Genetics meets pathology - an increasingly important relationship

Abstract

The analytical power of modern methods for DNA analysis has outstripped our capability to interpret and understand the data generated. To make good use of this genomic data in a biomedical setting (whether for research or diagnosis), it is vital that we understand the mechanisms through which mutations affect biochemical pathways and physiological systems. This lies at the centre of what genetics is all about, and it is the reason why genetics and genomics should go hand in hand whenever possible. In this Annual Review Issue of The Journal of Pathology, we have assembled a collection of 16 expert reviews covering a wide range of topics. Through these, we illustrate the power of genetic analysis to improve our understanding of normal physiology and disease pathology, and thereby to think in rational ways about clinical management. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Keywords: Crispr/Cas9; DNA repair; DNA sequencing; PARP; PINK1; Parkinson's disease; TGF-beta; atopy; autoimmunity; brain tumour; breast cancer; carcinoma in situ; ciliopathy; clonality; colon cancer; complex traits; evolution; genetics; genome stability; genomics; inflammasome; inflammatory bowel disease; mTOR; mitochondrial disease; molecular oncology; muscular dystrophy; polyposis; precision medicine; prostate cancer; pulmonary hypertension; rare diseases; stem cells; tuberous sclerosis; vascular malformation.