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Projects. Life and Matter Sciences

The complete sequencing of the exomic genome of systemic lupus erythematosus in families of European origin with multiple cases: the identification of rare mutations and their functional consequences

Lead Researcher:
Marta Eugenia Alarcón Riquelme

Research Centre:
Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica (GENYO). Granada.


Marta Alarcón RiquelmeAmong autoimmune diseases, systemic lupus erythematosus represents the genetic prototype. It is well known that, of all these diseases, this is the one in which genetic factors play the most important role. Genetic studies have demonstrated a high degree of allelic heterogeneity, and it is very likely that what seems to be a disease is actually a syndrome covering a range of diseases cause by different genetic defects. This project uses massive sequencing methodology to identify rare mutations in individuals belonging to families of European origin with lupus, in which at least two patients are related in the first, second or third degree. Once the mutations have been identified, the effects they may have on the expression and function of the affected protein will be clarified. A mutation in the BLK susceptibility gene was identified in a preliminary study. The change of amino acid leads to greater degradation of the BLK protein. Moreover, the mutation is located in the SH3 domain of the protein, which is important for its binding to other interacting proteins. The results of this project will have important consequences for the understanding of the aetiology and pathogenesis of this disease and may help to elucidate the differences between patients, bringing us ever closer to possibilities of personalised medicine.


Scientific production
1 paper at international conferences

Researcher's web address:

Marta Eugenia Alarcón Riquelme

Dr. Marta Eugenia Alarcón Riquelme studied for her Doctorate in Immunology in Stockholm University, Sweden (1994). She then undertook her post-doctorate training in the Genetic and Pathology Department of Uppsala University, where she won several prizes and awards. She became a Professor of the said University (2009), since when she has switched to leading study in the area of Human DNA Variability at the Pfizer-University of Granada-Andalusian Regional Government Centre for Genomics and Cancer Research (GENYO), in Granada. Dr. Alarcón Riquelme has published more than 130 original papers in major journals (Nature, Genetics), such as the identification of the PDCD1 and BANK1 genes as ones giving rise to susceptibility to systemic lupus erythematosus, as well as mechanisms by which risk variants alter genetic expression. She has received financing from European, US and Swedish funds, as well as the King Charles III Health Institute, the latter being co-financed with ERDF funds from the European Union. She is a member of the SLEGEN International Consortium of lupus genetics and is co-ordinator of the BIOLUPUS network, financed by the Alliance for Lupus Research and the European Science Foundation, respectively. Her research group is dedicated to the study of systemic lupus erythematosus, with the aim of reaching an understanding of the mechanisms by which susceptibility genes eventually cause genetic and cellular damage. Dr. Alarcón Riquelme works in multi-centre studies at an international level.

*All intellectual property rights belong to the author. Reproduction of all or part of the work without permission from the author is prohibited. © RAMÓN ARECES FOUNDATION. All rights reserved. 

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