Foundation Fellowship Awarded to Clinical Investigator

April 02, 2015

Rachel Huckfeldt, M.D., Ph.D., an up-and-coming clinical scientist, is receiving a one-year, $65,000 fellowship from the Foundation Fighting Blindness to gain the knowledge and experience to join the retinal clinical practice and launch a research program at the Massachusetts Eye and Ear Infirmary (MEEI). Her ultimate goal is to provide treatments and cures for people affected by retinal degenerative diseases.

“Historically, people with inherited retinal conditions have been told that nothing can be done for them,” says Dr. Huckfeldt. “But it’s an exciting time to be entering the field. The outlook is much different with so many emerging treatments moving into clinical trials. There’s real promise for saving and restoring vision in the not-too-distant future.”

The fellowship will enable Dr. Huckfeldt to make use of state-of-the-art, retinal-imaging systems to improve the understanding of how degenerative diseases affect the retina, and to determine if potential treatments are working in clinical trials. One powerful technology she’ll study is adaptive optics, which capture images of individual cones, the cells in the retina that provide central and color vision and the ability to read and recognize faces. Her focus will be on patients with mutations in the genes RHO and USH2A, both of which are leading causes of retinitis pigmentosa.

“Young clinical scientists like Dr. Huckfeldt who are developing in-depth knowledge of retinal diseases and using the latest tools to study them will be essential to leading human studies,” says Stephen Rose, Ph.D., the Foundation’s chief research officer. “We are very pleased to be investing in the advancement of her career. She will undoubtedly be an invaluable resource to the research community and getting vision-saving therapies out to the people who need them.”

During her Foundation-funded fellowship, Dr. Huckfeldt will be mentored by Dr. Eric Pierce, director of the Ocular Genetics Institute at MEEI, who served as chairman of the Foundation’s Scientific Advisory Board from 2005-2014. In a previous fellowship, she worked with Dr. Ed Stone, whose University of Iowa retinal-disease research center is world-renowned for genetic discovery and gene and stem-cell therapy development. She’s also worked under Dr. Jean Bennett, the director of the University of Pennsylvania’s Center for Advanced Retinal and Ocular Therapeutics. Dr. Bennett is also co-founder of Spark Therapeutics and principal investigator for gene therapy clinical trials for Leber congenital amaurosis and choroideremia at The Children’s Hospital of Philadelphia.

Dr. Huckfeldt first became interested in retinal research as a graduate student when she studied the retina as a model for neural development. “I quickly became captivated by the retina’s structural and functional complexity,” she recalls.

However, the need and opportunity to help patients became apparent when she was medical student. “I distinctly remember a young woman with Stargardt disease and her overwhelming frustration that there were no treatments that could restore her vision,” says Dr. Huckfeldt.  “Ophthalmology, and retinal diseases in particular, seemed like a natural intersection of my scientific interests and my hope to make meaningful contributions to patients.”