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Progress in the study of genetic disease: bringing new light to complex problems
  1. Andrew Shelling
  1. Correspondence to Dr A N Shelling, Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, 85 Park Road, Auckland 1004, New Zealand; a.shelling{at}

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Recent advances in genetic research have led to a dramatic increase in the number of genes found to be associated with the development of inherited human diseases. For many genetic disorders, increased knowledge has led to a better understanding of the underlying causes, allowing genetic diagnosis and preventive medicine, as well as the development of new therapies based on the molecular biology. For some people, these developments in genetic science have been disconcertingly rapid, as discoveries at the research laboratory bench move far ahead of our current understanding of the implications. However, like most advances in technology, most developments will eventually lead to welcome improvements in human health.

Genome-wide association (GWA) studies, candidate gene approaches and complex disease

In particular, it has been the rise in GWA studies that has provided important new developments in our understanding of human disease. Advances that have occurred only in the past 2 years have led to dramatic developments in our basic understanding of the pathobiology of many previously intractable complex diseases.1 2 Complex diseases are conditions in which multiple genetic variants combine with environmental factors to provide an increased likelihood of a particular disease developing. Each genetic variant makes a small contribution to the disease, but is not sufficient by itself to cause the disease. Genetic variants may interact with other variants and also with environmental factors, such as diet, smoking, hormones, exposure to pollution and other lifestyle factors, often making it difficult to understand which are the most important. Although complex diseases can be overwhelmingly challenging to study, they may prove to be the most important genetic diseases to investigate, as they are the most common causes of death in humans.

The development of GWA studies is the result of advances in genomic technology that have arisen from the Human Genome Project. The increase in our understanding of the presence in …

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  • Competing interests None.

  • Provenance and peer review Commissioned; not externally peer reviewed.

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