Research Model 1: Recessive Disorder
From WikiAdvocacy
- Patrick Terry
- PXE International
Research is coordinated by the advocacy organization at various sites. The advocacy organization 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.
Contents |
The Problem
- Limited funding
- Incomplete data
- Lack of information about manifestations, natural history, epidemiology, mode of inheritance
- Difficult sample acquisition
- Locating and collecting affected individuals
- Explaining that research is an experiment, not a 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, and epidemiological data from 700 affected individuals
- Initiate and fund research projects—genetic/molecular/epidemiological/clinical
- Describe studies to affected individuals in a 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 PXE with a 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)
Internal Links
- 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
- Registries
- Research Models
