Dr. Jordi Barquinero Máñez

I am an MD specialized in Internal Medicine (Vall d'Hebron University Hospital). I worked at the Intensive Care Unit (HUVH) and the Emergency Department of the Hospital de l'Esperança. I did pre-doctoral studies on autoimmunity at the University of Louisville (Dr. N. Harris) and got my PhD at the Autonomous University of Barcelona with Extraordinary Award, with a work that contributed to the description of a new disease, the primary antiphospholipid syndrome. I was a postdoc at the Fred Hutchinson Cancer Research Center (Dr. R. Storb, Seattle), where I was trained in hematopoietic stem cell gene therapy. I am currently group leader of the gene and cell therapy group (VHIR), where we investigate new therapeutic strategies for rare genetic diseases, mostly in collaboration with other groups on campus and from other national and international institutions. We have participated in research projects using models of multiple sclerosis, hemophilia, MNGIE, in a clinical trial for Fanconi anemia type A (coordinated by Drs. J. Bueren and P. Río, at the CIEMAT (Madrid)), and more recently, in a novel gene therapy approach for muscular dystrophy due to merosin deficiency, in collaboration with the Pediatric Neurology group (Drs. F. Munell and D. Gómez). Our group is part of the national network TERAV (RICORS). I have participated in European projects (INHERINET, CONSERT), including one as coordinator (HEMO-IPS, e-Rare-2), in which we experimentally demonstrated the mutagenic mechanism of the "Royal disease", the form of hemophilia B that affected several European royal families in the 19th and 20th centuries. I participate as a teacher in different master's degrees and I am a member of the American and European Gene and Cell Therapy Societies, and was one of the founding members of the Spanish Society of Gene and Cell Therapy.