All research needs to be open. But especially for making progress on rare diseases, research needs to be open. In most cases, there are so few stakeholders (patients, physicians, families, and scientists) that any barrier to open science will be especially damaging. Here are two broad ways that we need to be more open in rare disease science:
Findings and publications don’t belong to (well-funded) scientists and journals.
For science, the paywall and delay to publishing can mean that it is months or years before other groups learn about important findings. This results in duplication of effort (different from replication) and even going down the wrong road. A nice solution to this is posting all work on BioRxiv, an open access preprint server. Because of the broken publishing system and broken incentive system in academia, it’s not always possible to publish in an open access journal, but if the work is posted on a preprint server, then it is still accessible.
For patients, open access means they can read the science for themselves. It no longer needs to go through the paternalistic filter that most scientists use when speaking with patients. Access to the most recent research allows patients to make connections to real life experiences that may inform the science and the development of therapies. Don’t forget that patients are tax payers and they have the right to tax funded research.
For physicians, especially those treating patients with rare diseases, staying on top of the science could be critical for treating the patient. Again, physicians may be able to make connections that scientists just aren’t aware of.
All stakeholders need to be open to communication and collaboration.
In almost any scientific advance, collaboration and openness speeds discovery. This is especially important for rare diseases. Collaborations across nontraditional aisles will need to occur. Scientists should move away from tribalism and protecting unpublished data, but be open to all who are seeking the information. Meetings, especially disease focused ones, should make every effort to include physicians and patients. Sharing data among scientists is great, but the information is only useful if it’s shared with the people actually impacted by the disease.
One particularly exciting collaboration that is now occurring is between Retrophin, NCATS, and NGLY1.org to find small molecule therapeutics for NGLY1 deficiency. A collaboration between a company, an NIH institute, and a patient advocacy group to bring together the strengths of all three, to speed discovery. This is the model for rare disease. In small communities, all parties need to be working together. It’s not a race to find a cure first, it’s a race to find a cure. Period.
So, moving forward, what will the Chow Lab do to try to improve this for the rare disease community?
1) We will always post our work on BioRxiv and whenever possible, publish in open access journals. We haven’t always done this, but to improve access, we will also post PDFs of all our papers.
2) We will share unpublished data. If you ask, we will share findings (with whatever caveats).
3) We will participate in more patient centered meetings and interact with more physicians and patients.
4) We will be open to collaborations from any angle.
Open science is important to all of science, but especially to advances that need to happen for rare diseases.