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Paloma Ropero Gradilla

Paloma Ropero Gradilla Paloma Ropero Gradilla,
Researcher,
Instituto De investigación Sanitaria San Carlos
Spain
Biography

My professional career began in 1991 in the faculty of Pharmacy at the University of Alcalá de Henares with the development of the work "Characteristics and metabolic properties of erythrocytes modified by bifunctional reagents" in order to obtain GRADE OF LICENSED in Pharmacy by the Complutense University of Madrid the same year. In 1992, thanks to an ERASMUS scholarship, I was in the Department of Biochemistry at Trinity College, University of Dublin, under the supervision of Professor K.F. Tipton. In 1993 I joined the Hematology and Hemotherapy service of the San Carlos Clinical Hospital in Madrid, and I was awarded a predoctoral fellowship from the Complutense University of Madrid (1993-1997) to carry out the work that would culminate with the defense, in the February 1998, from my Doctoral Thesis "Molecular heterogeneity of β-thalassemia in Spain", with the qualification of Apto "Cum Laude" for Unanimity. During this time, March 1997, I made a stay at the prestigious Laboratory of Molecular Genetics del Ospedale Regionale per le Microcitemie Cattedra di Clinica Pediatrica II, Universitá Degli Studi di Cagliari. Instituto di Clinica e Biologia dell'Etá Evolutiva whose directors were Professor Antonio Cao and Professor Renzo Galanello. The result of these years has been numerous manuscripts published in national and international journals, all related hemolytic anemias specifically with thalassemia syndromes and structural hemoglobinopathies. It is worth mentioning the work “F.A González, P. Ropero, J. Sánchez, C. Rosatelli, R. Galanello, A. Villegas. CT mutation at –158 Gγ HPFH associated with 4 bp deletion (-225-222) in the promoter region of the Aγ gene in homozygous β0 39 nonsense thalassaemia. Haematologica 1999; 84: 106-107”since, at that time, it was necessary to highlight the reason why patients presenting the same genotype (homozygous for a mutation in the β globin gene) could show different phenotype, from a thalassemia major (more severe form of the disease) to a intermediate thalassemia. All this thanks to the discovery of mutations in other genes that modulate the production of Fetal Hb (Hb F) increasing the synthesis of it and improving the clinical. This work was a point of support to then begin with the study of other genes in the β globin loci as genetic modulators in the levels of Hb F. This new line of research has been supported and funded by both the Madrid Association of Hematology and Hemotherapy as per the Carlos III Health Institute (Ministry of Economy and Competitiveness) with two projects. My team and I have collaborated with Doctors without Borders to carry out a study on the incidence of sickle cell anemia in Equatorial Guinea. Thanks to this work it was possible to establish, not only the incidence of the disease but also to know the frequency of carriers and their distribution and to raise awareness of the need to create specific centers of sickle cell anemia where neonatal screening, diagnosis, information is carried out and education, both carriers and patients, as well as establishing clinical and preventive care. Together with my research team we have identified a total of 22 new mutations in both thalassemias and structural hemoglobinopathies, which has resulted in a total of 19 publications. Some of these mutations have been identified thanks to the collaboration that exists with the professionals who carry out the quantification of the glycated hemoglobin for the long-term monitoring of glucose control in patients with diabetes mellitus. Since the presence of a variant of hemoglobin can interfere in the quantification of glycated hemoglobin, in these cases there is a discrepancy with the rest of the analytical and clinical data, other analyzes being necessary to clarify the imprecision of the results. In this sense, a total of 8 articles have been published, three of them correspond with new variants in the literature (Hb Sevilla, Hb Jerez and HbValme). Due to these interferences, Hb Sevilla and Hb Jerez have been patented. Hb Sevilla in 2010 and Hb Jerez in 2012. Another publication that has helped to clarify what until 2013 was thought to be a mutation is “P. Ropero, F.A. González, E. Cela, C. Beléndez, A. Cervera, J. Martínez-Nieto, F. de la Fuente-Gonzalo, L. Vinuesa, A. Villegas, J. Díaz-Mediavilla. Association in cis of the mutations +20 (C>T) in the 5 'UTR region and IVS-2-nt745(C>G) in the  gene. Hemoglobin 2013; 37(2). 112-118”. With this work it has been shown that what was thought was a mutation (+20 C> T) is only a polymorphism, helping to make the diagnosis accurate and there is no confusion, thus avoiding possible cases of thalassemia major (more serious form of the disease). Continuing with this philosophy of offering an accurate diagnosis and in response to the request for genetic counseling, the publication with the greatest transcendence is the “Identification of a novel mutation in the β-globin gene 3’ UTR (HBB:c.*+118A>G) in Spain. Hemoglobin 2015; 39(1): 30-5. Herrera M.A, de la Fuente-Gonzalo F, González FA, Nieto JM, Blum Domínguez A, Villegas A, Ropero P“ since a mutation was found in the 3 'UTR region of the β globin gene that did not modify the hematological indexes, going unnoticed and that when associated with a clearly thalassemic mutation (β + or β0), an intermediate thalassemia of poor evolution was produced and in in a second case, the severe form of the disease (thalassemia major) was observed. Therefore, before a possible genetic advice is necessary to sequence the entire gene to identify this type of mutations and avoid thalassemias of poor prognosis. All this experience has allowed us to be the only center where the prenatal diagnosis of these pathologies is made. We have also been selected as an external laboratory in the CSUR of the Hereditary Erythropathology Unit. By all things considered, I have published almost 100 articles (both in national and international journals), I have sent more than 220 communications to congresses (national and international) and on 7 occasions I have contributed to the writing books and monographs. I have given 11 lectures in the "Avances en Hematología" continuing education courses organized, since 1998 and until 2000 by Professors D. Espinós and A.Villegas and from 2001 to the present by Prof. A. Villegas and Dr. FA González all of them related to the molecular diagnosis of thalassemias and structural hemoglobinopathies. In 2010 and 2011 I have been a lecturer at the talk of Study of Hemoglobinopathies and Thalassemic Syndromes in the course of Basic Techniques of laboratory personnel in the Hematology Service. Cytomorphological diagnosis. Organized by the Madrid Association of Hematology and Hemotherapy. From 2011 forward, I have been giving several talks at the Master's Degree in Immunology Research with the talk Hemoglobinopathies, organized by the chair of Immunology of the Faculty of Medicine of the Complutense University of Madrid. Currently, from 2013, I give talks about Haemoglobinopathies and Thalassemic Syndromes in the Master of Medicine at the Complutense University of Madrid.

Research Interest

My research is focused on hemolytic anemia, mainly in hemoglobins, both structural and thalassemias. I work in a reference center at a national level and I am responsible for the Lab. of erythropathology at the San Carlos Clinical Hospital in Madrid

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