Research Model 2: Chromosomal Disorder
- Jannine Cody, Ph.D.
- Founder, Chromosome 18 Research Registry
- Chairperson, Genetic Alliance
This model for the Chromosome 18 Registry and Research Society evolved after many false starts. We began by trying to find every researcher who might possibly be interested.
Since our kids have chromosome abnormalities that were essentially undescribed, we felt that there were a thousand questions that we wanted answered. We did not have a singular primary goal like "find the gene." So we encouraged our members to participate in most any project that we knew about, which led to problems. For example, one researcher was getting blood samples from families using a consent form for a completely unrelated condition; it was for a blood draw but for another research project. Some families sent MRI films or medical records and then would never hear from the researcher again—even after repeated phone calls.
The biggest problem was that when one researcher with a good idea came along, the families that had already participated in a project did not want to participate in another project. Since our kids have rare conditions, there were not enough families to participate if they were split among projects.
Fearing the loss of trust of our members if they participated in projects and then were unhappy with the outcome, we took control of the situation. We set our own goals and priorities (based in part on what was fundable) then began to establish our own group of researchers.
Research is conducted with the advocacy organizations, and the researchers are all located at one research site.
Mission: To help individuals with chromosome 18 abnormalities overcome the obstacles they face so they might lead happy, healthy and productive lives.
The syndromes of chromosome 18 are:
- Rare syndromes
- Poorly described clinically
- Little natural history information
- Little known about the genes involved
- Multisystem nature of chromosome abnormalities means that a comprehensive evaluation will involve many medical and educational specialists
- Establish a single, interdisciplinary center
- Bring as many affected families as possible into the organization
- Advocate for more research dollars for chromosome 18 research
- Establish a single clinical research center focusing on those problems directly affecting families
- Unify clinical data
- Families have a single contact point
- Comprehensive clinical evaluation performed by single team
- Award research grants to outside investigators whose projects do not involve family contact (future goal)
- Communicate research information back to the families
- Over 1,000 families have joined the organization
- For the past three years, congressional appropriations committee reports have urged NIH to increase effort into chromosome 18 abnormalities
- Over 50% of the operating budget is directly spent on research
- Over 100 families have participated in the research (limited only by funding)
- 12 peer-reviewed publications since 1997 from this research center
- In spring 2001, NIH held the Chromosome 18 Syndromes Conference.
- In summer 2004, the Chromosome 18 Registry & Research Society held the World Congress on Chromosome Abnormalities
- Barriers to Rare Disease Research
- Benefits of Collaboration with Advocacy Organization Community
- Blood and Tissue Banks
- Consumers and Researchers
- Educating Membership about Research
- Facilitating Quality Research
- Funding Research by Others
- Getting Needs onto the Research Agenda
- Genetic Privacy
- Orphan Drug Application
- Patient's Bill of Rights
- Promoting Research
- Research Models