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 Precipita campaign aims to raise 25,000 euros to advance the study of the molecular causes of CDLS and identify potential therapeutic targets. Preliminary results indicate Queralt group that many symptoms associated with this disease are due to changes in gene expression. To understand the molecular basis of this syndrome, gene expression studies will be performed in patients. This will be crucial to identify genes that are differentially expressed in patients and that will be the basis for developing new therapies.
The campaign is open until January 11 and you can collaborate in this link: Precipita Cornelia de Lange syndrome