Dr. Roser Urreizti is a postdoctoral fellow at CIBERER, Universitat de Barcelona (Spain). Roser’s work focuses on searching for the gene or genes responsible for Opitz C Syndrome, by means of whole exome sequencing and functional studies. One of the distinguishing features of C Syndrome is a condition in which the skull is a triangular shape, primarily due to premature closure of the cranial sutures. The disease is also characterized by mental retardation, loss of muscle tone, abnormalities of the sternum, facial palsy, webbed fingers and/or toes, contractures, short limbs, heart defects, failure of one or both testicles to move down into the scrotum, (cryptorchidism), abnormalities of the kidneys and lungs, deformity of the lower jaw, and seizures.
In the 2015 BeHEARD Competition, Roser was awarded whole exome sequencings from Euformatics, which allowed her team to confirm that they had found the genetic cause behind the disease.
“In the patients analyzed by the Euformatics platform, we have identified the disease-causing mutation,” says Roser. “We have already started functional studies for every one of the genes associated with the diseases. None of them had been previously associated with Opitz C syndrome. We hope we will be able to test therapeutic approaches (molecular chaperones) in one year in a near future. We have started a collaboration to test selected FDA approved drugs on a patient's cells in a search for therapies once the functional studies confirm the relation between the mutation and the disease.”