Genetics and Genomics of Eye Disease: Advancing to Precision Medicine

Genetics and Genomics of Eye Disease: Advancing to Precision Medicine 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, keratoconus, 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.

Offers thorough guidance on conducting genetic and genomic studies of eye diseaseExamines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disordersDiscusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling

Section I Introduction to gene mapping 1. Timeline of key discoveries in eye genetics 2. Segregation, Linkage, GWAS, and sequencing

Section II Mendelian Disorders and high penetrant mutations 3. Inherited retinal degenerations 4. Early-onset glaucoma 5. Strabismus

Section III Complex disorders and low effect-size risk factors 6. Age-related macular degeneration 7. Adult-onset glaucoma 8. Diabetic retinopathy 9. Kerotoconus

Section IV Genomics in the eye 10. Whole-exome sequencing and whole-genome sequencing 11. RNA-Seq and transcriptome analysis 12. Epigenetics and miRNA regulation

Section V Genetic testing and genetic risk prediction  13. Genetic testing of various eye disorders 14. Genetic risk scores and complex eye disorders

Section VI Gene-based therapy 15. Leber congenital amaurosis 16. CRISPR/CAS9 technology

Section VII Big data and precision medicine 17. Machine learning and artificial intelligence 18. Vision research in multi-ethnic populations 19. Bringing research into the clinic and application to precision medicine