Professor David Rubinsztein and Professor John Todd

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Medical genetics' research has developed considerably over the past sixty years, and is helping to understand the genetic factors implicated in human disease and normal and abnormal development and physiology.

Our research at the Cambridge BRC refers directly to the application of genetics to medical care and is necessary because, without it, illnesses such as diabetes, Huntington's disease (HD) and oculopharyngeal muscular dystrophy (OPMD) will continue to pass on from generation to generation.

Genetic disorders can affect people of all ages and all body systems. We are concerned with the diagnosis of disorders and birth defects caused by genetic mechanisms and with risk estimation and genetic counselling - knowing how those diseases can be prevented, stopped, or treated - of family members. Environmental issues play an important part too; some people may carry the gene for a particular genetic disease but never develop any health problems, while others may be stricken aggressively.

Genetic screening is one of the most important areas managed by medical genetics research. This involves having pregnant women tested for possible genetic abnormalities that may manifest in their babies, and children or adults who think that they may have some form of genetic abnormality. The research finds out if there are any abnormalities and, if so, what those abnormalities actually are and from there identifies what can be done to correct them.

We would like to take this opportunity to acknowledge the vital contribution made by Cambridge BioResource which continues to help recruit volunteers onto our clinical trials.

Professor David Rubinsztein

Professor John Todd
May 2011