The successful model of microfinance was applied to the problem of: How do we improve a situation where there are 7000 known rare diseases and many more undescribed diseases? The Rare Disease Foundation microgrant program provides a small amount of funding ($3500) that must accomplish a specific research goal and directly improve patient care.
Our applicants, who are usually on the front lines of rare disease care, choose problems that reflect their patients’ priorities. They choose research problems that are solvable for today’s patients and often address problems that are common to a number of different diseases. The small amount we provide fosters collaboration which leverages our funding and our low red tape approach enables productive collaborations to be formed with the best researchers anywhere in the world.
One of major problems we see with disease research today is the siloization of research activity. Each group of scientists has a very deep understanding of their area but surprisingly there is no easy way to move a project from one silo of expertise to another. A few disease specific organizations now take on the role of research champion, one who moves an investigation from one expert to the next in rapid fashion, but the bulk of rare diseases lack their champion. Rare Disease Foundation research programs are designed to find and fund research champions.
Providing therapy for a disease requires a set of activities that start with the patient (define the disease, its subtypes, its complications, the way it evolves), goes through a group of laboratory studies (find the cause, understand it, model it), then into drug development and ends up back at the patient with a trial of therapy. Since no therapy is ever perfect, this is a circle that repeats to promote better therapies over time. We call this cycle “Translational Care”. The cycle involves translating clinical findings to the laboratory and vice versa with the objective of better care.
This cycle does not turn very well on its own so we identify research champions to crank the wheel of discovery, build bridges between silos of scientific expertise and deliver safe therapies back to patients as rapidly and efficiently as possible. The process can be sped up further if the pathway identified in step 4 already has approved therapies (or their side effects) that target it. In this case, a trial of therapy can be considered without traversing the entire circle.
The cycle takes an average of 44 years from first idea to drug trials in our system but our champions have turned the cycle in 4 to 9 years for 5 diseases and if the wave 4 shortcut is in play, treatment has been delivered 18 months to 3 years after the first patient visit for 9 diseases. We believe the Translational Care cycle is the best model for developing therapies for rare diseases and more quickly improving rare disease care for today’s patients.