The 8th International HUGO Mutation Database Initiative Meeting Vancouver 9 April, 2000 Synopsis

(To full report)

A full report of this meeting will appear both on this website and in an issue of Human Mutation.

The 30 attendees first heard Dr. Rick Firestone speak on the Nuclear Science Database. This was established 60 years ago and began in a similar way to the locus specific database community with individual researchers publishing their own databases. In the 1970's a working group was established and protocols and formats were adopted to produce a standard database with evaluators reviewing the data. Support is from universities, government agencies and private publishers. The latter charge for hardcopy dissemination of nuclear data. The nuclear physics example shows that nuclear physics has managed to build comprehensive, very powerful databases by adopting a system based on I) a funded center which performs organization and computing tasks for the effort,which in turn supports ii) a worldwide networks of volunteers. Experience shows that researchers who joined the new system found that they were able to get more done by joining a collective effort than was formerly possible when each operated his or her own separate facility. Many researchers have also used the new community-wide facility to make their own, more specialized databases bigger and stronger than would otherwise be possible. The situation is the 1970's is strikingly similar to our situation in the late 1990's.

The remainder of the meeting was spent discussing in detail the specifications that had been produced by 85 of the 600 members of the HUGO-MDI. (see These specifications depend on an entry form produced by 39 members of the community (see In general, the meeting confirmed the specifications however there was much discussion over the suggested strategy to have industry develop the system and hand it back for operation by the MDI. The rationale here is that the gain for industry is that they will have access to an efficient accurate system run by experts in each gene-the vision of HUGO-MDI. Many were concerned that the system was to be totally handed over to industry or a central body and that the community would lose control. However, as the former GDB collapsed because of too much central control that lesson has been well learnt.

The meeting passed the following resolutions:

  1. That the HUGO-MDI be spoken for by its representatives Richard G.H. Cotton, Stephen M. Maurer and Charles R. Scriver with reference to the stakeholders group, HUGO-MDI members and the agreed specifications and resolutions.
  2. Specifications are adopted subject to resolutions.
  3. Agree with stakeholders list supplied.
  4. Community members urged to pledge and support and to get others to do so by May 30.
  5. Jamie Cuticchia of GDB to proceed with prototype of system.

Most of the meeting participants signed the pledge (see pledge and accompanying letter at: and since the meeting a campaign has begun to obtain a maximum of pledges before industry is approached in Summer.

The plan discussed at the meeting was to have some experts design the system according to the specifications and then have industry cost it and build it. However, since the meeting some MDI members have offered to design and cost components of the system and build it themselves if industry funds were forthcoming for their particular design. This resulted in all the MDI community being invited to design and cost components of the system. (see

The plan now is to maximize pledges for the approach to industry in Summer and the final plan to be approved by our next meeting in Philadelphia on October 3.

All MDI members are urged to ask what they can do and at a minimum to sign the pledge as a supporter. Non members should become a member (see form at; and sign the pledge. Further information can be obtained as follows:

R.G.H. Cotton (Convenor)- Community & Publication Aspects
C.R. Scriver -Locus-specific Database aspects
S.M. Maurer-Industry & General database aspects
O. Horaitis-Community Coordinator

* Support of the March of Dimes & HUGO has been essential for this initiative's progress so far and is appreciated.

(To full report)

Posted 12 May, 2000. Any queries about the MDI should be directed to Rania Horaitis ( We welcome your input.