Hunting human disease genes: lessons from the past, challenges for the future
The concept that a specific alteration in an individual’s DNA can result in disease is central to our notion of molecular medicine. The molecular basis of more than 3,500 Mendelian disorders has now been identified. In contrast, the identification of genes for common disease has been much more challenging. We discuss historical and contemporary approaches to disease gene identification, focusing on novel opportunities such as the use of population extremes and the identification of rare variants. While our ability to sequence DNA has advanced dramatically, assigning function to a given sequence change remains a major challenge, highlighting the need for both bioinformatics and functional approaches to appropriately interpret these data. We review progress in mapping and identifying human disease genes and discuss future challenges and opportunities for the field.
- Hunting human disease genes: lessons from the past, challenges for the future
- Open Access
- Available under Open Access This content is freely available online to anyone, anywhere at any time.
Volume 132, Issue 6 , pp 603-617
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- Author Affiliations
- 1. Department of Medicine, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada
- 3. Translational Laboratory for Genetic Medicine, National University of Singapore and the Association for Science, Technology and Research (A*STAR), Singapore, Singapore
- 2. Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada