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Genetics and Genomics of Eye Disease

Advancing to Precision Medicine

Buch | Softcover

383 Seiten

2019
Academic Press Inc (Verlag)
978-0-12-816222-4 (ISBN)

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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.

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.

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

Erscheinungsdatum	20.09.2019
Verlagsort	San Diego
Sprache	englisch
Maße	191 x 235 mm
Gewicht	770 g
Themenwelt	Informatik ► Weitere Themen ► Bioinformatik
Themenwelt	Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie
ISBN-10	0-12-816222-8 / 0128162228
ISBN-13	978-0-12-816222-4 / 9780128162224
Zustand	Neuware