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Human Variome Project Planning Meeting

 
  January 18, 2008  
     
 


The Human Variome Project, San Feliu de Guixols, Costa Brava, Spain
25 - 29 May, 2008


imageIt is widely accepted that data on gene variations especially those causing singe gene disorder, are extremely valuable in the clinic, diagnostic laboratory and to research. It is also accepted that databasing of such variants and their phenotype is far from satisfactory. Many aspects of databasing of other classes of variants, thought to cause common disease, are also unsatisfactory. This problem led to the concept of the Human Variome Project which provides a focus to generate the necessary activity in the area. An inaugural meeting on the topic in June 2006 (www.humanvariomeproject.org) provided 96 recommendations (Cotton et al 2007; Recommendations of the 2006 Human Variome Project Meeting, Nat. Gen. 39:433-436) which need to be implemented to improve the current situation. Achieving the HVP goals will improve Genetic Healthcare and research worldwide

Many individuals have been working towards a better genetic outcome Many have been working in isolation and as such their work is not widely known. This is a natural consequence of the myriad of inherited diseases that have now been discovered, and similar systems have been or will be developed in isolation, thus wasting valuable funds. This means that solutions to many problems may now be available and simply need to be adapted to other genes or improved.

This planning meeting has been designed to maximize exposure of the field, with an emphasis on single gene disorder, (where the need is most on the clinical level) to the various systems available and planned to enhance cross collaboration and avoid unnecessary work and expense.

We expect the meeting to consolidate or generate key subprojects similar to the HVP/Insight initiative to pilot data flow from patient to central database. These subprojects will relate to the topics of the 96 recommendations which were aggregated to working groups in February 2007.

Thus, we will ensure that a range of individuals, both invited and registered with key projects completed, underway or planned across all types of inherited disease will be encouraged to attend this meeting. Naturally those involved with central databasing /browsing and common disease will also need to be involved.

The aim of the HVP is to generate a common system which can be applied to all genes in all countries to collect variations and their effects.

We therefore invite all individuals involved or interested in the field to participate with us in the formulation and planning of this ambitious project to register for the meeting at www.humanvariomeproject.org/2008meeting

Meeting Format

Rather than dividing the topic into areas of need as occurred with the first meeting, the meeting will be divided into the components necessary for the complete system and to satisfy the 96 recommendations. Some of these relate to the February Working Groups (confirmed members attached) which will be confirmed/finalized at the end of the meeting.

  • Ethics
  • Data collection from laboratories
  • Data collection from clinics
  • Data transfer & databasing (gene specific ) (LSDB)
  • Data transfer/browsing & databasing (general)
  • Assessment of pathogenicity & translational healthcare
  • Publication, credit & incentives
  • Developing/Emerging countries & world wide collection
  • Funding mechanisms & governance
  • Pilot projects already covering several components

 

Each topic will have discussion leaders who will initiate the discussion by a keynote lecture. Discussion leaders will decide who is to deliver the lecture or the other Chair the lecture. Further shorter lectures will be by others working or interested in that topic. Key individuals unable to attend will be asked to submit a structured one page article and published papers on their relevant work for inclusion in the discussion and planning. The discussion leaders will be responsible for discussion sessions and will write a three page document which includes a sentence on each topic which will need to be worked on. One page is expected to be a dense review of current work. We would hope to publish the total article in a major journal so that others may assist and assess the plans. Material for each topic can then be used as a basis for grant applications.

 
 
Organized by: Genomic Disorders Research Centre
Invited Speakers: TBA  see the Program on the Website for Invited Discussion Leaders
 
Deadline for Abstracts: 21st March 2008
 
Registration:

Abstracts

We invite submission of abstracts for the Planning Meeting in each of the specific topics listed above. You are welcome to register for the meeting without submitting an abstract.

Details

Sunday 25th May to Thursday 29th May 2008

It is EXPECTED that all attendees arrive on the 25th so discussions can take place prompty in the morning of the 26th. Attendees are EXPECTED to stay for the duration of the conference until 12.00PM on the 29th May.

The meeting will be held at the Hotel Eden Roc in San Feliu de Guixols on the Costa Brava in Spain (www.caproig.com). See the Details page for more information about the venue including transport information.

Registration

Fee includes administrative costs, accommodation for the nights of 25 -28 May (4 nights) and all meals.

Earlybird; until 31st March 2008: Euro 750
Regular; from 1st April 2008: Euro 800

There is an accompanying persons package for those people not attending the conference for accommodation and all meals at Euro 360. These must be booked at the time of registration.

http://www.humanvariomeproject.org/HVP2008/registration.html

E-mail: rania@gdrc.hfi.unimelb.edu.au
 
   
 
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