Discovery

Marfan syndrome is a genetic disorder that makes renders the body’s connective tissues incredibly fragile; this can weaken the heart, leading to potentially fatal aneurysms. What’s more, anyone with the condition has a 50/50 chance of passing it on to their children.Dr Anne Child is a clinical geneticist who’s dedicated her professional life to finding answers and solutions for people affected by Marfan’s.Born in Canada, she met her British future-husband while working in Montreal in a case she describes as "love at first sight" - and in the 1970s she relocated her life to the UK.There, an encounter with a Marfan patient she was unable to help set Anne on a career path for life. She subsequently established the team that discovered the gene responsible for Marfan's, and founded the Marfan Trust to drive further research. Since then, life expectancy for those with the condition has jumped from 32 years old, to over 70.Speaking to Professor Jim Al-Khalili, Anne shares how she and her team achieved this remarkab