“The first time I examined a person’s retina as a junior resident, something clicked. All the things I found interesting came together — surgery, patient care, genetics, regenerative medicine, and cell biology,” says Mandeep Singh, MD, PhD, assistant professor in ophthalmology, Wilmer Eye Institute, Johns Hopkins Medicine. “I knew retina was what I wanted to focus on for my career.”
Dr. Singh is one of four new recipients of career development awards (CDAs) from the Foundation Fighting Blindness. Each recipient will receive a total of $375,000 over five years to help build an independent research program in addition to their clinical practices. FFB currently funds 12 CDAs for up-and-coming clinicians to advance their experience and expertise in research for retinal degenerative diseases. Since its inception, FFB has given CDAs to more than 100 clinical investigators.
“For me, retinal degenerative disease is the most exciting field in all of medicine, because it is a hotbed of innovation in stem cells, gene therapy, and a host of other new treatment concepts,” says Dr. Singh. “FFB has been a huge force in driving this innovation.”
Dr. Singh’s CDA is for investigating transplantation of cones derived from embryonic stem cells for vision restoration. Cones are the photoreceptors that provide central and color vision, and the ability to read, drive, and recognize faces. Dr. Singh will be using mouse models to address cone photoreceptor transplantation challenges such as functional integration with the host retina and survival of newly introduced cells.
“I see patients every week who would greatly benefit from photoreceptor transplantation. If we successfully develop the technology to regenerate damaged photoreceptors, we will be able to protect or restore vision in so many people,” says Dr. Singh. “There are numerous challenges, but with the support of FFB and my expert collaborators, I believe we will make progress.”
Other new CDA recipients include:
Shyamanga Borooah, MBBS, PhD, Shiley Eye Center, University of California, is testing CRISPR/Cas9 gene-editing (gene-correction) in human cells and animal models of autosomal dominant diseases affecting retinal pigment epithelial (RPE) cells. The conditions include: Late-onset retinal dystrophy, Sorsby fundus dystrophy, and Malattia Leventinese/Doyne honeycomb retinal dystrophy.
Rachel Huckfeldt, MD, PhD, Massachusetts Eye & Ear, Harvard, is investigating cystoid macular edema (CME), a common, vision-robbing complication of retinitis pigmentosa and other inherited retinal diseases. Dr. Huckfeldt will be working to better understand what causes the potentially harmful collection of fluid associated with CME, as well as better ways to treat it.
Nieraj Jain, MD, Emory Eye Center, is investigating a retinal dystrophy associated with chronic use of the interstitial cystitis drug pentosan polysulfate sodium (PPS). The retinal abnormalities in patients who use the drug are similar to those of people with age-related macular degeneration (AMD) and other retinal conditions known as pattern dystrophies. Using PPS, Dr. Jain plans to develop a mouse model that can be used to better understand, and test treatments for, AMD and pattern dystrophies.