Child Health Pilot Project Abstract - Powers, Mike, MD

Powers, Mike, MD, Associate Professor Dept. of Pediatrics Pulmonary Medicine, OHSU

“Predicting Genetic Susceptibility to Onset and Severity of Retinopathy of Prematurity (ROP) in Low Birth Weight Infants, for Pre-Pathology Diagnosis and Intervention”

To develop a gene/SNP testing diagnosis kit that will be used whenever an infant is born prematurely to predict the likelihood of this individual of developing clinically significant retinopathy of prematurity (ROP), and thus allow the administration of preventative therapy tailored specifically for that individual, prior to onset of disease, to prevent blindness or visual impairment.

Retinopathy of prematurity (ROP) is a common blinding disease of premature infants in the United States. Our long term goal is to develop therapies tailored to an individual’s genotype to prevent vision loss as a result of ROP in low birth weight (LBW) premature infants. Our hypothesis is that polymorphisms within genes or the promoter of these genes that promote angiogenesis or antiangiogenic processes can be used to predict whether a premature infant will develop ROP. By comparing the genotypes from a large number of premature patients with and without ROP that have been clinically well characterized according to the international ROP grading system we aim to determine whether a single polymorphism or a haplotype within a single or a combination of genes is associated with any form of ROP. We have established a ROP database and are initiating a gDNA bioresource with information on premature infants observed at Doernbecher Children’s Hospital (DCH) and Casey Eye Institute (CEI). We will expand this database to include other centers within Oregon and other national CTSA centers. We have categorized premature infants into 3 main groups: A) Low Birth Weight (LBW) infant with no signs of ROP; B) LBW infant with ROP but not treated for neovascular disease and C) LBW with ROP and treated for neovascular disease. This database/gDNA resource is a crucial requirement for genetic analysis of a complex disease and will give this study a unique advantage over previous studies that have used far too few numbers to obtain a significant result and less well phenotypically characterized populations. Identifying specific genes responsible for the pathogenesis of ROP may identify those children at risk for the development of neovascular disease. This may prompt stringent monitoring of these children and possibly earlier intervention.