Research Model 3: Dominant Disorder

Research is performed by the advocacy group together with the researcher(s).

Mission: The Tuberous Sclerosis Alliance is dedicated to finding a cure for tuberous sclerosis while improving the lives of those affected.

The Problem: Initially used a peer-review, independent researcher system based on the National Institutes of Health model. Research lacked focus and direction.

Approach: In 1998, NTSA established the Center Without Walls Research Consortium - a consortium with the following goals:

• International in scope
• Open collaboration and information sharing to minimize duplication of effort and stimulate rapid progress
• Establishment of shared resources: antibodies, animal models of TSC, cell lines, tissue samples, etc.
• Collaboration between basic and clinical researchers to ensure rapid translation from bench to bedside
• Funds provided for travel to semi-annual CWW meetings and for travel between labs for collaborations
• Multi-year grant awards to minimize time lost writing grant applications
• Targeted research to maximize progress in specific areas of research
• Maintenance of high standards of peer-reviewed research (NIH model)

Results

• $1,000,000 in research funds provided to 19 researchers at 12 institutions in the U.S., U.K. and The Netherlands
• NTSA and NIH co-sponsored Tuberous Sclerosis Consensus Conference
• Revised clinical diagnostic criteria and screening recommendations published in two publications in Journal of Child Neurology, and in Archives of Neurology
• Meetings of Center Without Walls researchers held to foster collaboration
• Knockout mouse models for both TSC1 and TSC2 characterized and distributed, Drosophila models for TSC1 and TSC2 identified, continued characterization of Eker rat model
• Human cell lines, antibodies, and other resources developed and shared
• Meeting held in the U.K. to discuss cognitive development and mental disability
• House resolution submitted requesting increased funding for TSC research
• Research strategic planning in 2001
• External review of Center Without Walls set for Spring 2001
• Active participation of TSC community in research efforts through sample and tissue donation, responses to questionnaires, etc.

There are probably as many possible models as there are groups. Our hope is that by having presenting this information, we can save other groups the years of wasted effort and possibly the loss of trust of their members by providing ideas on how they can take control of the process. After all, the real goal of any research is to help the affected families. If the families guide the process, then it is more likely that they will be happy with the outcome.

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