November 16, 2010
Emil Kakkis, Kakkis Everylife Foundation Blog
When I started out doing research and trying to get a simple treatment for a rare disease into the required clinical trials process, I did not realize how difficult it would be to get support, or that parents raising money for me would be the key ingredient.  After several years of work from 1991 to 1995, I had a treatment that I knew would work in people, but could not get any company or even significant grant support to translate this to people.   Through a random sequence of events, it worked out and I got funded.  Mark Dant with his affected son Ryan, had searched for scientists who had an answer to MPS 1.  At a National MPS Society conference in Disney World, he had the good luck of meeting Liz Neufeld, my mentor, and then that meeting led to me.  He saw the value and near term potential for the project and started raising money for our project and we managed to get going finally, heading to a clinical study. Ultimately the great work did attract a company that saw how close we were to clinical study and they funded us.  Now we have an approved treatment for MPS 1.
What a random struggle this was and how lucky we are that it did work out.  The family managed to find us, raise money and we made it work.  And yet there are thousands of untreated diseases affecting millions of families that are not connected to scientists somewhere trying to do something to get to a real treatment.  Does it take a random connection at a meeting to connect affected families to scientists?  How could we do this on a worldwide scale that compiles all the people and their energy into the right place?
The Global Genes Fund has a solution to this problem and provides an internet age answer to scale the process of having families with needs connect to scientists with possible solutions.  The Global Genes Fund headed by Nicole Boice, is putting together a web system like, which helps fund micro-loans for poor people trying to develop small businesses around the world.  Similarly, the Global Genes Fund would will allow parents, families, friends or good Samaritans to identify research projects of interest to them and donate to the effort.  Could be $10 dollars.  Could be $10 million.  The idea is that projects, after review and certification, would be posted on a Kiva-like website that would capture the research, its goals, the scientists and the families affected by the disease, and allow resources from around the world to converge on the problem.  No random connections at meetings, but rather a place people could search and find out who has an idea and needs support.   Foundations could post their projects there to attract additional investment, and the quality of oversight of the program will assure that funds are spent effectively.
The system is scalable and international in scope which is what we need to help connect millions of rare disease patients with scientists working on thousands of diseases.  The site is not a replacement for government supported research but could be a place for the kind of breakthrough creative work which sometimes cannot survive the peer-review process. It could also support work on ultra-rare disorders which often don’t excite peers and study sections during National Institute of Health reviews as being all that worthwhile.
The Global Genes Fund would be a real marketplace for scientists trying to connect with those families needing help.  Unlike other general donations, these donations would be for a very specific project which creates a stronger bond of the donor to the work.  From this, I would expect to see lots of great new ideas seeded and taking off for many rare diseases.  This would be a great win for rare diseases.
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