The Cornelia de Lange Syndrome (CDLS) is a very rare disease characterized by severe mental and growth retardation, and a characteristic facial dimorphism. In severe cases, there is total or partial absence of the upper limbs and psychomotor deficits have so often come to not walk.
Researchers of the Cell cycle research group at the Bellvitge for Biomedical Research Institute (IDIBELL), led by Ethel Queralt, studies genomic alterations of CDLS, in order to find markers to do prenatal diagnosis and maybe in the future, develop gene therapy treatments to control the disease.
The campaign started at Precipita crowdfunding platform aims to raise 25,000 euros for sequencing the genome of several patients looking for several markers that may be useful both for understanding the mechanisms of the disease or to become potential diagnostic or therapeutic targets. Furthermore, these analyses will also serve to confirm the molecular diagnosis of these patients.
The campaign is open until January 11 and you can collaborate in this link: Precipita Cornelia de Lange syndrome
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