Disease Specific Databases: why do we need them?
A Satellite of the ESHG meeting
Download meeting program here.
The Human Variome Project is an International Initiative with a goal of understanding genetic variation and using this information to improve human health through the control of genetic disease.
While many databases currently exist and are performing a vital function within the overall genetic information collection scheme, many more databases need to be created, particularly around specific diseases. The Human Variome Project believes that the societies and support groups based around particular diseases have an important role to play here. As such, the Human Variome Project, via the Coordinating office has been reaching out to these societies, encouraging them to create new databases to fill in the gaps within the current database landscape. This meeting will focus on why disease specific databases are necessary from the viewpoints of both the clinician and researcher and through discussion, will raise issues of how the current databases available are lacking and what future databases will need to address the current problems.
An early adopter of this scheme is the InSiGHT Group: the International Society for Gastrointestinal Hereditary Tumours. InSiGHT has been involved in the Human Variome Project since its inception in 2006, and has already begun an aggressive process of combining and consolidating the disparate databases for the mismatch repair genes associated with colorectal cancer. The Chair of this meeting Professor Finlay Macrae will be sharing the InSiGHT experience in creating a Disease Specific Database.
Invited Speaker
Arthur L. Beaudet
Henry and Emma Meyer Professor and Chair
Department of Molecular and Human Genetics
Baylor College of Medicine
Houston, TX
"Importance of world-wide identification of all autosomal recessive mutations"
Other distinguished speakers will be invited to discuss the problems of current and needs of future disease specific databases.
We encourage delegates to bring their ideas from many related disciplines and participate in the ample time allocated for discussion.
Abstract Submission
We invite abstracts in the field of disease specific databases whether it be from a clinical, research or bioinformatics perspective.
Details
St. John's Rooms I & IINH Grand Hotel Krasnapolsky
Dam Square 9
Amsterdam
Netherlands
Registration: 8.30 am - 9.00 am
Meeting Start: 9.00 am
Meeting End: 3.00 pm (coffee break to follow for those not in a hurry!)
Registration Fees
The registration is FREE but ONLY for the 1st 80 registrants. Anyone registering after the 1st 80 will need to pay 100 Euro to attend, this will become apparant to you during the registration procedure.
| All costs in Euro | |
|---|---|
| Category | Cost |
| 1st 80 registrants | FREE |
| 80 + registrant | 100 |
Accommodation
If you are attending the ESHG meeting you should use the Accommodation booking service of that meeting as we will NOT be arranging any accommodation. Alternatively you can try to book a room yourself in the meeting hotel using this link.