Complex Disease Genes and Their Discovery

  • Jeffrey C. Barrett
  • Mark J. Daly


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.


Sickle Cell Disease Complex Disease Candidate Gene Study Mendelian Disease East Asian Ancestry 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  1. 1.Wellcome Trust Sanger InstituteCambridgeUK
  2. 2.Simches Research CenterMassachusetts General HospitalBostonUSA
  3. 3.Analytic and Translational Genetics Unit, Department of MedicineMassachusetts General HospitalBostonUSA

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