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Bio
I have a degree in Biology (University of Granada), a PhD in Biological Sciences (University of Navarra) and an official title of specialist in Immunology (University Clinic of Navarra) .In this period (1991-1995), in addition to the activity for the competencies of a hospital immunology service, my research studies focused on the functionality of human NK and monocytes cells (Casado JA, J Immunol Methods 1993, Casado JA Immunology. 1994). From 1996 to 1999 I worked at CIEMAT as a Senior Research Fellow in the project: Study of the carcinogenic mechanisms involved in the development of irreversible hematological abnormalities after exposure to low doses of ionizing radiation. In 1999 I joined the Hematopoiesis and Gene Therapy group led by Dr. Juan A. Bueren until today. In Juan Bueren's group, my main research work has focused on Fanconi Anemia (FA). Initially, I investigated the complementation groups of Spanish Fanconi anemia patients from Spain using retroviral vectors. This work showed for the first time the prevalence of each complementation groups and the high prevalence of the FA-A group in our environment (Casado JA, J. Med. Genetics 2007). Complementation studies in FA patients contributed to the implementation of the nationwide patient database in which I actively participated. The availability of the database has made available samples of FA patients for different studies. Examples of these investigations are the studies that have demonstrated the high incidence of the disease in the Spanish gypsy with the presence of a founder mutation in the FANCA gene (Callen E, Blood 2005), as well as the type of mutations in the rest of the Spanish population (Castella M, J Med Genet 2001). The screening of a sufficient number of samples allowed to find among the Spanish patients a new FA gene that was named FANCQ (Bogliolo M, Am J Hum Genet. 2013). The study of complementation groups and genetic subtyping has been instrumental in choosing patients with mutations in the FANCA gene who can benefit from the gene therapy clinical trials developed at our center (Rio P, Nat Med 2019). Regarding the DNA repair mechanisms involved in FA cells, we reported a defect in pathway of NHEJ in FA HSPCs (Casado JA, Radiat Res. 2005) and the relevance of the FA/BRCA pathway in the action of the antitumoral drug trabectedin (Casado JA, Mol Cancer Ther. 2008). We have also discovered how an antitumor mechanism involving NKG2D ligands contributes to BMF in FA patients (Casado JA, JCI 2022). O
One of my current research projects is related with the elimination of tumors by new drugs (Segovia C, Nat Med 2019) and more specifically in HNSCC in AF patients (Montanuy H, Clin Cancer Res 2020). Since this type of tumor is especially relevant in FA patients and which is very difficult to treat, I am also involved in the development of a CAR T immunotherapy as an alternativy specifically for these tumors in AF patients.
Research Interests
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