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Projects. Life and Matter Sciences

Type 1 Gaucher's Disease. Phenotypic variability of bone disorders and their study using techniques of genomics, transcriptomics and proteomics

Lead Researcher:
Francisco España Furió 

Research Centre:
Hospital Universitario La Fe. Valencia.

Francisco EspañaGaucher's disease (GD) is a rare lysosomal storage disease characterised by visceromegalies, growth retardation and skeletal and neurological abnormalities. It is due to mutations in the glucocerebrosidase gene (GBA) that catalyses the hydrolysis of glucosylceramide (GlcCer). The great phenotypic variability observed among patients with GD has suggested the contribution of other factors such as variations in the GlcCer synthase enzyme. This study seeks to explain this phenotypic variability. To do this, first both the GBA gene mutations and the variations in the promoter of GlcCer synthase are analysed in patients with GD. In the latter variant, a study is being conducted using functional luciferase reporter genes. On the other hand, we are evaluating the changes observed in osteoclasts derived from monocytes of patients and in osteoclastogenesis, when the pharmacological molecules used in the treatment of GD are fed to the culture medium. Finally, the findings observed will be related in vitro with the clinical features and therapeutic response of patients.


8 articles published in Journals
5 papers at national conferences
7 papers at international conferences

Francisco España Furió.
Born in Alzira (Valencia) on 27th January 1948. He received a degree in Chemical Sciences from the University of Valencia and his Ph.D. in 1974 from the Complutense University of Madrid. In November 1974 he was appointed Registrar at the Biochemistry Unit at the Research Centre of the La Fe University Hospital in Valencia, and in June 2009 he was appointed Senior Registrar there. From 1981 to 1982 he worked with Dr. Oscar D. Ratnoff at Case Western Reserve University in Cleveland. From 1986 to 1988 he worked as a researcher with Dr. John H. Griffin at the Scripps Institute in La Jolla, California. The first line of research carried out there was on the contact phase of blood coagulation. Since 1983, after identifying a newborn baby with homozygous protein C deficiency, he has spent his entire research career trying to elucidate the pathophysiological mechanisms of the protein C anticoagulant pathway. In collaboration with Dr. Miguel Pocovi's group in Zaragoza, he recently initiated a research line that connects the protein C pathway with Gaucher's disease. He is currently the Principal Investigator of the group at the La Fe University Hospital belonging to the RECAVA Network of the King Charles III Institute, and the head of the Accredited Group on Haemostasis, Thrombosis, Arteriosclerosis and Vascular Biology at the La Fe University Hospital Foundation. He has published over 200 original articles, has presented over 350 papers to congresses on the speciality, has directed 11 doctoral theses and has participated in 37 research projects, 21 of them as Principal Investigator. He belongs to several Societies on the speciality and since 2004 has been the Vice-President of the Spanish Society for Thrombosis and Haemostasis.

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