Research Model 1: Recessive Disorder

Encouraging research on a particular condition is not impossible—given the right ingredients. However, unlike a deli counter, you can't take a number and wait until the researchers get to you—you've got to do the work!

Getting Research Started on PXE

Patrick Terry

PXE International

"We collaborated with extramural researchers—researchers who receive money from NIH to conduct research—and at that level were able to influence what research was done on PXE. We didn't just call up a lab and say, "Shove everything else to the side and do PXE!" We started by reading the literature—particularly by searching the NIH's PubMed and CRISP, a database of biomedical research funding.

Then we contacted scientists doing any research even remotely related to PXE. All of them were very receptive toward meeting with us. We went and spoke to them and said, "How can we help?" In some instances we asked if we could fund a post-doctoral fellow in their lab for a small amount of money or if they could add a project on if we supported it in any other way.

Our collaborations grew until they now include more than 19 labs around the world and several companies—including a major collaboration with Transgenomic. One of the labs got an NIH grant for PXE research, and our small seed money paid off big time!

We have also always felt that helping other organizations and conditions achieve their goals would be beneficial for the system, thus our heavy involvement in Genetic Alliance, the Coalition of Heritable Disorders of Connective Tissue, and the Coalition of Skin Diseases. In the end we will all benefit; staking out our territory and earmarking would not have given us all we have now. And it isn't that we are satisfied. No, we are always hungry for more—our kids are still suffering the effects of the condition—so we have to fight hard—but we chose to fight alongside all of you, moving the front line together."

Sometimes it isn't money at all that is needed. Sometimes, just access to affected individuals, their data and their samples is all that it takes to get research going. Advocacy organizations can build resources that are very powerful, very useful, and provide the highest protections for affected individuals and their families.

Recruiting Participants

Some organizations may want to recruit their members who would be good candidates for research participation for a particular study. Here's how some groups handle their policies and procedures around participant recruitment for research:

• We were approached by a researcher at the NIH, I had met him at the alliance conference in 2009 and it took him a couple of years to get his protocol and funding together…. I recommended specific families from our listserv based on my knowledge of the syndrome and the way they’d been originally diagnosed, but contacted them before the NIH did.
• The CAH group in the UK, of which I am a member and one time committee member, have approached this in a few different ways. We might have flyers up in the endocrine departments of hospitals notifying people of impending research projects. We might be informed through the forum as members that there is someone interested in doing research on a particular aspect, with an email address for members to contact if they should so desire. Or the committee might post out details of studies etc to each member currently on the database, usually containing a questionnaire which they can choose to fill out and return – or not. This would be sent directly to the researcher by the participant if they chose to take part. The researcher does not have access to the database details though – it is up to the member if they wish to respond or not. The committee would have had some contact with the researcher prior to ensure that they are bona fide, and that they comply with all ethics requirements. Once the participant chooses to take part, it is then a matter between them and the researcher, and the CAH group do not have an involvement until we hear of any outcome of the research.

Internal Links

• Barriers to Rare Disease Research
• Benefits of Collaboration with Advocacy Organization Community
• Blood and Tissue Banks
  • Genetic Alliance BioBank
• 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
• Registries
• Research Models
  • Research Model 1: Recessive Disorder
  • Research Model 2: Chromosomal Disorder
  • Research Model 3: Dominant Disorder