ESRRG is known to play a role in the early development of the retina and other components of the nervous system but had never been linked to retinoblastoma before. When the scientists analyzed these other mutations, they discovered that many were involved in the same signaling pathway inside cells: a molecular network that regulates ESRRG. While 94% of the tumors contained RB1 mutations, many also contained other altered genes.
Harbour and his colleagues analyzed genes and proteins in tumor cells from 103 retinoblastoma patients, representing the largest sequencing analysis of retinoblastoma reported to date. However, there are currently no specific, targeted therapies doctors rely on broad-acting chemotherapy drugs that carry numerous side effects and toxicities. It is most often diagnosed in children under 2 and has been associated with mutations in the RB1 gene. Retinoblastoma is a rare cancer affecting the retina – the tissue in the back of the eye that receives light and converts it into signals to the brain. Harbour served as Vice Chair for Translational Research at the Bascom Palmer Eye Institute at the University of Miami.
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