Question: How many researchers does it take to develop a retinal-disease treatment? (No, this isn’t a politically incorrect joke.) The answer is near the end of this article, but no looking ahead!
Clearly, no scientist can develop a sight-saving treatment alone. While an individual investigator tucked away in his or her lab might come up with a breakthrough concept for saving vision, that person needs lots of help from a diverse group of scientific collaborators to move a therapy into human studies and out to the people who need it. In many cases, the researcher with the great idea will need dozens of collaborators to assist with the following essential activities:
- Develop a delivery system for the treatment (e.g., eye drops or a pill)
- Develop and/or identify animal models of relevant retinal disease(s)
- Conduct imaging, vision, and tissue studies in animal models
- Find and characterize patients with relevant retinal disease(s)
- Produce the therapy so that it’s safe for human studies
- Develop a plan to obtain FDA authorization to launch a clinical trial
- Conduct the clinical trial (including imaging and vision studies)
This is why fostering collaboration among researchers has been a major strategy for the Foundation since its inception in 1971. In the coming year, the Foundation will invest more than $5 million in 14 collaborative research projects, which we call Center Grants.
Center Grants typically last five years. Three were renewed in July: the Berman-Gund Laboratory at Harvard Medical School; the Children’s Hospital of Philadelphia-University of Pennsylvania (CHOP-PENN) Center for Pediatric Retinal Degenerations; and the University of Pennsylvania Large Animal Model Translation and Research Center.
For an example of the collaborative nature of these groups, consider the CHOP-PENN Center led by gene therapy pioneer Jean Bennett, M.D., Ph.D. Her ultimate goal is to develop new gene therapies for Stargardt disease and two forms of Leber congenital amaurosis: LCA5 (lebercillin mutations) and LCA10 (CEP290 mutations).
In support of that goal, her team of more than 30 investigators and technicians is conducting a wide variety of synergistic research efforts, including: natural history studies of people with retinal degenerations; development of human models of retinal disease, using induced pluripotent stem cells; and imaging studies for tracking disease progression and treatment effects. In addition, she is eliciting the help of 17 researchers outside of her institution, virtually all of whom are also funded by the Foundation.
So, if you do the math, Jean is getting help from nearly 50 scientific personnel to advance three new gene therapies into clinical trials.
I am sure if you asked Jean how many people helped in developing her first gene therapy — the landmark gene therapy for Leber congenital amaurosis (RPE65 mutations) — she would say hundreds. Just don’t ask her to name them all.
Visit the Foundation’s online annual report to learn about all of our Center Grants and individual investigator awards.
Visit our recent blog post from VISIONS 2013 to learn the latest on six gene therapy clinical trials currently underway.
Top left, Researchers from the lab of Eric Pierce, M.D., Ph.D., at Massachusetts Eye and Ear Infirmary, Harvard Medical School.
Bottom Right, Researchers from the lab of Gus Aguirre, V.M.D.,Ph.D., and William Beltran, V.M.D., Ph.D., at the University of Pennsylvania.