Part II of the Genetic Alliance Interactive Guide

Research Model 2: Chromosomal Disorder

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 the answers to. 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.

Jannine Cody, PhD
Chromosome 18 Research Registry
Past President, Genetic Alliance

Research is conducted with the advocacy group, 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 Problem

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.

The Approach

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

Results

Over 1000 families have joined the organization.
For the past 3 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 a Chromosome 18 Syndromes Conference.
In Summer 2004, Chromosome 18 Reg & Res will hold a World Chromo Meeting.

» Research Model 3: Dominant Disorder

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Maintained by the Genetic Alliance.
The Interactive Guide to Advocacy Groups was written by Sharon Fontaine Terry and Caitlin Burke, with contributions from Genetic Alliance members. The Interactive Guide to Building Advocacy Groups is made available under a Creative Commons license. You may make and share copies of this work for noncommercial purposes without modifications and with this acknowledgement included in full. More information is available at About the Interactive Guide to Building Advocacy Groups.

Send feedback about the Interactive Guide.

SEPTEMBER 2004: This is a preliminary installation of the Interactive Guide to Advocacy Groups. We need your feedback. Make comments on specific pages (you may see error messages, but comments should still post), or send email. Is something missing? Can we make it easier to navigate? This Guide will change regularly over the next few months as we incorporate changes and fine tune the site. Thank you!

AN INTERACTIVE GUIDE TO BUILDING ADVOCACY GROUPS
Part II
Part I Part II Assessment Structure Resources Support Education Research Advocacy Part III	Research Model 2: Chromosomal Disorder 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 the answers to. 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. Jannine Cody, PhD Chromosome 18 Research Registry Past President, Genetic Alliance Research is conducted with the advocacy group, 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 Problem 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. The Approach 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 Results Over 1000 families have joined the organization. For the past 3 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 a Chromosome 18 Syndromes Conference. In Summer 2004, Chromosome 18 Reg & Res will hold a World Chromo Meeting. » Research Model 3: Dominant Disorder Privacy Policy - Disclaimer - Funding Maintained by the Genetic Alliance. The Interactive Guide to Advocacy Groups was written by Sharon Fontaine Terry and Caitlin Burke, with contributions from Genetic Alliance members. The Interactive Guide to Building Advocacy Groups is made available under a Creative Commons license. You may make and share copies of this work for noncommercial purposes without modifications and with this acknowledgement included in full. More information is available at About the Interactive Guide to Building Advocacy Groups. Send feedback about the Interactive Guide. SEPTEMBER 2004: This is a preliminary installation of the Interactive Guide to Advocacy Groups. We need your feedback. Make comments on specific pages (you may see error messages, but comments should still post), or send email. Is something missing? Can we make it easier to navigate? This Guide will change regularly over the next few months as we incorporate changes and fine tune the site. Thank you!	« Research Model 1: Recessive Disorder » Research Model 3: Dominant Disorder