Participants in the GC BRIDGED 2025 Conference for ophthalmic genetic counselors gathered on the steps of the UPMC Mercy Pavilion, home of the UPMC Vision Institute, in October.
Photo credit: Will Smith
Sisters Tammy Krents and Kimberley Bell both inherited a genetic disorder that causes progressive blindness. Their story made headlines in July 2024 as they became Pittsburgh’s first recipients of a gene therapy called Luxturna, a treatment designed to slow the rate of vision loss and retinal degeneration due to the condition.
It's not by chance that the sisters were able to receive this life-changing treatment at the UPMC Vision Institute. They were found to be eligible after going through testing by the ocular genetics team including Michelle Alabek and Morgan Brzozowski, who help connect patients with treatments that can be the right fit for inherited conditions. They, along with Hannah Scanga and Kelly Tripi, are genetic counselors at UPMC Vision Institute and adjunct faculty members in Pitt Public Health’s Master of Science in Genetic Counseling program.
Hand-in-hand with pediatric and adult ophthalmologists, the genetic counselors work to diagnose and manage genetic conditions affecting vision and all parts of the eye. The team focuses on clinical and research endeavors and is the largest group in the United States solely focused on ocular genetic disorders.
That’s something to celebrate on Genetic Counselor Appreciation Day, on Nov. 13.
In the case of the sisters who received Luxturna, the treatment is available only for a type of retinal dystrophy caused by two mutations in the RPE65 gene. Genetic testing was the first step to determining this treatment path. Initially, the sisters’ results were inconclusive and their ability to receive Luxturna was in jeopardy; however, monthslong efforts by the ocular genetic counseling team generated more evidence that the genetic findings were the cause for the condition, clearing the way to treatment.
Clinical trials and approved therapies for vision conditions are on the rise, and many require genetic testing to understand the cause of a patient’s condition and identify treatment possibilities. Pitt has several projects in the pipeline for patients with retinal disorders, optic nerve disorders, and a pediatric condition called neuronal ceroid lipofuscinosis (Batten Disease). Experts at Pitt, UPMC Children’s Hospital of Pittsburgh, and the UPMC Vision Institute offer the evaluations, genetic counseling and genetic testing needed to help identify these opportunities for patients with vision conditions.
The University’s strength in ocular genetics was showcased in October at the GC BRIDGED (Genetic Counselors Broadening Research, Insights, and Discussion of Genetic Eye Disease) Conference, a first-of-its kind conference specifically for genetic counselors working in ophthalmology. Its goal was to create bridges between the knowledge and skills that genetic counselors and ophthalmologists bring to patients, promote networking, and develop a sense of community among providers in this rare subspecialty. The two-day event included genetic counselors, physicians, patients and advocates, and 12 Pitt students. It was partially funded through an educational grant from Johnson & Johnson and sponsored by Mirum, Sanofi, Prevention Genetics, Genetech, and the World Society of Pediatric Ophthalmology and Strabismus.
Pitt-affiliated speakers included José-Alain Sahel, Ken K. Nischal, Will Smith, Richard Hagan, Leah Byrne, and Galen Holland, all of Pitt School of Medicine; and Lucy Galea, Erin Tapper, Kelly Tripi, Morgan Brzozowski, Michelle Alabek, and Hannah Scanga, all of Pitt School of Public Health.