HUGO Mutation Database Initiative Newsletter No. 17

INSIDE THIS ISSUE:

MDI NEWS

. Notice of Society Inaugural Meeting

. Notice of Scientific Meeting

. Poster at ASHG on MDI central database plan

. Exhibitors booth at ASHG

. Membership

CORRESPONDENCE - none this issue

ANNOUNCING NEW DATABASES

– Multiple Endocrine Neoplasia type 1 (MEN1)

CALENDAR OF EVENTS

- MDI meeting, 12th October, 2001, San Diego, CA, U.S.A

- HUGO Mutation Detection Training Course, 2002, Montpellier, France

MDI news

Notice of Society Inaugural Meeting

Attached is the notification of the inaugural meeting of the Human Genetic Variation Society (name under discussion) that will be formed from the HUGO-MDI. All members are encouraged to attend if possible. The key business items can be seen in the program but the Name of the Society, subscription and its tie in to Human Mutation subscription and Bylaws need discussion.

Notice of Scientific Meeting

The scientific meeting will preceed the business meeting and the program is below. Registration for the scientific and business meeting can be done at: http://www.genomic.unimelb.edu.au/mdi/meetings/diegoreg.html

Poster at ASHG on MDI central database plan

The MDI members that applied for an NIH grant to fund the WayStation/Office/WareHouse central database system have prepared a poster outlining the plans to be presented at the American Society of Human Genetics Annual Meeting next week. It is poster number 1553/M (presentation Monday 1:30-3:30PM). Please come along if you are at the meeting.

Exhibitors booth at ASHG

Once again for the 2nd year MDI is sharing an exhibitors booth with HUGO nomenclature committee at the ASHG meeting. It is number 737. This is between the HUGO and BiSC/GDB booths. Please come along if you are at ASHG so we can meet you and you can discuss any queries you may have.

Membership

At or after the HUGO-MDI meeting you are all encouraged to join the new Society that is likely to include a subscription to the Society journal Human Mutation. Forms will be circulated later. Besides their interest in databases the meeting will discuss the extension of the Society’s interest to Mutation Detection.

Announcing new database

Multiple Endocrine Neoplasia type 1 (MEN1 OMIM 131100)
www.umd.necker.fr:2006/

Curators: Alain Calender, Genetic Unit and INSERM U45, Hôpital Edouard Herriot, LYON, France, Christophe Béroud, INSERM Hôpital Necker, Paris,France, Cécile Vercherat, Genetic Unit and INSERM U45, Hôpital Edouard Herriot, LYON, France

Calendar of events

MDI Meeting
San Diego, California, U.S.A.
12th October 2001
http://www.genomic.unimelb.edu.au/mdi/meetings/sandiego.html

THIS IS YOUR LAST CHANCE!

DATE:	Friday 12 October, 2001
TIME:		
Registration: 8.00AM 
Start: 8.30AM
Finish: 7.00PM 
VENUE: 	Point Loma Room
		San Diego Marriott Hotel
		San Diego, California, U.S.A.
REGISTRATION:
Academic & non-commercial registrants:		US$90
Commercial registrants: 				US$135
Registration form at: 
http://www.genomic.unimelb.edu.au/mdi/meetings/diegoreg.html
Registration covers all administration costs including room rental etc., a full buffet
lunch and all breaks as well as a mixer at the end.
We would like to thank GENAISSANCE for their generous donation to this meeting.
ORGANISERS: 	R. Horaitis, R.G.H. Cotton 
Fax: 61-3-9288-2989 
Email: horaitis@medstv.unimelb.edu.au

PROGRAM:

8.00		Registration & Coffee

8.30		Welcome-	Richard Cotton

CHAIR- HEIKKI LEHVASLAIHO

8.45	Beyond mutation databases - Immunodeficiency knowledge base: 
immunodeficiency resource (IDR)  Mauno Vihinen



9.10	eMelanoBase: An online disease-specific variant database for familial melanoma 
David C. Y. Fung



9.35	Towards Integrated Databases For Genetic Variation in the Dopamine And
Serotonin Systems  Markers For Behavioural Disorders- Ian Craig

