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Projects. Life and Matter Sciences

Precision medicine in Primary Immunodeficiencies: deciphering new genetic etiologies by means of "omic" approaches

Lead Researcher:
Rebeca Pérez de Diego

Research Centre:
IdiPAZ, Instituto de Investigación Sanitaria del Hospital Universitario La Paz. Madrid.


Rebeca Pérez de DiegoAccording to the WHO, infectious diseases cause the highest death rate among children and young adults. Although primary immunodeficiencies (PIDs) have traditionally been defined as rare diseases caused by immune system defects, the suspicion now is that a high percentage of patients with serious infections in infancy have innate Mendelian defects in their immune system. The appearance every day of new genetic defects involved in the susceptibility to contract infections or ones involved in the working of the immune system make it necessary to reconsider the concept and relevance of study of the PIDs. The treatment and medical follow-up of these patients, the number of which is increasing continuously, is very expensive, while their quality of life is restricted. On the other hand, there is increasing evidence that shows there are differences between the human and murine immune systems; this is why PIDs are fundamental as regards understanding human immunology. It is now relatively simple to diagnose genes which are known to cause PIDs. The challenge now in the study of PIDs is to find new genetic causes. To this end, the "omic" era is an essential tool. The aim of this project is to find new genetic etiologies associated with patients with PIDs by using massive sequencing techniques; these studies will be followed by exhaustive cellular and molecular characterisation of the responsible gene and its role in the immune system. This project lies within the context of precision medicine aimed at accelerating the genetic diagnosis of the PID, thereby offering genetic advice to families and improving the treatment of PID patients, to define the best therapeutic options.

Rebeca Pérez de Diego

Dr. Pérez de Diego has studied Primary Immunodeficiencies (PID) for the last 12 years. From her doctoral thesis, which was awarded special honours, and in her several predoctoral and postdoctoral visits, the scientific discoveries of Dr. Pérez de Diego have been highly significant, reflecting the great potential of this researcher, who is only 36 years old. She has worked in the Laboratory of Immunogenetics, Autoimmunity and Functional Genomics Section, National Institutes of Health (NIH, USA), the Centro Nacional de Investigaciones Oncológicas (CNIO, Madrid, Spain), in the Laboratory of Human Genetics of Infectious Diseases, Necker-Enfants Malades Medical School (Paris, France), the Molecular Cell Dynamics Group, University College of London (London, UK) and in the St Giles Laboratory of Human Genetics of Infectious Diseases of Rockefeller University (New York, USA). She is currently under contract to the Ramón y Cajal program of the MEC in the Instituto de Investigación Sanitaria del Hospital La Paz-IdiPAZ. She has published 18 scientific papers, mostly in high impact journals, and more than 30 presentations in congresses and seminars. She is currently the director of the Laboratorio de Inmunogenética de las Enfermedades in the IdiPAZ institute.

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