Data update as of 31/12/2023

CIBER

It is worth highlighting the participation and commitment of the IIS-FJD with different thematic areas of the CIBER cooperative research structures in which it collaborates through different Nodes or units within the Consortium, such as:


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RICORS

The IIS-FJD provides all its support and infrastructures to different Cooperative Research Networks Oriented to Health Results, in which the scientific personnel participates, such as:


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In addition, IIS-FJD researchers participate in other collaborative initiatives, such as:


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NATIONAL PLATFORMS (ISCIII)

  • Biobancos. Red de Biobancos en los Hospitales del Sistema Nacional de Salud PT20/00141. IP: Dr. Federico Rojo Todo


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  • Unidades de Investigación Clínica y Ensayos Clínicos PT20/00142 IP: Lucía Llanos Jiménez

    SCReN (Spanish Clinical Research Network)

SCRENSCREN



INTERNATIONAL CONSORTIA AND PLATFORMSS

Además de ello, el IIS-FJD participa en las siguientes plataformas internacionales: EATRIS, ECRIN e EASI Genomics.

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RAREGenomics (Rare Diseases Research Network)

RareGenomics consists of six groups: RARE.EYE-FJD, RARE.EAR-HRyC, RARE.ID-INGEMM_HULP, RARE.MED-UAM, RARE.META-CBM, and RARE.MITO-I+12; with extensive experience in translational research in RD, belonging to CIBERER and integrated into Health Research Institutes, as well as two companies (GEnycell and GSK) and FEDER. More information at http://rare-genomics.com/This link opens in a popup window

  1. RARE.EYE-FJD (LR: Dr. Carmen Ayuso, Department of Genetics and Genomics).
  2. RARE.EAR-HRyC (LR: Dr. Miguel Ángel Moreno Pelayo, Genetics Service).
  3. RARE.ID-INGEMM_HULP (LR: Dr. María Palomares Bralo, INGEMM).
  4. RARE.MED-UAM (LR: Dr. Rafaél Garesse, School of Medicine).
  5. RARE.META-CBM (LR: Dr. Belén Pérez, Department of Molecular Biology).
  6. RARE.MITO-I+12 (LR: Dr. Miguel Ángel Martín Casanueva, Biochemistry/Clinical Analysis Service).



Our project

Rare diseases (RD) are defined as those that affect <1 in 2000 people and also have a risk of death or chronic disability. There are about 6,000 different RD and about 3 million Spaniards are affected.


Purpose

Our main goal is to implement a comprehensive study platform: clinical, epidemiological, genomic, diagnostic and therapeutic, for neurological RD (Intellectual Disability, hereditary metabolic diseases, mitochondrial diseases, oculo-genetic diseases, and sensorineural hearing loss [SNHL]), in order to raise awareness and increase their translation to the National Health System in the Community of Madrid


Scientific programme structured in 5 objectives

    1. Study of the genetic epidemiology and molecular basis of RD.
    2. Map of diagnostic resources and clinical epidemiology. Undiagnosed RD Programme (ERnoD).
    3. Pathophysiopathocellular characterisation of new variants/genes.
    4. Therapeutic approaches.
    5. Translation of Genomic Medicine in RD. Algorithm for ERN comprehensive study.

And 2 transversal programmes for:

    1. Talent Promotion.
    2. Dissemination and transversal coordination: web portal for dissemination (scientists, patients, society).

Expected result

    1. Advance knowledge.
    2. Collaboration with patient associations and companies.
    3. Scientific innovation of the C of M.
    4. Training and employability.
    5. Increase translation to the health system in RD.



(LYMPHOMAS-CM) AGGRESSIVE LYMPHOMAS, INTEGRATED CLINICAL AND GENOMIC ANALYSIS FOR PRECISION MEDICINE.


Participating groups:


  • Coordinador: Piris , Miguel Ángel. IISFJD - Fundación Instituto de Investigación Sanitaria
  • IP: Fernández Piqueras, José. CBM/CSIC/UAM - Universidad Autónoma de Madrid / Centro de Biología Molecular
  • IP: Roncador , Giovanna. CNIO – Centro Nacional de Investigaciones Oncológicas / Lab. Anticuerpos Monoclonales
  • IP: AlShahrour Núñez, Fátima. CNIO - Centro Nacional de Investigaciones Oncológicas / U.Bioinformática
  • IP: Sánchez Beato, Margarita - Sanchez Ruiz, Antonio. IDIPHIM - Fundación Para la Investigación Biomédica del Hospital Puerta de Hierro
  • IP: García, Juan Fernando. MD ANDERSON - Fundación MD Anderson International

The project aims to analyse the interaction between accumulated molecular alterations and changes in the tumour stroma in order to create the basis for the effective clinical application of personalised medicine in lymphoid neoplasms. This objective is to be achieved through three specific objectives:

    1. Development of bioinformatics tools, cell subpopulation detection tools, and experimental models for the analysis of clonal dynamics of lymphomas
    2. Analysis of the dynamics of subclonal heterogeneity in diagnosis and progression, and development of resistance and recurrence: identification of new biomarkers of prognostic utility in the context of precision medicine
    3. Stromal analysis: in-depth study of how cell subpopulations regulate the microenvironment necessary for tumour development, progression and response to therapy