We aim to accelerate a breakthrough in treatments and cures for rare
neurological conditions in children. Funds are allocated to specific,
cutting-edge research projects which are most likely to change children’s
Our Current Focus
At present Eva’s Friends is helping fund a gene therapy
project led by Dr Start Cobb at the University of Edinburgh to find a cure for Rett syndrome, which affects thousands of children
across the UK and worldwide.
What is Rett syndrome?
Rett syndrome is a rare genetic disorder that occurs almost
exclusively in girls. It is a serious
lifelong neurological condition that leaves children unable to walk, talk or
use their hands. In addition, breathing
problems, seizures, anxiety, and orthopaedic issues are common. It is estimated to affect about 1 in 12,000
girls born each year and is only rarely seen in boys.
At first, the child will appear to develop and grow
normally for at least 6 months. They will then gradually or suddenly start to
develop severe problems with communication and language, memory, mobility,
co-ordination and other brain functions. They start to miss developmental milestones and lose skills and abilities they have developed.