The Academy of Medical Sciences

The Academy of Medical Sciences
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Clinical genetics


… is concerned with the investigation and diagnosis of inherited disorders in patients of all ages.


Photograph of chromosomes showing FISH hybridisation signals.
Photograph of chromosomes showing FISH hybridisation signals. © D Donnai

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In 2003 the international Human Genome Project, to sequence the entire 3 billion base pairs that make up human DNA and the approximately 25,000 genes it encodes, was completed. This has made a vast amount of new information available about the genetic basis of human disease. Analyzing this data will continue for many years and is opening up many new possibilities for further research. For example,“genomics” has become a new branch of science and research is increasing on specialisms such as pharmacogenetics - how different people react to drugs, depending on their genetic make up.

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Department of Health report on genetics (2003)

Dian Donnai is Professor of Medical Genetics in Manchester and Consultant in the NW Regional Genetics Service