29/02/2012

Vall d'Hebron University Hospital is a national and international reference center to the study of the rare diseases, which on February 29 celebrate the World Day. Many of our clinical groups are experts recognized in this type of diseases. Fruit of this clinical activity, Vall d'Hebron Research Institute (VHIR) has developed a very active environment of work in the area of the physiopathology and the treatment of the rare diseases. We have more than ten research groups that study aspects related to the genetics and the new therapeutic approximations in rare diseases in the areas of neurology, pediatrics, immunology, cardiology and hematology. In this context, some of the lines of major scientific activity with clear translational vocation are: Rare Diseases of the neurodevelopmentDr. Alfons Macaya This research is based on the application of 1) NGS technology for the optimization of the diagnostic process and search of new causative genes of disease and 2) New therapies in: neuromuscular diseases, neurometabolics and serious paediatric epilepsies.Rare diseases at Cibbim-Nanomedicine Dra. Carmen Domínguez We investigate the diagnosis of rare lisosomals diseases (the reference group of the hospital the one that appears in the Map of Clinical Laboratories for the diagnosis of Minority Diseases of Catalonia, organized by CatSalut), doing the diagnosis of 44 different diseases. We are working with projects to obtain nanomedicines for substitute enzymatical therapy with Fabry's disease (project financed by 'La Marató' of TV3 and that received the maximum quantity of funding given in the calls for minority diseases).Study of the Aortic Pathology in the fibrilinopathies. From genetics to treatment Dr. Arturo Evangelista The Multidisciplinary Unity of the Marfan Syndrome and other fibrilinopathies raises a research project that includes the genetic study, the valuation of biomarkers as the TGF-B, the analysis of the biomecanics of the wall of the aorta for magnetic resonance and the pronostic and therapeutic implications. The different expression genotypic-fenotypic and the major virulence of the disease, even inside the members of the same family, force to investigate what factors determine the most aggressive expression of the disease, which would facilitate a more suitable treatment and control.Physiopathologic mechanisms and therapeutic approximations for the mitochondrial diseases Dr. Ramon Martí Genetic-Molecular studies of the mitocondrial diseases, those due to mutations in structural genes of the mitocondrial DNA, and also those due to mutations in nuclear DNA. Experimental approximations to penetrate into the knowledge of its physiopatology to biochemical and molecular level. Preclinical studies for the gene and pharmacological therapy of the deplection syndromes of the mitochondrial DNA, as subgroup of these diseases.Study of the molecular variants related to the delection Syndrome 22q11 Dra. Ana Cueto From a group of patients with delection 22q11 with very variable clinical manifestations, to delimit the extension of the delection and to study other variants (near the region or in the preserved alelo) that can influence the variability of the phenotype, so much psychically as physicist. Protocol of quickly diagnosis of the primary immunodeficiencies Dr. Ricard Pujol The immunology area has projects in process with the aim to identify biomarkers of therapeutic response in autoimmune diseases. Inside this project&nbsp, we are using mostly transcriptomics profiles that might complement with proteomic profile study and interpretation bioinformatics advanced interpretation. Some already identified biomarkers are gene polimorfisms génicos for whose can be useful in tools of system biology. Endocrinological paediatric diseases of genetic origin Dr. Antonio Carrascosa Human growthMolecular studies in the area of human growth included the four major genes involved in GH secretion and action: the GHRH gene, the GHRHR gene, the GH1gene and the GHR gene. These genes have been studied in normally-growing populations and in pediatric populations with chronic growth retardation and short stature: GH deficiency, ISS and children born SGA. Polymorphisms and mutations have been detected and their contribution to adult height, to clinical disease phenotype and to growth response to GH therapy, have been evaluated.Rickets. Environmental and genetic factors These factors are analysed in the context of local and international studies on populations of different ethnic origin (Caucasian, African and Asian). Polymorphisms of Vitamin D receptor gene and other genes related to skin colour are being studiedDisorders of sex development Our group is a reference for the molecular diagnosis of several genes in patients with 46,XY karyotype. To date, 165 index patients with 46 XY karyotype have been evaluated. We are now participating in a wide European Research project to set up a database registry and identify mutations in other potential genes. Familial isolated glucocorticoid deficiency Novel mutations and their functional analysis in several genes have been described in collaboration with Dr. Flück of Bern.