Scientists in Iowa recently reported a breakthrough discovery. They successfully identified the gene (PRICKLE1) which when mutated causes epilepsy. There’s two things amazing about this discovery
- PRICKLE1 is unique in that it has never been associated with any other disease.
- The project involved two dozen institutions across 6 countries and collaboration played an important role.
Dr Bassuk (the lead author) found that whether on-campus or international, collaboration was essential to the success of the research study.
“By sharing and analyzing data sets, we realized there was a common mutation in the PRICKLE1 gene in the family members with this form of epilepsy,” Bassuk said.
To verify that the mutation might be related to the epilepsy, the team needed to test it in an animal model. This next step to find a suitable animal model involved a surprising coincidence: Bassuk, who had only recently joined the UI, realized through online research that the PRICKLE1 gene in zebrafish had been previously identified by another University of Iowa researcher, Diane Slusarki, Ph.D., associate professor of biology in the UI College of Liberal Arts and Sciences.
“I walked across the river to Diane’s side of campus, and we designed an experiment to test the human mutation in the zebrafish,” Bassuk said. It was ‘Iowa luck.'”…
“We never could have done, or could continue to do this type of research, with just one person thinking about it,” he said. “From the clinicians who found and took histories on the study participants, to antibody testing at Stanford University to DNA shared from colleagues in Japan, the study required a lot of collaboration and coordination…”
Read full story here.
What is it that makes it easy for scientists to collaborate?
- Passion or an area of expertise they are identified with
- Dealing with the unknown – so you know you don’t have all the answers
- Knowing who would be interested/can be contacted
- Ability to connect easily – they all have profile pages these days and publish their work
Are there other factors?