Genetics and Genomics of Eye Disease

In recent years, genomics has revolutionized disease gene discovery, pharmaceutical development, and preventative screening across all medical disciplines, including ophthalmology. In employing molecular profiling and collaborative genomic studies, ocular genomics researchers are now able to gain fundamental insight into the genetic basis of eye disorders and eye disease etiology--information that may be applied in genetic risk assessment of patients, or in support of new drug discovery. Genetics and Genomics of Eye Disease thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, kerotoconus, and leber congenital amaurosis among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics, and artificial intelligence in advancing ocular genomics research and fully incorporating ocular genomics into the paradigm shift towards precision medicine. Offers thorough guidance on conducting genetic and genomic studies of eye disease Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling