Research supported by our Curestarters in 2004 allowed Professor Kevin Hiom to discover a new gene involved in the development of a genetic disease called Fanconi anemia, which has now been included in a test used to accurately diagnose this rare disease. Fanconi anemia is linked to a number of developmental disabilities, as well as an increased likelihood of developing cancer, so an accurate diagnosis allows families to understand and prepare for what the future may hold for their children, and allows the best care and treatment plans to be implemented.
Fanconi anemia (FA) is a rare genetic disease where cells are unable to repair damage to their DNA as well as they should.
This can result in a variety of birth defects such as short stature, skin abnormalities and developmental disabilities. It is also known that people born with FA have a much higher risk of developing cancer, particularly the blood cancer acute myeloid leukaemia.
Although it is a rare disease, studying its causes has helped scientists understand more about the genetic causes and development of cancer. Professor Kevin Hiom is one of the scientists who has studied the biology of FA.
In 2004, your support allowed Professor Hiom to study a gene that helps cells repair damage to DNA and is often mutated in cancer. Mutations to the gene, called BRCA1, were also thought to be involved in the development of FA but its role at the time was unclear. His research ultimately uncovered a new gene, called BRIP1, and this breakthrough led to mutations in the BRIP1 gene being used to more accurately diagnose people with FA. This is important because treatment for FA can differ depending on the type diagnosed.
Since this discovery, the role of BRIP1 mutations in cancer have been studied, and evidence has emerged that mutations to this gene are involved in over 2% of all cancers.
This includes common cancers like breast, lung, bowel and skin cancer, which equates to nearly 350,000 people who are diagnosed with cancer every year worldwide.
It is hoped that understanding more about how this gene is involved in their development will lead to better ways to prevent, diagnose and treat these cancers.
Kevin’s findings are the starting point for new lines of research into how defects in how our cells normally behave can cause diseases such as cancer. The results of his research also highlight how important it is to study rare genetic disease such as FA. These rare conditions are often characterised by a unique and interesting biology from which a better understanding can lead to discoveries that impact on other diseases.
By becoming a Curestarter, you can help us continue to support more bright ideas like Professor Hiom's - allowing us to potentially uncover new knowledge about cancer that could lead to lifesaving new ways to prevent, diagnose, and treat cancer.
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