The EJHG publishes short announcements (free of charge for ESHG members) regarding meetings in Europe, positions available and other announcements of interest to the Human Genetics community in Europe

PECO-EUCROMIC Conference on Prenatal Diagnosis

(EU concerted action NoERBCIPD CT94-0213) in conjunction with the Annual Meeting of the Czech Society of Medical Genetics

September 4–7, 1996, Prague, The Czech Republic

The main goal of the conference is to present prenatal diagnosis in the PECO countries (the Central and Eastern European Countries and the States of the former Soviet Union) including national and local organisations, registration of information, diagnostic methods, screening procedures, the impact of prenatal diagnosis, methods under development, funding and legislation, present problems and future development. Speakers from the PECO countries have been invited to address the present national state and views on these topics. The recent progress and perspectives of prenatal diagnosis are reviewed by leading experts.

The preliminary programme includes: Cytogenetics and molecular Genetics, Invasive methods, Ultrasound screening and diagnosis and Biochemical screening.

Satellite workshops will be organised for particular topics related to prenatal diagnosis and screening.

Confirmed workshop: The European Down’s Syndrome Screening Group is organising a workshop sponsored by Wallac on biochemical screening in the first and second trimesters.

Speakers (by May 17): Ségolène Aymé, France; V. Baranov, Russia; Oliver Bartsch, Germany; Michael Christiansen, Denmark; Margarita Brankova, Bulgaria; Howard S. Cuckle, UK; E.Y. Grechanina, Ukraine; Johanne M. Hahnemann, Denmark; Zivana L. Kalicanin, Yugoslavia; Vaidutis Kucinskas, Lithuania; M. Lipping-Sitska, Estonia; J.M.M. van Lith, Netherlands; Margareta Mikkelsen, Denmark; Jiri Santavy, Czech Rep.; Andras Toth, Hungary; G. Tsukerman, Byelaros; Jacek Zaremba, Poland.

Organising Committee: Lars O. Vejerslev (President), J. Santavy (Vice-president), M. Macek (Secretary-General)

Registration fee: PECO countries US$ 50; Non-PECO countries US$ 150

Information and registration: The first announcement is available. Preliminary programmes, registration forms, and Call for Papers will be available in early July 1996. If you have not already returned the reply slip on the first announcement please contact:

PECO-EUCROMIC Secretariat

The John F. Kennedy Institute

Gl. Landevej 7

DK-2600 Glostrup (Denmark)

Phone +45 4326 0101

Fax+45 4343 1130

E-mail: eucromic@kennedy.dk

Locus-Specific Mutation Database Initiative

The number of genes described, which when mutant, cause disease is increasing exponentially. Not only that, there is a similarly increasing number of mutations in many genes. Ultimately, if there are 50,000 genes each with 500 mutations, the number of mutations causing disease may be around 25 million. This is a large dataset, and early planning is needed to cope with it efficiently and accurately, so that clinicians, researchers and others can use these data.

Currently, there is no up-to-date listing of all mutations in all genes. Central databases have difficulty keeping up or have incomplete records. Some locus-specific mutation databases are kept up to date by those who use/provide the information of research and/or clinical care. Some of these are available via Internet.

Recently, an initiative has developed that aims to have up-to-date listings of mutations in genes available via Internet. This developed out of meetings of interested individuals in Montreal (1994), Minneapolis (1995) and Heidelberg (1996). The current status of this initiative is as follows:

  1. (1)

    Four working groups have been formed: Software and Content (C. Scriver, Chair), Email: mc77@musica.mcgill.ca; Central Databases (V. McKusick and J. Ostell, Chairs), Email: mckusick@gdb.org, Email: ostell@object.nlm.nih.gov; Nomenclature (S. Antonarakis, Chair), Email: sea@medsun.unige.ch; Alliance of Database Curators (R. Cotton, Chair), Email: cotton@ariel.its.unimelb. edu.au.

  2. (2)

    A meeting is planned for 1.00–9.00 p.m., 29th October 1996, before the ASHG meeting in San Francisco, to form the Mutation Database Curators Association and consider and possibly accept recommendations from the working parties.

  3. (3)

    Members of this Association will agree on content, etc. of databases and endeavour to keep them up to date and work to keep central database(s) up to date.

  4. (4)

    Dr. M. Ashburner is developing a proposal for a new central database.

  5. (5)

    This initiative is supported by the March of Dimes and occurs under the auspices of HUGO.

Those interested in any aspect of the initiative and helping in any way should contact the relevant chair. Those wishing to be on the Mailing List and/or attend the 29th October meeting should contact R. Cotton (see below). Further information and a questionnaire can be found on the Mutation Database Website at: http://ariel.ucs.unimelb.edu.au:80/~cotton/mrc_database.htm.

R. Cotton

Fax: 9288 1989

C. Scriver

Fax: 1 5149344329 saved as elect/18/06/1996