Clinical and genetic analysis of retinopathy of prematurity

早产儿视网膜病变的临床及遗传学分析

• 批准号: 10431850
• 负责人: John Peter Campbell
• 金额: $ 58.28万
• 依托单位: OREGON HEALTH & SCIENCE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-09-30 至 2024-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10431850
• 关键词: Address; Adoption; Affect; Algorithms; Area; Artificial Intelligence; Bioinformatics; Biomedical Research; Blindness; Blood Vessels; Caring; Childhood; Clinical; Clinical Informatics; Clinical Medicine; Clinical Research; Cohort Studies; Computational Biology; Data; Detection; Development; Diagnosis; Disease; Disease Management; Environment; Evaluation; Expert Systems; Feedback; Funding; Gene Expression; Genes; Genetic; Genetic Markers; Genetic Risk; Genomics; Genotype; Goals; Grant; Health; Image; Image Analysis; Infant; Informatics; Information Management; International; Knowledge; Longitudinal Studies; Machine Learning; Macular degeneration; Measurement; Medical Genetics; Mendelian randomization; Methods; Modeling; Molecular Genetics; Network-based; Ophthalmic examination and evaluation; Ophthalmology; Other Genetics; Paper; Pathogenesis; Peer Review; Perception; Performance; Phenotype; Predisposition; Premature Birth; Premature Infant; Publishing; Reference Standards; Research; Research Personnel; Retina; Retinopathy of Prematurity; Risk; Risk Factors; Severities; System; Technology; Testing; United States; Validation; Work; analytical tool; base; biomedical informatics; care delivery; clinical diagnosis; clinical examination; clinical phenotype; clinical risk; clinically significant; computer science; data access; data integration; deep learning; detection platform; diagnosis standard; disorder risk; feature extraction; genetic analysis; genetic variant; high risk; imaging genetics; improved; insight; machine learning prediction; multidisciplinary; multiple data types; neovascular; neural network; novel; phenotypic data; prospective; prototype; real world application; recruit; retinal imaging; risk prediction model; screening; serial imaging; supplemental oxygen

Project Summary The long-term goal of this project is to establish a quantitative framework for retinopathy of prematurity (ROP) care based on clinical, imaging, genetic, and informatics principles. In the previous grant period, we have developed artificial intelligence methods for ROP diagnosis, but real-world adoption has been limited by lack of prospective validation and by perception of these systems as “black boxes” that do not explain their rationale for diagnosis. Furthermore, although biomedical research data are being generated at an enormous pace, much less work has been done to integrate disparate scientific findings across the spectrum from genomics to imaging to clinical medicine. This renewal will address current gaps in knowledge in these areas. Our overall hypotheses are that developing a quantitative framework for ROP care using artificial intelligence and analytics will improve clinical disease management, that building “explainable” artificial intelligence systems will enhance clinical acceptance and educational opportunities, and that analysis of relationships among clinical, imaging, environmental, and genetic findings, in ROP will improve understanding of disease pathogenesis and risk. These hypotheses will be tested using three Specific Aims: (1) Evaluation performance of an artificial intelligence system for ROP diagnosis and screening prospectively. This will include: (a) recruit a target of over 2000 eye exams including wide-angle retinal images from 375 subjects at 5 centers, (b) optimize an image quality detection algorithm we have recently developed, and (c) analyze system accuracy for ROP diagnosis and screening (using a novel quantitative vascular severity scale). (2) Improve the interpretability of our existing artificial intelligence methods for ROP diagnosis. This will include: (a) increase “explainability” of systems by combining deep learning with traditional feature extraction methods, (b) develop neural networks to identify changes between serial images, and (c) evaluate these methods through systematic feedback by experts. (3) Develop integrated models for ROP pathogenesis and risk. This will include: (a) build and improve ROP risk prediction models based on clinical, image, and demographic features, and (b) integrate genetic, imaging, clinical, and environmental variables through genetic risk prediction by machine learning, by investigating casual relationships with genetic variants and genetic risk scores, and by incorporating SNP associations with gene expression measurements to identify functional genes of ROP. Ultimately, these studies will significantly reduce barriers to adoption of technologies such as artificial intelligence for clinicians, and will demonstrate a prototype for health information management which combines genotypic and phenotypic data. This project will be performed by a multi-disciplinary team of investigators who have worked successfully together for nearly 10 years, and who have expertise in ophthalmology, biomedical informatics, computer science, computational biology, ophthalmic genetics, genetic analysis, and statistical genetics.

项目总结