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Genetics and Genomics of Eye Disease
Advancing to Precision Medicine
Provides fundamental insights into the genetic and genomic basis of eye disease, with guidance on applying ocular genomic methods in new research
Xiaoyi Raymond Gao (Edited by)
9780128162224
Paperback, published 13 September 2019
383 pages
23.4 x 19 x 2.4 cm, 0.77 kg
"Regardless, the book summarises a significant combination of digital inputs – genomic data, fundus images, optical coherence tomography and others – aimed to synthesize enormous information over the coming decade, likely useful to both clinicians and researchers in the field of ocular medicine." --Euretina Brief "This book is highly specialized and, by nature, it will be difficult to compare. Clearly there are publications in the literature that deal with photographic documentation of genetic eye disorders. This is not an atlas; it is a concise review of knowledge. Great work and congratulations to the contributors and Dr. Gao." --Doody
Approx.365 pages
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
Subject Areas: DNA & Genome [PSAK1], Genetics [non-medical PSAK]
