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.
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Table of Contents
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
Authors
Xiaoyi Raymond Gao Associate Professor, Departments of Ophthalmology and Visual Science and Biomedical Informatics, Division of Human Genetics, The Ohio State University, Columbus, OH, USA. Dr. Xiaoyi "Raymond� Gao is an Associate Professor in the Department of Ophthalmology and Visual Sciences, the Biostatistics and Genetic Analysis Core Director of the P30 departmental core grant, and the Director of the Quantitative Ocular Genomics Laboratory at the University of Illinois at Chicago (UIC). He is an experienced statistical geneticist and leader of ocular genomics research for multiple National Eye Institute funded projects on glaucoma in Hispanics/Latinos, steroid-induced ocular hypertension, and ocular biostatistics and genetic analysis. His goal is to advance genomic-based discoveries in ocular diseases and traits and to reduce the burden of blindness.Dr. Gao has a unique interdisciplinary background in bioinformatics, statistics and genetics. After receiving his PhD in Bioinformatics-Statistics from North Carolina State University, Dr. Gao completed his post-doctoral training in statistical genetics at Duke University Center for Human Genetics and the John P. Hussman Institute of Human Genomics at the University of Miami. He then worked at the Division of Statistical Genomics at Washington University in St. Louis and the Department of Ophthalmology and Preventive Medicine at the University of Southern California before joining UIC Ophthalmology.
Dr. Gao has published widely on a variety of topics in vision research, statistical genomics, and genetic epidemiology.
