Genetics and Genomics of Eye Disease

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 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

Pediatric and adult ophthalmologists; human geneticists; basic and translational human genomics researchers; life science researchers, biochemists, and molecular biologists; genetic counselors; ophthalmology residents and trainees; medical geneticists; research students in ophthalmology, human genetics, and precision medicine; medical students

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