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A STEP FORWARD FOR RARE CHILDHOOD DISEASE

Fanconi anaemia (FA) is a rare incurable genetic condition which affects children from birth. By identifying the genetic causes of FA, diagnostic tests and eventually better treatments can be developed. With funding from Worldwide Cancer Research, Professor Kevin Hiom identified a gene involved in FA and discovered that mutations in this gene can cause the disease.

Children born with FA can have severe problems. They are more likely to develop cancers such as acute myelogenous leukaemia, and many will also develop bone marrow failure meaning they cannot fight infections. One of the only long term treatment options is a bone marrow transplant, this is most successful if donated from a healthy sibling.

When children have FA, their cells are not very good at repairing damaged DNA. This is because the child has inherited genetic changes which mean they produce faulty proteins involved in the DNA-repair process. Back in the early 2000s, scientists already knew some of the genes involved in FA. But they were still not sure of all the genetic changes which can cause the disease. In 2004, Worldwide Cancer Research awarded a grant to Professor Kevin Hiom at the University of Dundee to investigate proteins and genes involved in FA. Through this work he was able to identify a gene called BRIP1. Further experiments showed that BRIP1 was involved in the cell DNA-repair processes affected by FA. He was then able to uncover specific mutations of BRIP1 which can cause FA.

This was a very important finding, and Professor Hiom’s work proved a significant step forward in the understanding and diagnosis of FA. Doctors can now test for BRIP1 mutations when screening for this disorder. This project not only identified a critical gene in the diagnosis of a rare genetic disease, but by increasing understanding of the pathways involved in FA, it could also prove essential in the development of future therapies.

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