The lab has access to an ABI Sequencing Genetic Analyser, which enables the research team to screen patients and their families for mutations in the Marfan gene. Marfan is a disease that effects the eyes, heart and skeleton and is incurable. Once a mutation has been identified, it can be used for diagnostic screening of at-risk family members, so that preventive therapy can be offered at the optimum time, thus improving the quality and quantity of life expectancy.

12,000 people are currently living in the UK with Marfan syndrome and by  diagnosing them early we can save their lives. 25% of patients with Marfan are not inherited so it could affect any one of us at anytime.

Our cardiovascular genetics team led by Dr Anne Child and Dr Jose Antonio Aragon-Martin is largely funded by the Marfan Trust, a small charity, formed with the intention of creating awareness of Marfan syndrome.

They need your help to keep the lab so they can save the lives of people living with this incurable disease.