One of the great things about mobile apps is that they are low-profile, easy-to-adopt tools that theoretically could remove traditional barriers between information sources. In fact, as I discussed in my last entries, they have the potential to create a whole new ecosystem of information and users. Nowhere is this more evident, or more important, than in the area of rare and neglected disease research, where disparate (and often desperate) information seekers need better ways to access and share information. I’ve invited Pistoia Alliance board member Sean Ekins to talk about the Open Drug Discovery Teams (ODDT) app we developed together as a “skunk works project” for the Dragons’ Den session at the Pistoia Alliance F2F meeting in February 2012. The app has come a long way since that initial presentation—but more on that in Part 2.
Today we are seeing parents becoming bona fide world experts in rare diseases out of necessity, as they form foundations and companies to fund research to help their sick children. Take Jill Wood, who foundedJonahsjustbegun.org when her son was diagnosed with Sanfilippo Syndrome, or Lori Sames, who founded Hannahshopefund.org to promote study on her daughter’s disease, giant axonal neuropathy. There are many others. Organizations like these don’t have the scale of the NIH, the Bill and Melinda Gates Foundation, or the Michael J. Fox Foundation. But they are virtual pharmas—and they are highly motivated to find cures. What they lack is a way to rapidly access, gather, and share information on disease research that may be occurring anywhere globally. What if we could help these parents and the researchers working on rare diseases work more collaboratively, as Alex Mackenzie and co-authors recently suggested?
At the opposite end of the spectrum are diseases such a tuberculosis and malaria that affect millions rather than the one in a million suffering from a given rare diease. Despite their prevalence and the considerable amount of funding they can receive, these diseases are often classed as neglected because progress is slow, not well coordinated, and rarely utilizes informatics, computational tools, and other technologies to capitalize on knowledge accumulated globally.
In both of these cases, information exists. Research is occurring somewhere, but it’s occurring in a vacuum. The challenge is how to connect the right people to the right information at the right time so that they can share, partner, and collaborate. A few pioneering open notebooks scientists have explored ways to make science more open. Mat Todd at the University of Sydney, for instance, uses his blog as a window into his ongoing research, and many scientists have taken to tweeting discoveries to their contacts. But such efforts are still akin to shouting on a street corner. How can we boost the signal to connect those doing the shouting with those who most want to listen, wherever they are in the world?
In our next entry, we will describe the genesis of the ODDT app (developed jointly by Collaborations in Chemistry and Molecular Materials Informatics) and its impact on rare and neglected disease research.
In the interest of full disclosure, Sean donates time to Phoenix Nest, BioGan, Jonasjustbegun.org, and Hannahshopefund.org. These and many other rare disease groups could benefit from your support.