Six teams of researchers each received $80,000 today for reaching the final stage of a competition to design tools to help scientists and citizens worldwide harness and process the increasingly vast quantities of biomedical data.
“These innovations illustrate how new knowledge can be derived from existing data sources to advance our understanding of issues such as clinical trials, environmental exposures, and neuroscience," said Philip Bourne, associate director for data science at the National Institutes of Health (NIH) in Bethesda, Maryland, which launched the Open Science Prize last fall in collaboration with the Wellcome Trust research charity in London.
The six finalists—chosen from 96 entries from multinational teams—will have until 1 December to develop and refine prototypes of their projects. The public will then be invited to vote on them, and the winner will be announced early next year. The winner will receive $230,000.
Making connections is at the heart of MyGene2, one of the six finalists. The idea was born out of the frustration that Mike Bamshad and Jessica Chong, genetics researchers at the University of Washington, Seattle, encountered among parents of children with rare genetic conditions and researchers studying those conditions. Because some genetic mutations can be found in only a handful of people in the world, and because medical privacy laws often prevent sharing identifying information, researchers looking to study rare genetic conditions can have difficulty forging alliances—and parents can be left without a diagnosis or support network.
To ease the process of making connections, MyGene2's website can "translate" parents' descriptions of a condition's symptoms into standard medical terminology, making it easier for parents and researchers to connect it to others on the site. "This is an attempt to democratize the process for families," Bamshad said, describing MyGene2 as a spiritual successor to a previous NIH campaign that funded smaller genome research centers.
Families are able to put as much or as little identifying information as they want on the site, which was developed together with Australia's Garvan Institute of Medical Research in Darlinghurst. They also can choose whether to allow themselves to be contacted by researchers. More than 100 families have uploaded profiles since the site's launch less than 2 months ago, and Chong anticipates many more families signing up as they become aware of it. "Some of the families have said repeatedly that there's no one in the world who's more devoted to finding an answer for their kid or themselves than themselves," Chong said.
With their $80,000 award, Bamshad, Chong, and their partners plan to add tools to MyGene2 for families who want to personally analyze their children's genomes, and to join the Matchmaker Exchange, a collaboration of universities and foundations to match the genomes of people with rare diseases.
Today’s other finalists include:
- OpenAQ, a project to build a hub for real-time air quality from around the world;
- OpenTrialsFDA, an effort to make the Food and Drug Administration's drug approval evaluation packages more easily accessible to the public;
- a project to help doctors and researchers track outbreaks of Zika, Ebola, and other pandemics in real time;
- Open Neuroimaging Laboratory, a project to allow scientists to share and annotate brain imaging data from around the world; and
- Fruit Fly Brain Observatory, a project aiming to help researchers model neurological diseases better by linking data from experiments on fruit fly brains from around the world.
"These guys are examples of how research can be changed through the use of open data," said NIH’s Elizabeth Kittrie, who is advising on the competition.