel, Philadelphia PA, U.S.A
REGISTRATION: Includes all breaks, full buffet lunch and after meeting drinks.
Please fill out registration form ASAP at:
http://ariel.ucs.unimelb.edu.au:80/~cotton/philreg.htm
Academic & Non-commercial registrants: US$85
Commercial registrants: US$130
SPONSORSHIP:
Sponsorship to help with costs of running the meeting is invited from all interested companies. Please contact the organisers if interested.
ORGANISERS: R. Horaitis, R.G.H. Cotton (Australia)
CONTACT :
R. Horaitis
horaitis@ariel.ucs.unimelb.edu.au
Fax: 61-3-9288-2989
PROGRAM: Yet to be determined
This meeting will be held the day before (registration day) of the Philadelphia ASHG meeting. This meeting will concentrate on issues brought up at the last meetings in San Francisco Oct. '99 and Vancouver April '00 mainly a proposal for self-sustainability of mutation databases and setup of a central mutation depository.
Later in the year abstracts may be invited. We welcome your suggestions.
Reports from previous meetings may be seen on our website: http://www.mrc.edu.au/mdi