Page 113 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
camPistol Jm., arias m., ariceta g., Blasco m., esPino- sa l., esPinosa m., grinYó Jm., macía m., mendiZáBal s., Praga m., román e., torra r., Valdés F., Vilalta r. and rodrígueZ de córdoBa s. An update for atypical haemo- lytic uraemic syndrome: diagnosis and treatment. A con- sensus document (Actualización en síndrome hemolítico urémico atípico: diagnóstico y tratamiento. Documento de consenso) Nefrología. 35:421-447 (2015).
recalde s., tortaJada a., suBias m., anter J., Blasco m.,
martíneZ-Barricarte r., heurich m., lóPeZ-Per- rote a., tortaJada a., Pinto s., lóPeZ-trascasa m., sáncheZ-corral P., morgan BP., llorca o., harris cl. and rodrígueZ de córdoBa s. The molecular and struc- tural bases for the association of complement C3 muta- tions with atypical hemolytic uremic syndrome. Mol. Im- munol. 66:263-273 (2015).
Valoti e.*, alBerti m.*, tortaJada a.*, garcía-Fernán- deZ Jm., gastoldi s., Besso l., Bresin e., remuZZi g.,
maranta r., coco r., Pinto s., noris m., garcía-laYana a. and rodrígueZ de córdoBa s. Molecular basis of Factor H R1210C association with ocular and renal diseases. J. Am. Soc. Nephrol. doi: 10.1681/ASN.2015050580 (2015).
JóZsi m., tortaJada a., uZonYi B., goicoechea de Jorge e. and rodrígueZ de córdoBa s. Factor H-related pro- teins determine complement-activating surfaces. Trends Immunol 36:374-384 (2015).
Highlights
Our research and translational activity focus in the study of rare diseases associated with complement dysregulation like atypical Hemolytic Uremic Syn- drome (aHUS), C3-glomerulopathy (C3G) or Par- oxysmal Nocturnal hemoglobinuria (PNH). During 2015 we have contributed further to understand their pathogenic mechanisms through the func- tional characterization of pathogenic genetic vari- ants and the development of animal. We have also contributed to educational programs generating reviews and consensus reports where we have em- phasized our views regarding molecular diagnostics in this area, highlighted the important contribution that complement dysregulation plays in these dis- eases and how the improved knowledge of rare dis- eases have also important consequences in preva- lent diseases like Age-related Macular Degeneration and IgA Nephropathy. During 2015 our laboratory lectured several educational talks or seminars to different clinical groups (national and internation- al), where we emphasized the important advances in the complement field and the usefulness of this knowledge in the clinical practice. During 2015 we
rodrígueZ de córdoBa s. and noris m. A novel atypical Hemolytic Uremic Syndrome – associated hybrid CFHR1/ CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation. J Am Soc Nephrol 26:209-219 (2015) (* Equally contributed as first Author).
have continue developing diagnostics strategies, in- cluding new methods for the detection of CNVs and new NGS platforms for the screening of the comple- ment genes.
Also, we began new research projects to evaluate biological markers associated with the progression of the disease and to develop complement inhibitors with therapeutic interest having as target the C5a molecule. Our group is an international reference in the physiopathology of the complement system and a very important asset for the Spanish’s health public system. We develop a very strong translation- al activity in different medical specialties like neph- rology, ophthalmology and hematology, providing to many patients (more than 120 during 2015) with a genetic and molecular analysis of the complement system and specific suggestions related to their treatments. Also of strategic interest is the registry of patients with renal pathology that we have devel- oped with the supervision and support of CIBERER.
Institution: Agencia Estatal Consejo Superior de Investigaciones Científicas
Contact: Centro de Invest.Biológicas. Ramiro de Maeztu, 9. 28040 Madrid · Tel.: 91 837 31 12 x4432/3 E.mail: [email protected] · Website: http://www.cib.csic.es/es/grupo.php?idgrupo=21
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