Kelly Trout is a registered nurse by profession. She is also a leader of a small nonprofit organisation called the International WAGR Syndrome Association, and the parent of an adult with WAGR/11p Deletion syndrome. This is an extremely rare disorder — fewer than 500 cases have been identified worldwide. The primary features are Wilms tumor (a type of kidney cancer), Aniridia (absence of the iris), Genitourinary tract abnormalities, and intellectual disability.
We’ll hand over to Kelly to explain what she did:
Catherine Luis (another parent) and I were frustrated by the lack of information available about this disorder – never mind research. In 2002, we conducted a mail-in survey completed by families in the IWSA. This survey identified a host of additional symptoms and features.
Catherine and I used PubMed, the US National Library of Medicine, to learn what was known about WAGR/11p Deletion syndrome, and whether the conditions found in our survey had ever been reported. Although most medical journal articles have abstracts available on PubMed, the majority of full text papers cost $25-30 (US) each. Small nonprofits and parents of children with special needs are both notoriously cash-strapped. Happily, PubMed includes a filter which allows users to find articles for which full text is freely available: since we couldn’t afford to pay access charges, our initial research involved only those free articles.
Using these, we were able to demonstrate that these features were significant, not previously identified, and that additional research on this syndrome held at least some potential.
We used this demonstration to convince a nephrology Fellow to help us publish the data, and he used it to convince his department to fund a more rigorous survey. In 2005, these efforts resulted in a paper – co-authored by myself and Catherine Luis – “WAGR Syndrome: A Clinical Review of 54 Cases” published as open access in the journal Pediatrics.
This article was read by Joan Han, MD of the National Institutes of Health, who then contacted Kelly’s organization to explore the possibility of a study of the disorder.
A comprehensive, genotype/phenotype study of WAGR syndrome began at the NIH in 2006, and is ongoing. The study has resulted in multiple papers, the most significant to date being “Brain Derived Neurotrophic Factor and Obesity in the WAGR Syndrome” published in the very prestigious New England Journal of Medicine.
This article prompted an editorial in the same journal, “The Power of the Extreme in Elucidating Obesity”. The editors of NEJM point out how important it is to study rare diseases and disorders, because in these we are likely to discover the keys to common maladies that have so far eluded medical science.
Kelly explains what made all this possible:
This is the reason why open access is so important to me, and why it must become important to everyone: because without it, that first article on WAGR/11p Deletion syndrome – which has now been cited by more than 60 other papers, which helped launch a full scale research study, which may end up having implications for untold numbers of people – would never have been published.
Whenever we hear academics saying that research papers are too complicated for “most people” to understand, we need to reject that thinking. If Kelly had accepted it — or if open access hadn’t made an important set of research papers available to her and Catherine — then none of this important research would have happened.
It’s not for academics, or publishers, to decide who needs access.