NEW WORKING GROUP ON SELF-SUSTAINABILITY OF DATABASES & MDI
A new working group was created with representatives of all the key stakeholders in mutation databases. Representatives from the Central databases, HUGO, M.O.D., The Law, LSDBs, Industry, NIH, Medical Genetics and Clinical genetics were invited to attend a meeting on the evening of October 18th in San Francisco to discuss plans for the self-sustainability of databases and the MDI. Since then specifications for a model database system have been drawn up and we are awaiting any changes to be made by this group. When the specifications have been accepted by the group they will be distributed to all MDI members and comments invited. The business plan will be presented for ratification at the next meeting on 9th April in Vancouver and it is planned to be implemented at the Philadelphia meeting 3rd October.

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CORRESPONDENCE-

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ANNOUNCING NEW DATABASE

The following database has recently been released:

Albright Hereditary Osteodystrophy (GNAS1 - OMIM 139320) mutation database
http://mammary.nih.gov/aho/
Curator: Lee S. Weinstein, Metabolic Diseases Branch, NIDDK/NIH, Bethesda, MD, U.S.A.

ANNOUNCING NEW PUBLICATIONS-

These papers are sure to be of enormous interest to members and others. A summary of the contents follows:

"Human Mutation" Volume 15, No. 1 January 2000

Cotton R.G.H. Progress of the HUGO Mutation Database Initiative: A Brief Introduction and the Human Mutation MDI Special Issue

Den Dunnen J.T. et al Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion paper

Scriver C.R et al Guidelines and Recommendations for Content, Structure and Deployment of Mutation Databases. II. Journey in Progress

Porter C.J et al Central Mutation Databases-A Review

Cotton R.G.H. et al Quality control in the discovery, reporting and recording of genomic variation

Maurer S.M. Coping With Change: Intellectual Property Rights, New Legislation, and the Human Mutations Database Initiative

Brown A. et al MuStar™ and Other Software for Locus-Specific Mutation Databases

Knoppers B.M. et al Ethical Guideposts for Allelic Variation Databases

Scott A.F. et al Online Mendelian Inheritance in Man (OMIM)

Krawczak M., et al The Human Gene Mutation Database - a biomedical information and research resource

Lehvaslaiho H. et al The sequence variation database project at the European Bioinformatics Institute

Porter C.J., et al Future Vision of the GDB Human Genome Database

Sherry S.T., et al Use of Molecular Variation in The NCB1 dbSNP Database

Scriver C.R., et al PAHdb: A Locus-Specific Knowledgebase

Soussi T. et al Analysis of p53 gene mutations in human cancer: the link between epidemiology and carcinogenesis

Minoshima S. et al Eye disorder database "KMeyeDB"

Beroud C., et al UMD (universal mutation database): a generic software to build and analyse locus specific databases

Kazazian H. Summary

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CALENDAR OF EVENTS-

10TH p53 INTERNATIONAL WORKSHOP

The 10th International p53 Workshop will provide in-depth discussions on the status of the field and on the prospects for therapeutic intervention. In addition, we will have plenary talks on cell cycle, DNA repair, apoptosis, signaling, protein modifications, and late breaking news about p53 and other tumor suppressors and oncogenes by world leaders in those fields.

Partial List of Invited Speakers

W. Kaeline, Jr.; D. Meek; L. Donehower; P. Hwang; R. Iggo; S. Benchimol; W. Deppert; M. Kaston; S. Lowe; G. Lozano; G. Wahl; A. Levine; M. Oren; A. J. Milner; K. Vousden; T. Halazonetics; C. Prives; V. Rotter; C. Harris; D. Lane; T. Soussi; F. McCormick, T. Tlsty.

E-mail: p53@curie.fr

Website Address: http://p53.curie.fr/p53ws2000.htm

Thierry Soussi

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HUGO MUTATION DATABASE INITIATIVE

Preliminary notice-

DATE: 9th April, 2000
VENUE: Vancouver Convention & Exhibition Centre, Vancouver, Canada
TIME: 1.00PM until (time to be determined, 8.00PM?, 9.00PM?)

This meeting will be held the day before (registration day) of the Vancouver Human Genome Meeting, (HGM2000). Due to other conflicts, there will be a late start at 1.00PM and finish in the evening (time yet to be determined). Information will be sent as soon as the date, time and venue is finalised. If you have any comments or queries please contact Rania (horaitis@ariel.ucs.unimelb.edu.au ).