Genetic discoveries helping children with Jeune syndrome
Jeune syndrome is a rare but devastating condition that affects the growth and development of babies’ bones in the womb. Babies with Jeune syndrome are born with short arms and legs and an unusually small ribcage, which can cause life-threatening breathing problems. This inherited condition can also result in eye, kidney and liver disease. Children who survive often need complex chest surgery and may face a lifetime of breathing difficulties, respiratory infections and hospital admissions. Sadly, the condition is fatal in 20 to 40 per cent of children with many losing their lives before their first birthday.
After being awarded a prestigious Action Research Training Fellowship in 2011, talented young researcher Dr Miriam Schmidts was able to investigate causes of Jeune syndrome. Dr Schmidts has identified seven new genes which cause this devastating condition. This work represents a significant breakthrough in understanding Jeune syndrome.
Families are already benefiting since genetic diagnosis helps to identify specific features of the disease, which helps doctors manage each patient’s treatment. Furthermore, Dr Schmidts, together with one of the families involved in her research, has established a support group for families affected by Jeune syndrome. This is the first of its kind in Europe and can help reduce feelings of isolation associated with this rare disease, which affects an estimated 600 people in the UK.
Improved access to genetic testing and counselling is vital, since most people are unaware that they are carrying a faulty gene which causes the condition. As Dr Schmidts comments, “It can help parents enormously just to know why their baby has been born with an inherited illness like Jeune syndrome.”