New test for genetic disorder | Action Medical Research

Touching Lives - March 2004

New test for genetic disorder

NF1 causes significant abnormalities including skeletal deformities, tumours of the central nervous system, learning difficulties and blindness. The symptoms of the disease are very variable — especially in younger patients — which can make diagnosis difficult.

The exact function of the gene affected in NF1 is unclear, and hence little is known about how changes in the gene result in the disease. In addition, the NF1 gene is a very large and complicated one, which until now has presented a major challenge to the development of a straightforward genetic test that can be used routinely by doctors.

Genetic analysis

Thanks to a £92,000 grant, Action Medical Research Training Fellow Dr Diana Baralle has used a new form of genetic analysis to develop a rapid and accurate method for testing the NF1 gene. In the two-year study at Addenbrooke’s Hospital, Cambridge, Dr Baralle analysed DNA samples from 167 patients, allowing her to investigate changes in the NF1 gene that cause the disease.

This work will have a major impact on the lives of sufferers. Not only does this mean that the diagnosis in patients with NF1 can now be confirmed but also that risks to other family members can be assessed more accurately. In addition, Dr Baralle’s success has helped to advance our understanding of the complicated process of how genes work within the body, and how abnormal genes can lead to diseases such as neurofibromatosis. This is crucial for the development of future treatments.

Dr Baralle told us, “I have thoroughly enjoyed my training fellowship. It has allowed me to pursue my research interests full-time for two years. I’m sure the research experience has made me a better clinician. ^I looked in detail at the gene that causes NF1 and this led to the development of an efficient genetic test for the disorder^. Further studies are ongoing and very exciting — I hope to continue working in this field in the future.”

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