Genetics meets pathology – an increasingly important relationship

• Published in: The Journal of pathology Vol. 241; no. 2; pp. 119 - 122
• Main Authors: Bonthron, David T, Foulkes, William D
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.01.2017; Wiley Subscription Services, Inc
• Subjects: Animals; Antineoplastic Agents - adverse effects; atopy; autoimmunity; brain tumour; breast cancer; carcinoma in situ; ciliopathy; clonality; colon cancer; complex traits; Crispr/Cas9; DNA Damage - drug effects; DNA repair; DNA sequencing; evolution; Genetic Testing; genetics; genome stability; Genomics; Humans; inflammasome; inflammatory bowel disease; Inflammatory Bowel Diseases - genetics; Inflammatory Bowel Diseases - therapy; mitochondrial disease; molecular oncology; mTOR; muscular dystrophy; Mutation - genetics; Parkinson's disease; PARP; PINK1; polyposis; precision medicine; prostate cancer; pulmonary hypertension; rare diseases; stem cells; TGF‐beta; tuberous sclerosis; vascular malformation; carcinoma in situ; molecular oncology; Parkinson's disease; pulmonary hypertension; PARP; tuberous sclerosis; DNA repair; mitochondrial disease; rare diseases; TGF-beta; muscular dystrophy; clonality; genetics; mTOR; genomics; genome stability; stem cells; colon cancer; atopy; breast cancer; complex traits; evolution; vascular malformation; inflammatory bowel disease; ciliopathy; PINK1; prostate cancer; autoimmunity; inflammasome; brain tumour; Crispr/Cas9; precision medicine; polyposis; DNA sequencing
• ISSN: 0022-3417; 1096-9896; 1096-9896
• DOI: 10.1002/path.4849

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.