Annemieke Aartsma-Rus: Playing hide and seek with the Duchenne gene

Annemieke Aartsma-Rus: Playing hide and seek with the Duchenne gene

Trying to slow down a genetic disease

One in five thousand boys are born with Duchenne. It is a serious genetic defect which causes continuous and irreversible damage to muscle tissue. Duchenne is mostly diagnosed when children are around four or five years old. The first signs are that motor development is delayed and the child trips frequently. The muscle loss is progressive: patients end up in a wheelchair and will eventually need assisted ventilation. Their life expectancy is around thirty years. At the Leiden University Medical Centre Annemieke Aartsma-Rus works on new therapies for Duchenne patients.