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Apr212023
When Chris and Jenny Carlson’s son couldn’t see the NEO-WYSE comet, it began a journey for the family that resulted in the creation of the Dawn’s Light Foundation, which supports research into Inherited Retinal Diseases (IRDs).
Through genetic testing, their son Lucas was diagnosed with retinitis pigmentosa. Often diagnosed in childhood or adolescence, retinitis pigmentosa (RP) is an inherited retinal disease, causing progressive loss of night and peripheral vision. The condition often leads to legal blindness and sometimes complete blindness.
Jenny and Chris, who recently retired from the Fred Hutchinson Cancer Center after a career as a genetic epidemiologist, set about creating a foundation to support research into IRDs.
“Ironically, I spent my career studying the genetics of human disease at the Hutch, and then suddenly we found ourselves in genetic counseling as an affected family,” Chris Carlson said. “But we are inspired to use our resources to push things forward. Creating new therapies to treat these diseases will take time and investment.”
In September 2022, sponsored by a generous gift from the Dawn’s Light Foundation, the UW Department of Ophthalmology held a Vision Insights conference at UW Medicine South Lake Union, discussing the diagnosis and management of IRDs.
UW Department of Ophthalmology faculty Associate Professor and Vice Chair for Research Jennifer Chao, MD, PhD and Assistant Professor Debarshi Mustafi, MD, PhD led a featured panel of clinicians, researchers, and patient speakers to discuss current practices and the future of IRD treatment.
The Chao laboratory is working to create models of retinal degenerative diseases that can be used to discover potentially therapeutic drugs. The laboratory takes blood samples from volunteers affected by retinal degenerative diseases to create patient-specific stem cells and grow them into retinal cells to study.
“Ultimately, our group is focused on discovering new drug therapeutics that could benefit those affected by inherited retinal degeneration,” Dr. Chao said.
The Mustafi laboratory is applying sequencing technology to more accurately reveal pathogenic variants that lead to IRDs, especially in the pediatric population.
“Using isolated blood samples from affected IRD patients and their families, our lab can carry out genome sequencing to identify novel pathogenic variants of disease and reconstruct disease haplotypes, which has implications for interpreting disease risks in IRDs for patients and their families,” Dr. Mustafi said.
At the Vision Insights conference, Dr. Mustafi discussed pediatric diseases and new emerging genetic sequencing technologies that have the potential to provide a faster and more accurate diagnosis. They were joined by Research Associate Professor Ram Sabesan, PhD, who studies high-resolution functional imaging of the retina in IRD patients, and Timothy Cherry, PhD, Assistant Professor of Pediatrics and Principal Investigator at the Seattle Children’s Research Institute, who highlighted how his lab is using model systems called retinal organoids to study IRDs. The event also included a patient and family panel.
“It was a very successful event in that it rallied the community of patients, researchers, and clinicians around the study of IRDs,” Carlson said. “We hope that it can happen again in the future.”
Patient family members spoke at the conference on inherited retinal diseases, led by Dr. Debarshi Mustafi.
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