Our Boston team is privileged to be working in collaboration with representatives of the Prion Alliance at the Broad Institute, on the development of a Prion ELISA. Why would we include this story in our blog? Well, it is because two aspects of this project are noteworthy; read on.
The first point of interest is that with this new project, Cambridge Biomedical is embarking on research in a neuro therapeutic area where many other CROs have feared to tread, and together with the Prion Alliance, is gaining knowledge and experience that will impact positively a devastating disorder where no effective treatment exists today.
Second, and even more remarkable, is that this work is being led by a patient, Sonia, together with her husband Eric Minikel.
Both Sonia and Eric left successful careers, in law and engineering respectively, in order to undertake science degrees culminating in PhDs at the Broad Institute where they now run their lab, here in the city of Boston. Sonia and Eric are amazing individuals with incredible drive that can only lead them to success. Together, they are enhancing our understanding of Prion Disease, and in time will define a pathway to effective treatment. Since our first meeting with Sonia and Eric they have never ceased to amaze us. They are compassionate, dedicated, skillful scientists, and together with their mentors, ask the best questions to overcome hurdles that others have tripped over as they wisely navigate their research along the development pipeline.
We had the opportunity to ask Sonia a few questions:
1. What was the biggest challenge in switching from your previous careers to becoming scientists and leading a drug discovery effort?
Everything! Every aspect of the process was incredibly challenging. It was so hard leaving fields where we had some expertise and status and starting out at the bottom rung, There was (and still is) so much to learn. In science, it never stops — there is so much to know, it feels like you never get to call yourself an expert.
2. What do you wish people understood about trying to find a treatment for Fatal Familial Insomnia?
Prevention is critical. This disease moves incredibly rapidly after it strikes, and many patients are profoundly debilitated and have little or no quality of life within just weeks of first symptom. While we certainly hope we can develop a drug to slow progression after onset, our best shot on goal is to try to prevent the neurodegenerative cascade from beginning in the first place. That means biomarkers are going to even more important than in most drug development efforts.
3. What tool or set of tools would make finding the treatment easier?
Because this is a rare disease, recruitment is going to be key. We are building an online registry at PrionRegistry.org and trying to recruit as many affected and at-risk people as possible to make sure we have the volunteers to be able to do the right kind of clinical trials.
Several articles have covered their journey. Be inspired and read these insightful articles today.
A rare disease killed her mother. Can this scientist save herself? (STAT)
One woman’s race to defuse the genetic time bomb in her genes (MIT Technology Review)
A Couple’s Quest To Stop A Rare Disease Before It Takes One Of Them (NPR)
A Prion Love Story (The New Yorker)
If you want to find out more about the Prion Alliance and see more links about Sonia’s race for a cure go to http://www.prionalliance.org/