Newsletter No. 5

April 2003

(Previous HGVS & HUGO-MDI newsletters may be found on our website at:, these may be helpful for new members to familiarize themselves with our projects).

Inside this Issue:



Calendar of Events


HGVS 1st Council Elections

The first council elections for HGVS were held between 6 to 16 March 2003. 50% of the membership participated in the vote. The Officers elected to Council were:

Elected Unopposed:

President: Richard Cotton (Melbourne, Australia)

Secretary/Treasurer: Bill Oetting (Minneapolis, U.S.A.)

Board of Directors:

3 year terms:

Den Dunnen Johan (Leiden, The Netherlands)
Lehvaslaiho Heikki (Cambridge, UK)
Scriver Charles (Montreal, Canada)
Shimizu Nobuyoshi (Keio, Japan)

2 year terms:
Auerbach Arleen (New York, U.S.A.)
Brookes Tony (Stockholm, Sweden)
Brown Alastair (Edinburgh, UK)
Vihinen Mauno (Tampere, Finland)

1 year term:

Beroud Christophe (Montpellier, France)
Cuticchia A. Jamie (North Carolina, U.S.A)
Talbot Jr. Conover (Baltimore, U.S.A.)

Forthcoming Meetings of Interest

HGVS Scientific Meeting Cancun, 27th April; Still time to send an abstract by April 22-see details below.

Mutation Detection Workshop, Palm Cove, Australia; closing date for abstracts is 28 April. An impressive list of invited speakers. This is a satellite of the International Congress of Human Genetics in Melbourne.



All members who wish to make an announcement of interest to members in these newsletters please send a short paragraph to Rania at ( to be included in the next issue.

New ARPKD/PKHD1 Mutation Database

Autosomal Recessive Polycystic Kidney Disease (PKHD1; MIM 606702)

Curators: Carsten Bergmann, Klaus Zerres Dept. of Human Genetics, Aachen University, Aachen Germany

ALFRED- THE ALele FREquency Database

A resource of gene frequency data on human populations.

Curators: Kidd Lab, Genetics Dept. of the Yale School of Medicine, USA

The Homo Sapiens FMO3 Allelic Variant Database

Flavin-containing monooxygenase 3 (FMO3; MIM 136132) Trimethylaminuria (Fish Odour Syndrome)

Curators: Elizabeth A. Shephard, Sarah Addou Dept. Biochem. & Molecular Biol. Univ. College London & Ian R. Phillips Sch. Bio. Sc. Queen Mary, Univ. of London , UK


HGVS Scientific Meeting

Date: Sunday 27th April, 2003
Time: 9:00AM - 1:30PM
Venue: Xcaret Room 3, Cancun Convention Centre, Cancun, Mexico
Registration: Register here

We are requesting abstracts to be sent in by April 22 NO LATER. All abstracts relating to human genome variation, especially those with a database of variations or nomenclature slant will be considered. Registrations without presentations are also accepted.

All HGVS members & others are invited to send in an abstract. (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

Mutation Detection 2003

VII International Symposium on Mutations in the Genome

Date: Wed 2nd July - Sunday 6 July, 2003
Venue: The Novotel Palm Cove Resort, Palm Cove, Tropical North Queensland, Australia
More Information:
Abstracts: Closing date is April 28. Registrations without presentations are also accepted. Strictly a limited number of participants. Not limited to human mutations, any organism welcome.
Satellite of: XIX International Congress of Genetics "Genomes-The Linkage to Life" 6 - 12 July, 2003 Melbourne, Australia
Scientific & Organizing Committee: Richard G. H. Cotton (Australia)
Ann-Christine Syvanen (Sweden)
Barney Rudzki (Australia)
Melissa Barker (Australia)
Andrej Kilian (Australia)
Social Programme: We have organised a great social programme including a trip to the World Heritage Great Barrier Reef!

Workshop on Mutant p53

Date: 30 June to 3rd Iuly 2003
Venue: International Agency for Research on Cancer (WHO), Lyon, France
More Information:
Goals: One of our goals, apart from reviewing the state of the art on "Mutant p53", is to discuss the standardization of functional assays and of clinical annotations for future development of the p53 mutation database.
Contact: Pierre Hainaut, Chief, Unit of Molecular Carcinogenesis IARC:


1st ANNOUNCEMENT - HGVS Scientific and Annual General Meeting

Los Angeles, CA, U.S.A


Tuesday 4th November 2003

The biggest HGVS event of the year! Mark this in your diary.

Venue: ASHG Conference Hotel: The Biltmore Los Angeles, Los Angeles, CA, U.S.A.

Registration: 8:00AM
Conference Start: 8:30AM
Conference finish 7:00PM
Mixer: 7:00PM- 8:00PM

More Information: To appear on our Website around May.
Abstracts: Closing date is 12th October 2003. Registrations without presentations are also accepted.
Associated with: An ancillary meeting of the American Society of Human Genetics Annual Meeting

To join the HGVS - click here

© Copyright HUGO MDI 2003 Created by Rania Horaitis Posted April 17, 2003
Coordinator Rania Horaitis