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HUGO Mutation Database InitiativeNewsletter No. 15 |
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MDI mailed out to all those who pledged their support last year for them to join a consortium of LSDB curators within the MDI. Those willing to join this consortium agree to work under the Incyte MOU discussed in the Philadelphia Meeting Report (see: http://www.genomic.unimelb.edu.au/mdi/meetings/philly.html) and share their data with the planned Central depository and Waystation, in exchange they will be able to receive data from the WayStation as well as software tools if required. We have had a great response and are waiting for a few more people to respond. If you would like to join this consortium please respond in the next week if you have not already done so.
As new genes are constantly being discovered, mutations will likely be found in these genes. A pilot campaign to recruit Gene Editors for specific genes that do not have a LSDB associated with it yet has begun. In the proposed system, human variation data will be submitted directly to the WayStation, and then sent to specific Gene Editors or LSDB curators for evaluation because they can review it most properly. After review, data will be deposited into any relevant existing LSDB as well as into a central database. At present we need Gene Editors to volunteer to curate the gene/s of their choice. So far, we have had an enthusiastic response however we still need more. Data will be sent as a form a handful of times a year to review. If you would like to participate by joining our growing group in this revolutionary approach to collecting variations please contact Rania (horaitis@medstv.unimelb.edu.au)
There has been no change in the situation since we received an offer from Incyte Genomics to fund the Central Depository.
We have had talks with Lisa Brooks from NIH (U.S.A) and we have been encouraged to submit a grant application for funding of the Central depository and its coordination. It was suggested we encourage funding for LSDBs through NIH grants. For example, if an investigator submits an application for research on a particular disease, funding of a database for the genes involved may be included as a subcomponent of the application, i.e. investigators are encouraged to apply for database funding through their main grants but not individually for the database only. (The only possible restriction is that the Principal Investigator is in the U.S.A. We encourage you all to do this if applicable).
As discussed at the Philadelphia meeting, we are in the process of forming an official Variation Society. The bylaws have been written up and legal proceedings are underway, you will be sent the proposed Bylaws before they are finalized. The Society journal that has been proposed is "Human Mutation", negotiations are underway with the publisher John Wiley and Sons Inc. however, we need to have the Society finalized so that someone with authority is able to sign the agreement.
It has been brought to our attention that the also.org database (see below) has received corporate funding with no constraints on the database in exchange for advertising of company logos on the homepage of the database. All LSDBs and potential LSDBs are encouraged to gain funding in this manner to support their activities.
The following databases have recently been released:
1. Database on Transthyretin Mutations (TTR- OMIM 176300) http://www.ibmc.up.pt/~mjsaraiv/ttrmut.html
Curator: Maria Joćo Mascarenhas Saraiva, Amyloid Unit, Institute of Molecular & Cellular Biology, Porto, Portugal
2. alsod.org. An online database for ALS/SOD1 genetic mutations (SOD1-OMIM 147450) http://www.alsod.org
Curators: ALS/SOD1 consortium
3. Retina International's Mutation Databases (is probably not new but I have just been made aware of it) http://www.irpa.org/sci-news/mutation.htm
Curators: Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory, Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics, University of Regensburg, Germany
4. The Frequency of Inherited Disorders Database (FIDD). A repository of published data on the frequency of inherited human disorders. http://www.uwcm.ac.uk/uwcm/mg/fidd/
Curators: Institute of Medical Genetics, Cardiff, UK.
Ref: Al-Jader LN, Harper PS, Krawczak M, Palmer SR, Johansen BN and Cooper DN, Hum Genet (2001) 108:72-74
5. CSNP Map & Database for Human Chromosome 21 http://csnp.isb-sib.ch
Curators: Division of Medical Genetics, Univ. of Geneva Medical School & Swiss Institute of Bioinformatics
Ref: Deutsch S., Iseli C., Bucher P., Antonarakis SE., and Scott HS. Genome Research (2001) 11(2): 300
All MDI members and others are invited and encouraged to submit abstracts of original, current work for possible presentation at the meeting. Please submit electronically via email to Rania (horaitis@medstv.unimelb.edu.au). Authors will be notified by email of acceptance and whether they will be presenting an oral or poster presentation. You do not need to submit an abstract to attend the meeting. This meeting will be a scientific meeting, there will be one hour at the end for a business meeting. Deadline for abstracts March 31. If you do not submit early, we may not be able to accommodate an oral presentation.
Details:
DATE: Thursday April 19, 2001Registration: 12.30PMVENUE: Edinburgh International Conference Centre
Start: 1.00PM
Finish: 5.00-5.30PM
http://www.genomic.unimelb.edu.au/mdi/meetings/scotty.htmlORGANISERS:
R. Horaitis, R.G.H. Cotton (Melbourne)
horaitis@medstv.unimelb.edu.au
Fax: 61-3-9288-2989
We look forward to seeing you there!
***Richard G.H. Cotton (Melbourne)
Anne-Christine Syvanen (Uppsala)
Damjan Glavac (Ljubljana)
Metka Ravnik-Glavac (Ljubljana)
ABSTRACTS: To be received by March 15 deadline.
Details at: http://www.mutations2001.bled.si/
***R. Horaitis, R.G.H. Cotton (Melbourne)
horaitis@medstv.unimelb.edu.au
Fax: 61-3-9288-2989
This meeting will be held in association with the American Society of Human Genetics Annual Meeting. It will be a full day meeting from 8.30AM to ~7.30PM Details will follow after the Edinburgh meeting. Please mark this date in your diary.
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Coordinator Rania Horaitis horaitis@mail.medstv.unimelb.edu.au |