As you know, we founded Eva’s Friends to raise awareness of rare neurological conditions in children and raise funds for pioneering research and next week (25th June – 1st July) will see the launch of a new fundraising initiative – the 1 in 20,000 campaign.
Named after the fact that there are approximately 20,000 genes in the
human genome and a fault in just one of them can cause a serious genetic condition, the week will ask people to donate
£2 a month to fund research into changing the lives of children with rare
neurological conditions for the better.
A few months ago doctors discovered Eva has not one but two genetic mutations - one in a gene called GRM1 - and the other in a gene called MECP2. The effects of the GRM1 mutation are still unclear, but Eva’s MECP2 mutation indicates that she has an atypical variant of Rett Syndrome, a rare, debilitating neurological condition that affects mainly girls impairing brain function in relation to sensory, emotional, motor and autonomic function.
Research has shown however that Rett syndrome is one of the few neurological conditions to demonstrate dramatic symptom reversal in the lab and more research has the potential to find a cure. This is why the first 1 in 20,000 research project will be in collaboration with the Rett Syndrome Research Trust (RSRT), who fund an established global network of research teams dedicated to finding treatments and cures for Rett syndrome. This collaboration enables us to accelerate cutting edge research which is moving closer to a cure.
To donate £2 a month to the 1 in 20,000 campaign and help fund research into making a breakthrough in treatments and cures for Rett Syndrome, CLICK HERE