August 19, 2021
A generous three-year commitment from The Carls Foundation to the Pediatric Retinal Research Laboratory (PRRL) of Oakland University’s Eye Research Institute will provide DNA-sequencing services to children and families impacted by three very rare, potentially-blinding genetic retinal conditions: Norrie Disease, FEVR (Familial Exudative Vitreo-Retinopathy) and Retinoschisis.
Support from The Carls Foundation will provide more efficient lab equipment, testing kits, materials, and tech hours needed to grow the DNA-sequencing program and double the number of patient families served over the next three years.
Families in the United States with rare, or orphan, genetic diseases often have no services working to research or diagnose their cause. Providing DNA-sequencing identifies a molecular reason for a child’s disease which provides valuable information for the entire family and allows physicians and scientists to make informed decisions about treatment and future research.
OU’s Eye Research Institute, in partnership with Associated Retinal Consultants of Michigan and the Pediatric Retinal Research Foundation, began offering DNA-sequencing services in 2019 using a unique testing method that is not available anywhere else in the world at this time.
Associate Professor of Biomedical Sciences and Eye Research Institute faculty member Kenneth Mitton, Ph.D., manages the PRRL and heads up the DNA-sequencing program. With DNA-sequencing technologist Wendy Dailey and Kimberly Drenser, M.D., Ph.D., a custom DNA-sequencing panel was developed using Next-Generation Sequencing. This newer technology enables PRRL researchers to fully sequence eight genes in 50 patients in just 18 hours. Previous testing methods could sequence one or two genes per child over a period of many months.
Although DNA-sequencing services are not covered by health insurance in the United States, the PRRL stands firm that patient families will not be charged for its sequencing services, and no family in need of these services will be turned away. Approximately half of patient families currently benefitting from services live in Michigan. The remaining patients are largely from the United States but also from around the world.
Dr. Mitton, Dr. Drenser and Wendy Dailey are grateful to The Carls Foundation for investing in research that will make such a critical difference in the lives of families in our community and beyond.
“Support from The Carls Foundation will allow us to continue providing services and advance life-changing research in pediatric eye diseases well into the future,” Mitton said. “We are thankful to The Carls Foundation for their partnership in this important work.”
Support from the Foundation also creates opportunities for students studying biosciences and students in the Oakland University William Beaumont School of Medicine to gain hands-on research experience that will advance their education in human genetics. Currently, Dr. Mitton is mentoring one senior and six junior medical students in his lab and plans to bring new students on board each year.
“I am very grateful to The Carls Foundation for providing this training opportunity for our students,” Mitton said. “Not only are these students learning valuable research techniques, they get to be part of a groundbreaking research endeavor that will help people all over the world.”
The Carls Foundation, located in Bloomfield Hills, Mich., is committed to advancing programs and initiatives that help children. The Foundation is a longstanding partner of OU and has a rich history of supporting students in the OU community.
“Pediatric medical care is one program area of The Carls Foundation,” said Elizabeth Stieg, executive director of The Carls Foundation. “We found the work on rare pediatric eye diseases interesting and wanted to help by providing needed equipment and services to Oakland University’s Eye Research Institute to help children and families.”
Learn more about the Eye Research Institute’s mission to help prevent blindness and vision loss at oakland.edu/eri.