Complex Disease Genes and Their Discovery View Full Text


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Chapter Info

DATE

2019-12-20

AUTHORS

Jeffrey C. Barrett , Mark J. Daly

ABSTRACT

The study of the genetic underpinning of heritable human diseases stretches back nearly a century. While thousands of mutations in single genes have been found that cause severe “Mendelian” disorders, attempts to find such single genes for complex diseases have been relatively unsuccessful. Instead it has become clear that complex diseases, like IBD, are affected by many (likely hundreds or even thousands) different genes as well as environmental factors. Here we describe the process by which that discovery was made, as well as the technological advances from small-scale candidate gene to genome-wide association studies. These approaches, especially when undertaken in large-scale collaborations, have unlocked thousands of complex disease genes, including 163 associated with IBD. Despite these exciting developments, the discovery of genes represents the first stage in translating that knowledge into biological understanding of disease and possible future treatments. More... »

PAGES

79-89

Book

TITLE

Molecular Genetics of Inflammatory Bowel Disease

ISBN

978-3-030-28702-3
978-3-030-28703-0

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-3-030-28703-0_4

DOI

http://dx.doi.org/10.1007/978-3-030-28703-0_4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1123542633


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