Losartan, a drug used against high blood pressure, is an effective treatment for cardiac complications of the cardiovascular phenotype of Williams-Beuren syndrome. This is the result of a recent clinical trial coordinated by the researcher Luis Pérez-Jurado, of the University Pompeu Fabra University and CIBER of Rare Diseases. Pérez-Jurado spoke about the study and the genetic basis of the disease during an IDIBELL seminar held on December 16h in the hall of the Duran y Reynals Hospital.

The Williams-Beuren syndrome is a neurodevelopmental disorder that can appear in one of every 7,500 births. The disease is caused by loss of a fragment of DNA, which affects between 26 and 28 genes in the 7q11.23 region, in one of the two chromosomes 7. The disease comes in several variants, which are characterized by cognitive, cardiovascular and metabolic problems, and hypercalcemia. Patients have characteristic facial features, with elongated face, thick lips and small nose, which give them an Elvish look. Affected individuals have a highly developed musical ability, a developed sociability and high linguistic ability. By contrast, patients manifest severe psychomotor and visuospatial difficulties.

Since eighteen years ago, Dr. Pérez-Jurado is dedicated to study this disease. His group has helped to identify the alteration of several genes associated with the syndrome. From a study of 400 families affected, the group led by Perez Jurado has contributed to the description of previously unknown medical complications, such as portal hypertension, of which he described the molecular mechanisms.