Fàtima Bosch awarded Dr Antoni Esteve Foundation's Research Prize

The work in gene therapy which has managed to cure Sanfilippo Syndrome type A in animal models, directed by Fàtima Bosch, has been considered to be one of the two best pharmacological research papers in Spain by the jury for the research prize awarded by the Dr Antoni Esteve Foundation.

15/06/2015

The research prize awarded by the Dr Antoni Esteve Foundation was given to two papers. The international jury which meets every two years to award this prize this year has decided the award goes to Fàtima Bosch's team for the 2013 publication in Journal of Clinical Investigation of a paper on gene therapy capable of curing Sanfilippo Syndrome type A in animal models; and the paper by UPF researcher Rafael Maldonado, published in Nature Medicine also in 2013, on the Fragile X syndrome (FXS). The prize, consisting in 18,000 euros, will be equally divided by the Centre for Animal Biotechnology and Gene Therapy (CBATEG) of the Universitat Autònoma de Barcelona, directed by Fàtima Bosch, and the Neuropharmacology Laboratory directed by Rafael Maldonado at the Pompeu Fabra University (UPF).

Sanfilippo Syndrome type A is a neurodegenerative disease which affects between one and nine of every 100,000 children. The disease is caused by mutations in the gene that encodes the enzyme sulfamidase and it causes mental retardation, aggressiveness, hyperactivity, sleep alterations, loss of speech and motor coordination. Children born with this disease are diagnosed around the age of 4 or 5 and die in adolescence.

The two research projects chosen for the prize have both developed a gene therapy treatment which cures this disease in model animals, with preclinical trials in mice and dogs. The treatment consists of a single surgical intervention in which an adenoassociated viral vector is injected into the cerebrospinal fluid, the liquid that surrounds the brain and the spinal cord. The virus, which is completely harmless, genetically modifies the cells of the brain and the spinal cord so that they produce sulfamidase, and then spreads to other parts of the body, like the liver, where it continues to induce production of the enzyme. Thanks to the treatment, the animal's behaviour returns to normal and their life expectancy reaches normal levels.

The research study "Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy", by lead authors Virginia Haurigot and Sara Marcó, paves the way for the development of new gene therapy products aimed at treating rare neurodegenerative diseases.

The awards ceremony will be celebrated on 23 June at 1 pm at an event which will take place at the Faculty of Veterinary Medicine of the Universitat Autònoma de Barcelona. This is the 14th edition of the Research Prizes, awarded every two years to the best pharmacological research paper published by a Spanish author in a scientific journal maximum two years before the awarding of the prize.