Epigenetics and Cancer research group led by Manel Esteller at IDIBELL has launched a campaign of crowdfunding in Verkami platform to raise funds for research into new treatments for girls with Rett Syndrome. This research is supported by the Catalan Association of Rett Syndrome and by the Spanish Rett Syndrome Association.
Rett syndrome is the second most common cause of mental retardation in females after Down syndrome.
It is a neurodevelopmental disease whose clinical symptoms begins to appear 6-18 months after birth and is a loss of intellectual, social and motor skills accompanied by autistic behaviors such as repetitive movements of the hands.
It affects approximately 1 in 10.000-15.000 children and is usually due to the presence of a mutation in the MECP2 gene, an epigenetic gene that controls the activity of many other genes of the cell.
There is currently no effective treatment for the disease, although recent scientific advances indicate that it could be possible to reverse the syndrome. To date, we have investigated various drugs that improve some symptoms of the disease. However, it is necessary to evaluate its effects on neurons and at preclinical level, to get this funding we started this campaign.
To improve the quality of life of the girls affected by Rett syndrome is our goal.
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