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Genetics and Genomics of Eye Disease - 1st Edition - ISBN: 9780128162224, 9780128167274

Genetics and Genomics of Eye Disease

1st Edition

Advancing to Precision Medicine

Editor: Xiaoyi Gao
Paperback ISBN: 9780128162224
eBook ISBN: 9780128167274
Imprint: Academic Press
Published Date: 12th September 2019
Page Count: 383
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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.

Key Features

  • 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

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


No. of pages:
© Academic Press 2019
12th September 2019
Academic Press
Paperback ISBN:
eBook ISBN:

About the Editor

Xiaoyi Gao

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.

Affiliations and Expertise

Associate Professor, Departments of Ophthalmology and Visual Science and Biomedical Informatics, Division of Human Genetics, The Ohio State University, Columbus, OH, USA


"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

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