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(Previous HGVS & HUGO-MDI newsletters may be found on our website at: www.genomic.unimelb.edu.au/hgvs/newsletters.html, these may be helpful for new members to familiarize themselves with our projects).
Elections
Minutes of Annual General Meeting of HGVS
Membership Dues
Mutation Databases Update to Links
Exon Skipping as a Therapy for Genetic Disorders
Joint HGVS & HGNC Meeting on "Copy Number Variation"
HGVS Scientific & Annual General Meeting
Mutation Detection Training Course, Leiden - 2006
6th Australasian Mutation Detection Meeting - 2006
Elections
All members will have received a ballot by email send on December 2 nd . If you have not already voted and would like to do so, please send your vote in by 31 st December. Results will be made available on the 1 st week of January 2006.
Minutes of Annual General Meeting of HGVS
The minutes of the AGM ; Salt Lake City , Utah , USA . 25 th October 2005 were sent via email to all members on 29 th November. If you did not receive them or wish to review them now they are available online at: http:// www.hgvs.org/minutes.html . Please advise of any errors/changes.
If you would like to renew your membership but have still not sent in your dues form, please do so promptly as your Human Mutation subscription will expire shortly. To avoid this, your membership dues must be received and processed by the end of the year. We remind you that there are new options of membership this year. See the membership page online for a description and the membership form at http://www.hgvs.org/mem.html .
The lists of Locus Specific Mutation Databases on the HGVS website is undergoing a comprehensive update. If you are a database curator and have not already done so recently, can you please look at your links and let Rania know of any errors, changes or additions. Ideally we hope to have the new list online before the end of the year. http://www.hgvs.org/dblist/glsdb.html.
CORRESPONDENCE
Anyone wishing to make an announcement of interest to members in these newsletters please send a short paragraph to Rania at (rania@gdrc.hfi.unimelb.edu.au) to be included in the next issue.
Dear Colleague,
You are a specialist of a genetic disease or of a group of genetic diseases, and we are very pleased to con tact you. We are exploring the possibilities of applying exon skipping as a therapy for genetic disorders. As a first step we would like to know if, theoretically, this technique could be applied to your favorite gene(s).
This information could be the basis for a support from the AFM (French Muscular Dystrophy Association) to eligible genes / diseases and to teams trying to develop such therapy.
Some of the criteria you could con sider could be:
* Data on partially deleted protein (internal deletions) associated with a functional or partially functional protein in animal models,
* Deletions of one or more exons reported in patients with a mild phenotype,
* Various forms of the disease associated with various types of mutations...
but they are not exclusive of course.
Your answers will be of great help and we are looking forward to read you soon. If you need any detail, please do not hesitate to con tact us.
With our best regards,
Anne d'Andon, MD
AFM (French Muscular Dystrophy Association)
Director of therapeutic developments
1 rue de l'Internationale, 91000 Evry - France
adandon@afm.genethon.fr
Christophe Beroud,
HGVS Board member ,
PharmD, PhD, assistant Professor,
Laboratoire de génétique Moléculaire et Chromosomique,
641, avenue du doyen Gaston GIRAUD 34093 Montpellier - France
Christophe.Beroud@igh.cnrs.fr
(A satellite of HUGO's HGM)
Wednesday 31st May 2005
Helsinki Fair Centre
Abstract Closing Date 24 th February 2006
Abstracts are invited from all attendees however you do not have to present an abstract to attend the meeting . Abstracts related to Copy Number Variation will be highly regarded.
See: http://www.hgvs.org/meetings/FIN.html for more details
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Monday 9th October 2006
8:00AM to 8:00PM
New Orleans , Louisiana , U.S.A.
Abstract Closing Date 13 th June 2006
See: http://www.hgvs.org/meetings/NO.html for more details.
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This time, this biennial course will be held in Leiden , the Netherlands .
The course will take place from 31st August to 4th September 2006 and is organised by Dr. Johan T. den Dunnen ( Leiden Genome Technology Center ).
These popular small courses aim to provide an overview of current technology and applications via a mixture of practical demonstrations, laboratory work and lectures with a combination of top-level speakers and laboratory demonstrations. Participants are from around the world.
See: http://mdtc2006.hugo-international.org/home/index.php
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2 – 5 August 2006
Couran Cove, South Stradbroke Island, QLD, Australia
This meeting is a satellite to the International the 11th Congress of Human Genetics to be held nearby in Brisbane.
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