For rare disease advocates, getting access to the latest medical research can be daunting. The high price tag makes paying for access to journals prohibitive for most advocates. Short of living next door to a medical library or imposing on others who might have access to journals, many advocates, patients, and their parents have a hard time keeping up.
There’s another problem, though. People who are successful at getting hold of an article must then make sense of it. That can be a much tougher task.
Scientific papers have a language unto themselves and most patient-advocates are not fluent. The vocabulary is just one of the challenges. Papers rich in science are often a tad light on art.
Kathryn Atchley, president of the patient organization KIF1A.Org knows that problem first-hand. Though her organization did a good job of collecting available research and making it available to parents of children with the genetic condition, she often heard a common refrain.
“Parents were saying I don’t understand this. I don’t know what it means,” she said. “I was in the same boat.”
KIF1A associated neurological disorder is not well understood. Mutations to the gene cause a progressive, degenerative neurological condition. There are about 200 known cases in the world today and the research being done is laying the foundation to progress toward treatments.
Atchley had a simple idea to address the problem. “Instead of trying to decipher KIF1A research papers on our own, or constantly pestering our core researchers to translate other scientists’ work for us, we wondered, why not just ask the scientists to translate their work for us?” she said.
The organization reached out to Dominique Lessard of the Department of Molecular Physiology & Biophysics at the University of Vermont to see if she could help by putting into plain language a recent paper on KIF1A on which she was the lead author. The result is the first Research Simplified paper.
Even though the paper featured the catchy title “Regulation of KIF1A motility via polyglutamylation of tubulin C-terminal tails,” for the lay reader it may have been a bit dense to crack. Instead, Lessard broke down the study in clear language and explained the significance of the findings.
By likening the KIF1A protein to a sports car carrying essential cargo for cells in the brain, Lessard was able to explain her research in an accessible manner to the KIF1A.Org members.
“It’s been an incredible collaboration and we’re looking forward to issuing additional ‘Research Simplified’ summaries,” said Atchley. “We’re also planning to do video interviews with the authors to address follow-up questions gathered from our families.”
The beauty of what Lessard and KIF1A.Org have done is that it can serve as a model for other researchers and rare disease organizations who would like to do the same. Atchley hopes other organizations will look to what KIF1A.Org has done and try to replicate it for their own communities.
She thinks it’s important to keep KIF1A families up to speed on the latest research because she believes the research is progressing and one day soon she hopes clinical trials might begin on potential therapies. When that day comes, she wants KIF1A families to feel well-informed and empowered to make decisions about participating in such research.
“There is this myth that researchers and families are living in two different worlds. They want to connect,” Atchley said. “This has been one easy, fun way for us to bridge families and researchers communicating with one another.”
October 16, 2018