Category: Book Review, Featured

Month: 01 Nov 2019

Issue: not yet available


Genetics and Genomics of Eye Disease, 1st Edition – Advancing to Precision Medicine (Elsevier) Editors: Xiaoyi Gao Ph.D.

Genetics and Genomics of Eye Disease, 1st Edition – Advancing to Precision Medicine (Elsevier)

Editors: Xiaoyi Gao Paperback ISBN: 9780128162224 eBook ISBN: 9780128167274; Pages 383, Academic Press, Published Date: 13th September 2019



Medicine has made enormous strides in the 33 years since Tom Roderick, Victor McKusick and Frank Ruddle coined the term “genomics”, and the journal, Genomes was founded. Genomics is the scientific study of a genome, or genomes, and a genome “is the complete DNA sequence containing the entire genetic information of a gamete, an individual, a population or a species” (Huntington F. Willard). The understanding of ~1500 ocular diseases, underpinned by genetics and genomics, is now rapidly improving diagnosis, counselling and treatment. The book, Genetics and Genomics of Eye Disease: Advancing to Precision Medicine, 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”. The book covers 8 broad sections with over 19 chapters. It outlines the beginnings of early linkage analysis to whole genome sequencing with the biggest sections focus on Mendelian and complex disorders. Genetic testing and “Big data” provide an important contribution. A final chapter, “Advancing to precision medicine through big data and artificial intelligence” sets out the connections from genetics to artificial intelligence and machine learning. The combination of digital inputs – genomic data, fundus images, optical coherence tomography and others – are aimed to synthesise enormous information over the coming decade, likely useful to both clinicians and researchers in the field of ocular medicine.

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