Part II of the Genetic Alliance Interactive Guide

Research Model 1: Recessive Disorder

Research is coordinated by the advocacy group at various sites. The advocacy group serves as the liaison between the research participants and the research consortium.

Mission: To initiate, conduct and fund pseudoxanthoma elasticum (PXE) research; to educate clinicians about PXE and to support individuals affected by PXE.

The Problem

Limited Funding
Incomplete Data
Manifestations, natural history, epidemiology, mode of inheritance
Difficult Sample Acquisition
Locating and collecting affected individuals
Explaining research is experiment, not diagnostic test
Describing research with hope, not hype
Obtaining informed voluntary participation
Patient Confidentiality

The Approach

Manage integrated database of affected individuals, pedigrees, 1000 DNA samples, tissue samples, epidemiological data from 700 affected individuals
Initiate and fund research projects - genetic/molecular/epidemiological/clinical
Describe studies to affected individuals in an comprehensive manner
Expend 80% of operating budget on direct and indirect costs of research
Sponsor research and patient meetings to encourage expedient definition of problems and to open new avenues for further research.
Present abstracts, posters and lectures at medical and research meetings
Write grants and apply for funding from foundations and NIH
Participate in alliances and coalitions for increasing public awareness Advocate for the NIH and medical institutions
Coordinate and facilitate collaborations between laboratories, offering them both a safe information repository and channel through which to share information
Integrated database
Support and maintain privately held PXE International Blood and Tissue Bank

Results

PXE Research Consortium - 19 labs in eight countries, FY 04 $ 550,000 in funding
NIH Sponsored International Research Meetings on Pseudoxanthoma Elasticum. Multidisciplinary approach - international collaborations among many disciplines
Focused agenda - accelerates research in the service of the patient population
Increased congressional awareness - real outcomes in research funding
Integrated information to synthesize relevant data
Co-authored back-to-back papers in Nature Genetics (June 2000)

» Research Model 2: Chromosomal 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!

AN INTERACTIVE GUIDE TO BUILDING ADVOCACY GROUPS
Part II
Part I Part II Assessment Structure Resources Support Education Research Advocacy Part III	Research Model 1: Recessive Disorder Research is coordinated by the advocacy group at various sites. The advocacy group serves as the liaison between the research participants and the research consortium. Mission: To initiate, conduct and fund pseudoxanthoma elasticum (PXE) research; to educate clinicians about PXE and to support individuals affected by PXE. The Problem Limited Funding Incomplete Data Manifestations, natural history, epidemiology, mode of inheritance Difficult Sample Acquisition Locating and collecting affected individuals Explaining research is experiment, not diagnostic test Describing research with hope, not hype Obtaining informed voluntary participation Patient Confidentiality The Approach Manage integrated database of affected individuals, pedigrees, 1000 DNA samples, tissue samples, epidemiological data from 700 affected individuals Initiate and fund research projects - genetic/molecular/epidemiological/clinical Describe studies to affected individuals in an comprehensive manner Expend 80% of operating budget on direct and indirect costs of research Sponsor research and patient meetings to encourage expedient definition of problems and to open new avenues for further research. Present abstracts, posters and lectures at medical and research meetings Write grants and apply for funding from foundations and NIH Participate in alliances and coalitions for increasing public awareness Advocate for the NIH and medical institutions Coordinate and facilitate collaborations between laboratories, offering them both a safe information repository and channel through which to share information Integrated database Support and maintain privately held PXE International Blood and Tissue Bank Results PXE Research Consortium - 19 labs in eight countries, FY 04 $ 550,000 in funding NIH Sponsored International Research Meetings on Pseudoxanthoma Elasticum. Multidisciplinary approach - international collaborations among many disciplines Focused agenda - accelerates research in the service of the patient population Increased congressional awareness - real outcomes in research funding Integrated information to synthesize relevant data Co-authored back-to-back papers in Nature Genetics (June 2000) » Research Model 2: Chromosomal 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!	« Facilitating Quality Research » Research Model 2: Chromosomal Disorder