Group Leader/s



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.




El Sistema del Complemento en Salud y Enfermedad. (Ref. B2017/BMD-3673 - Acrónimo: COMPLEMENTO II-CM)
Ayudas para la realización de Programas de Actividades de I+D entre Grupos de Investigación de la Comunidad de Madrid en Biomedicina.
01/01/2018 - 31/12/2021
Convocatoria cofinanciada por el Fondo Social Europeo y el Fondo Europeo de Desarrollo Regional, 2014-2020, de la Comunidad de Madrid.

Desarrollo de un Centro de Referencia para patologías raras asociadas a desregulación del sistema del complemento.
Fundación Inocente Inocente
01/01/2018 - 31/12/2018

Complemento en Salud y Enfermedad (Ref. SAF2016-81876-REDT)
Agencia Estatal de Investigación (AEI), Programa REDES DE EXCELENCIA
01/07/2017 - 30/06/2019

Plataforma integrada para el diagnóstico molecular de enfermedades  relacionadas con el sistema del complemento. PIDMECOMP (Ref. RTC-2016-4635-1)
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)
01/01/2016 - 31/12/2019
Convocatoria cofinanciada por el Fondo Europeo de Desarrollo Regional (FEDER)



EURenOmics - European Consortium for High-Throughput Research in Rare Kidney Diseases (Ref. 305608 / Acronym: EURenOmics)
01/10/2012 - 30/09/2017

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

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

Biología y fisiopatología del sistema del complemento (Ref. S2010/BMD-2316)
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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