Group Leader/s

 

intro

Our laboratory uses genomics and molecular biology techniques to carry out research in Human Genetics. Overall, there is a strong -long standing- interest in Complement genetics. Since 1983, our laboratory has been involved in the study of the genetics and function of the proteins that regulate the complement system. We described in 1986 the human "Regulators of Complement Activation" (RCA) gene cluster in chromosome 1q32 and subsequently provided most of our current understanding of the genomic organization of this region of the human genome. Recent work in this area has focussed on the study of the role of RCA proteins in susceptibility to renal and ocular disorders.

Additional contributions of our laboratory to the field of Human Genetics include: The cloning of the gene responsible for alkaptonuria (AKU) and the complete characterization of the molecular, structural and epidemiological basis of this disease; The cloning of the human homeobox gene SIX6 as a gene responsible for anophtalmia and pituitary anomalies; The cloning of the genes MCCA and MCCB responsible for the 3-methylcrotonyglycinuria; and the molecular cloning of one of the genes responsible for the lethal progressive myoclonous epilepsy called Lafora´s disease.

Over the last few years the study of the molecular bases of Lafora’s disease has been one of our major areas of research activity. In addition, we are interested in DNA sequencing and its applications in genomic and genetic research. In collaboration with Secugen SL, a biotechnological company interested in DNA sequencing and molecular diagnostic, we have developed approaches to characterize the human mitochondrial genome and to perform the molecular diagnosis of various human diseases.

 

Corvillo F., Bravo García-Morato M., Nozal P., Garrido S., Tortajada A., Rodríguez de Córdoba S. and López-Trascasa M.  [2016]. Serum properdin consumption as a biomarker of C5 convertase dysregulation in C3 glomerulopathy. Clin. Exp. Immunol. 184:118-125

Rodríguez de Córdoba S.  [2016]. Complement genetics and susceptibility to inflammatory disease. Lessons from genotype-phenotype correlations. Immunobiology. 221:709-714

Olivar R., Luque A., Cárdenas-Brito S., Naranjo-Gómez M., Blom AM., Borrás F., Rodríguez de Córdoba S., Zipfel P. and Aran JM.  [2016]. The Complement Inhibitor Factor H Generates an Anti-inflammatory and Tolerogenic State in Monocyte-Derived Dendritic Cells. J. Immunol. 196:4274-4290

 

Funding

PROYECTOS VIGENTES:

Plataforma integrada para el diagnóstico molecular de enfermedades  relacionadas con el sistema del complemento. PIDMECOMP (Ref. RTC-2016-4635-1)
MINECO/FEDER, Programa RETOS-COLABORACION
04/03/2016 - 31/12/2018
Convocatoria cofinanciada por la Unión Europea, Fondo Europeo de Desarrollo Regional (FEDER)

Descifrando las bases moleculares de las enfermedades relacionadas con desregulación del complemento y aprendiendo como tratarlas (Ref. SAF2015-66287-R)
MINECO/FEDER, Programa RETOS
01/01/2016 - 31/12/2019
Convocatoria cofinanciada por el Fondo Europeo de Desarrollo Regional (FEDER)

Mecanismos patogénicos en enfermedades raras y comunes asociadas con desregulación del complemento (Ref. ER16P1AC738)
CIBERER, ACCI2015
01/01/2016 - 31/03/2017

EURenOmics - European Consortium for High-Throughput Research in Rare Kidney Diseases (Ref. 305608 / Acronym: EURenOmics)
FP7-HEALTH-2012-INNOVATION-1, COLABORATIVE PROJECT
01/10/2012 - 30/09/2017

 

PROYECTOS PASADOS:

Complemento y Enfermedad (Ref. SAF-2011-26583)
MINECO
01/01/2012 - 31/12/2015

Biología y fisiopatología del sistema del complemento (Ref. S2010/BMD-2316)
CAM, Convocatoria BIOMEDICINA
01/01/2012 - 31/12/2015
Convocatoria cofinanciada por el Fondo Social Europeo y del Fondo Europeo de Desarrollo Regional (FEDER)

 

 

 

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