10.00	The Fanconi Anemia Mutation Database  Arleen D. Auerbach

10.20		Coffee break

CHAIR- ARLEEN D. AUERBACH

10.50	DmuDB: a Diagnostic Mutation Database Michaela Aldred

11.20	The Arab Genetic Disease Database: The First Release -Saeed Teebi 

	
11.50	Continuing Developments in the BiSC WayStation - Saeed Teebi

12.20	WareHouse Update & Plans  Heikki Lehväslaiho

13.00	Buffet Lunch

	
14.0	BUSINESS MEETING  - Inaugural Meeting of the Human Genetic Variation Society

CHAIR- RICHARD G. H. COTTON

Chairman’s report  Richard G.H. Cotton

Secretary/Treasurer’s report  William Oetting

Objectives of Society

Discussion of Bylaws & Acceptance

Officers and Board members 
Chair; Cotton R. 
Secretary/Treasurer Oetting Bill 
Council Members: Auerbach A., Beroud A., Beutler E., Brookes A., Brown A.,
Cuticchia J., Dalgleish R.*, Darlison M.*, Den Dunnen J.T., Gottlieb B., 
Lehväslaiho H., McKusick V., Scriver C., Shimizu N., Talbot Jr., Connover, 
Taylor G., Tuddenham E., Vihinen Mauno, Wallace D*.  (*not confirmed)

Ratification of Name

Formal Establishment

Human Mutation and MDI Society Affiliation/Ratification of Affiliation Agreement 
between Wiley and the MDI  C. Bean, John Wiley & Sons and Richard Cotton

Setting of MDI Society member subscription rate for Human Mutation C. Bean, 
John Wiley & Sons and Richard Cotton

Human Mutation and MDI collaboration regarding publication of Gene Variation Reports
(GVRs)  Mark Paalman, Human Mutation.

Other business:
·	NIH grant application. 
·	Ethical Standards. 
·	Clinical Mutations.
·	WayStation/WareHouse/Office reviews.
·	Sustainability.
·	Ability to obtain LSDB commitment- Darlison M.
·	Advisory Committee for NIH grant application: 
Antonarakis, Stylianos E.; Beroud, Christophe; Beutler, Ernest; Brown,
Alastair; Chakravarti, Aravinda; Dalgleish, Raymond; Darlison, Matthew; Gottlieb,
Bruce; Kazazian Jr, Haig. H.; Oetting, William; Shimizu, Nobuyoshi; Valle, David;
Van Ommen, Gert-Jan; Vihinen, Mauno

Next meeting.

18.00	Mixer 

19:00	Meeting Ends

--

1st Announcement

3RD HUGO MUTATION DETECTION TRAINING COURSE
30th August to 3rd September 2002

University & Hospital of Montpellier, Montpellier, France
Organiser: Prof Mireille Claustres (France) 
Course Co-ordinator: Graham Taylor (UK) 
Advisors: Richard G H Cotton (Australia), Johan Den Dunnen (Holland), 
Ann-Christine Syvänen (Sweden), Mario Tosi (France)

We are pleased to announce that the 2002 HUGO Mutation Detection Course will be set 
in the beautiful surroundings of Montpellier. As usual it will provide a combination
of lectures, demonstrations and practical classes to give participants experience with
current and emerging technologies for mutation scanning and genotyping. Participants 
should plan to arrive on Friday evening (30th) and the course ends on Tuesday (3rd).
These popular courses are aimed at post graduate and medical scientists who wish to 
broaden their experience of mutation detection technology and offers an excellent
opportunity to meet colleagues and experienced practitioners working in the area. 

The meeting web-site at: http://www.leeds.ac.uk/cmgs/hugo/ 
will have more details regarding registration, speakers, programme etc. from mid-November.

EXPRESSION OF INTEREST
If you are interested in receiving further details on the Mutation Detection Course as 
soon as they are available, please email your contact information to the Meeting 
Secretariat at:

HUGO MUDTC
HUGO, 
144 Harley St, 
London 
W1G 7LD, 
UK 

Tel: [44] (171) 935 8085 
Fax: [44] (171) 935 8341 
email hugo@hugo-international.org