07/24/2026
The Knights Templar Eye Foundation has awarded a Career Starter Grant to Bruna Lopes da Costa, PhD, a Postdoctoral Researcher in the Department of Ophthalmology and Scheie Eye Institute. Dr. Costa works with Peter M. J. Quinn, PhD, an Assistant Professor at the Kirby Center for Molecular Ophthalmology and director of the PrimeSight Laboratory. The PrimeSight Lab’s research focuses on disease modeling and the development of innovative therapies for inherited eye diseases.
The Knights Templar Eye Foundation has recognized Dr. Costa’s innovative research, titled “Elucidating underlying mechanisms caused by CRB1-splicing variants in early-onset autosomal recessive retinal disease.” CRB1-associated genetic conditions affect an estimated 80,000 individuals worldwide and frequently cause profound vision loss or blindness beginning in infancy or early childhood. Despite their devastating impact, there are currently no approved treatments in existence for individuals living with CRB1-associated retinal disease.
Dr. Costa’s research seeks to understand how disease-causing mutations in the CRB1 gene disrupt retinal development and lead to progressive vision loss. Many CRB1 mutations alter the normal splicing of the gene, yet the mechanisms by which these variants cause disease remain poorly understood. Traditional animal models have been unable to fully reproduce the human condition; progress in this respect has been limited because important differences exist between human and mouse CRB1 biology.
To overcome these limitations, Dr. Costa will develop and characterize innovative human "retina-in-a-dish" models using genetically engineered, isogenic human-induced pluripotent stem cells (hiPSCs). By generating photoreceptor precursor cells and three-dimensional retinal organoids carrying clinically relevant CRB1 splice-site variants, Dr. Costa’s research will investigate how these mutations affect CRB1 isoform expression, retinal cell development, and the molecular pathways that maintain retinal structure and function. The project will also use next-generation RNA sequencing to identify previously unknown disease mechanisms and uncover pathways that may be targeted therapeutically.
Through this work, Dr. Costa’s goal is to create clinically relevant human disease models that accelerate the discovery of effective treatments for CRB1-associated inherited retinal diseases. By improving our understanding of the molecular events driving retinal degeneration, Dr. Costa’s work aims to identify new therapeutic targets and establish a foundation for future treatments that preserve vision, prevent blindness, and improve the quality of life for children and families affected by these devastating genetic disorders.
