It was a eureka moment eighteen years in the making. Two years ago, a wealthy man made me a proposal I could not refuse. A family member with an inherited neurological condition was my patient. She suffered from a disease that I had been researching for a number of years. He wanted to help move the research forward and asked me to give him a far-reaching, long-term research plan and he would fund it. I came up with a seven year plan to create a "center without walls" with the aim of bringing together researchers with complementary expertise to work collaboratively on this project. He agreed to the plan and committed several million dollars to the project. It was an unusual proposal. Most scientists would have opted for a project that would keep all of the money at their institution. That was never a consideration for me as I thought that the quickest and most efficient way to move the science forward was to tap into already existing expertise elsewhere rather that try to recreate it locally.
Scientific research is a cutthroat business full of back-stabbing, petty jealousies and over-inflated egos. It is these attributes that often get in the way of scientific advancement and make successful collaborative research a rarity. The medical sciences are no exception. Therefore I had to choose my partners carefully. In addition to being good scientists, they must be willing to leave their egos at the door. I partnered with a Dutch scientist whom I had known for some time. He not only had the scientific talent, but he also had the temperament that I was looking for in a collaborator. A year into the project, we extended the collaboration to include a scientist in Seattle.
Last week, we gathered to go over the data generated in the first two years of the project. I knew this would be a good meeting. When careful scientists not usually given to hyperbole and exaggeration tell you that they are "very, very, excited...", you cannot help but get giddy. When all the data was presented, the members of the scientific advisory board overseeing the project were stunned. Several independent lines of evidence all pointed to one mechanism for this disease. For eighteen years since the initial discovery of the genetic defect, there were several competing theories about what was happening at the cellular level to cause this disease. With the data presented last week, all but one remains, and that last one is now backed by solid evidence.
Of course it is not the end of the road. It will be years before we have an effective treatment, but we finally have a target to go after and the technology to eventually reverse the effects of this sometimes devastating neurologic condition. For me, as a clinician, I can now for the first time offer my patients hope and truthfully tell them that we understand their disease and that we are working on a treatment.
My next eureka moment will come when I can look my patients in the eye and tell them that we finally have a treatment.