Blog: Open Access

Genetics Announcement Related to BWS and an Appeal for Open Access

Last night an announcement about a genetic discovery related to Beckwith-Wiedemann syndrome (BWS) showed up in our Twitter stream. BWS is an overgrowth syndrome that often has hemihyperplasia as a characteristic. Many kids with mild M-CM have a BWS diagnosis under consideration at some point, and the cancer screening sometimes recommended for M-CM is related to the screening recommended for BWS as well as a lesser but still significant risk in isolated hemihyperplasia, which may be mild BWS.

The announcement about the discovery states that the mutation for a very rare syndrome that results in reduced growth lies in the same gene as the mutation that results in BWS.

“Finding opposite functions in the same gene is a rare biological phenomenon” emphasized Vilain. “When the mutation appeared in the slim section we identified, the infant developed IMAGe syndrome. If the mutation fell anywhere else in the gene, the child was born with Beckwith-Wiedemann. That’s really quite remarkable.”

Unfortunately, the announcement has emphasized storytelling. The piece opens with a whimsical quote from Alice in Wonderland.

"The Caterpillar got down off the mushroom and crawled away in the grass, remarking as it went, 'One side will make you grow taller, and the other side will make you grow shorter.'"

It goes on to discuss the idea of the effects of opposite growth dysregulation in the same gene by stating about BWS:

"Because their cells grow so fast, children with the disorder typically die of cancer at a young age."

This is absolutely false, children with BWS have an elevated risk of developing some types of cancer, but most never develop cancer, and among those that do, few will die from it if they are undergoing screening.

The piece appears to have been written by a public relations department from the institution where the research took place, and has been designed to be appealing to the lay public. But what we get is storytelling over scientific fact, and this example of a dramatic misrepresentation of the facts puts the accuracy of the whole piece in question.

The scientific article, whose publication prompted this piece, is not available to the reader. It's not even linked to in the article. When it appears on Nature Genetics' website and in PubMed, it is very likely to be behind a paywall. Many lay publications that receive this announcement will publish an article directly from what is stated here. Like patients, most journalists don't have subscription access to the source scientific publication.

The reasons for this lack of access to scientific material are not technical. We are deep in the internet age, the bottlenecks are related to culture and business. The open access movement is working to increase the availability of research papers, in part, by urging funders of research to require that publications resulting from their funding have a paywall-free home on the internet.

Activists are currently petitioning the White House to expand access to publications resulting from US government funding. This particular expansion would not affect the availability of the particular research described above, but each step towards expanded access will further marginalize the notion that it’s acceptable to have scientific publishing behind paywalls. Signing the White House petition is a small thing that you can do right now to say that storytelling is not enough for citizens and patients, we want access to the science.

Click here to sign the petition.

More information about this petition as it relates to patients:
Why Access2Research Matters for Patients
Free Up Research from PatientsLikeMe

Tags: genetics (6), research (7), open access (2)

Interview on Who Needs Access?

Who Needs Access? is a website that promotes free and open access to scientific research by telling the stories of those affected by paywalled research publications.  Cameron Neylon interviewed me for the site to get the perspective of the rare disease advocacy community.  As a result, I got to share quite a bit of information about M-CM, our organization and what we are working to accomplish.  You can read the interview here.

Tags: awareness (9), open access (2)