Our impact: Helping to diagnose rare genetic diseases

11th November 2020

In 2004, Professor Kevin Hiom started a project funded by Worldwide Cancer Research to understand more about a fundamental process that keeps us healthy – DNA repair. Through this research, Professor Hiom discovered a new gene which was involved in the development of a rare genetic disease called Fanconi anemia.

Thanks to this discovery, the gene is included in a test used to accurately diagnose Fanconi anemia. This rare disease is linked to a number of developmental disabilities, as well as an increased likelihood of developing cancer. An accurate diagnosis allows families to understand and prepare what the future may hold for their children. And importantly, a correct diagnosis 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’s also known that people born with FA have a much higher risk of developing cancer, particularly the blood cancer acute myeloid leukaemia. FA is a genetic disease that a person can inherited from their parents, even if the parents don’t display any symptoms of the disease. Although FA is a rare disease, studying its causes has helped scientists to understand more about the genetic causes and development of cancer.

Professor Kevin Hiom is one of those scientists who has studied the biology of FA to better understand cancer. In 2004, then at the MRC Laboratory of Molecular Biology, Cambridge, Kevin started a project with Worldwide Cancer Research 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 it’s role at the time was unclear.

Kevin’s research ultimately uncovered a new gene, called BRIP1, which they showed could lead to cells looking like those affected by FA if the gene was mutated. This breakthrough has now led to mutations in the BRIP1 gene being used to more accurately diagnose people with FA. This is important because how people with FA are treated can differ depending on the type of FA they are diagnosed with.

Since this discovery, the role of BRIP1 mutations in cancer have been studied. Evidence has emerged that mutations to this gene are involved in over 2% of all cancers including breast, lung, bowel and skin cancer. That’s 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. It also highlights 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.

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