Ministerio de Ciencia e Innovación

Knowledge Application Programme

The translational research done by the CIBERER is intended to have the greatest social impact in the community of persons affected by these pathologies.

To this end tools are required to further the application of knowledge, either by incorporating the results of research in daily clinical practice in healthcare at National Health System centres or transfer of research results to the production sector for these to reach the market and be efficiently available for the persons affected.

Transfer to the production sector

Boosting the transfer of research results to the production sector in the field of RD is a basic objective identified by CIBERER. This drive is needed to continue with progress of the scientific activity done by its research groups, as well as for materialising the return on economic effort invested in research to society.

As a national and international benchmark in research and knowledge of RD, CIBERER works to intensify relations with the production sector directly and effectively.

Here at the CIBERER we are open to any possibility for cooperation with national or international companies for projects and agreements implying the application of the result of our research to the development of technical solutions and products with added value to have a final impact in the benefit and improvement of those affected by rare diseases by enhancing the quality of their lives.

For further information on our activities and cooperation opportunities with CIBERER

[email protected]

CIBERER puts to disposition his technological offer of patents capable of exploitation:

CIBERER pone a disposición su cartera tecnológica de patentes susceptibles de explotación:

Epidisease is the first Spin-off to emerge from the CIBER environment. This company provides services based on epigenetics to provide solutions to human diseases.

Through its scientific management team, CIBERER promotes collaboration and cooperation with other national and international public and private entities, for research to be turned into innovation for health and quality of life for those affected by rare diseases.

Affiliations and scientific collaborations



Translation activities are all those that enable application of the knowledge generated through research to clinical practice. This means that relations with the healthcare sector and specifically with the National Health System (SNS) are the key way to make the social return of research work effective. Our research groups, many of them forming part of the hospital and healthcare structure, have the main aim of developing knowledge applicable in the form of clinical solutions.

To accomplish this aim certain activities could be highlighted:

Activity 1

One of the CIBERER’s objectives is to transfer the results of research generated by its groups to the National Health Service. To achieve this goal the Scientific Director and the Management Committee promote links with Clinical Groups from Spanish reference hospitals to cooperate in different pathologies of interest for CIBERER.

The aim of these links is to undertake cooperative research measures in specific pathologies and contribute their expertise in clinical practice in order to promote translational research.

  1. CIBERER Linked Clinical Groups
  2. 1st  Call for Translational Research Projects on RD

Activity 2

CIBERER Clinical Guides are regularly included in the CIBERER Database, fostering their dissemination to the other CIBERER groups, to healthcare professionals and the general public.

In the field of clinical Practice Guides emphasis should be given to the work being done by the Work Group on Cancer in Polymalformative Genetic Syndromes (GT-CSGP) in which several CIBERER units take part and which is coordinated by Dr Víctor Martínez-González, from U753 of the CIBERER.

There are also many other guides and information material for patients, such as the Guide on Lowe Syndrome for families, published by the CIBERER and the Hospital Sant Joan de Déu. The medical  team of researchers led by Dr Mercedes Serrano- U703, drafted the first guide of this nature for Lowe Syndrome, also known as eyes-brain-kidney syndrome.

Activity 3

CIBERER boosts research projects in advanced therapies (gene therapy, cell therapy and tissue engineering), pre-clinical research projects and research into stem cell biology, especially iPS cells, in order to enable future developments of personalised cell therapy and regenerative medicine.

Orphan drugs in CIBERER:

  • “Lentiviral Vector containing the liver and erythroid kinase pyruvate gene (PKLR)" for treatment of kinase pyruvate deficiency. Dr. José Carlos Segovia-U710 from CIEMAT/IIS FJD – Promoted by CIBERER.
  • "Lentiviral vector containing the Fanconi Anemia A gene (FANCA)" for treatment of patients with Fanconi anaemia type A. Dr Juan Antonio Bueren - U710 from the CIEMAT - Promoted by CIBERER.
  • "Viral vector for treatment of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)" - Dr. Ramón Martí - U701 from the Vall d´Hebron Institut de Recerca (VHIR).
  • Designation of orphan drugs for bazedoxifene acetate, currently used in osteoporosis, for its use in hereditary haemorrhagic telangiectasia (HHT) - Dr. Carmelo Bernabeu - U707 from the Centro de Investigaciones Biológicas del CSIC.
  • Designation of orphan drugs for peptide GSE24.2 (Gestelmir), intended for treatment of dyskeratosis congenita. Dr Rosario Perona from the U757 of the Instituto de Investigaciones Biomédicas "Alberto Sols", CSIC.

Activity 4

  • National Health System Strategy on Rare Diseases.  Further information
  • Joint Action on Rare Diseases (RD ACTION):In 2014 CIBERER was designated by the MSSSI as a partner for the new Joint Action on Rare Diseases (RD ACTION) 2015-2017, providing continuity for the maintenance and coordination work of both  Orphanet-España and EUCERD Joint Action.

Actividad 5

Within the sphere of translational research one should stress the importance of registries in the field of rare diseases. The shortage of documented information on RD epidemiology clearly shows the need for roughly estimating the total number of people affected and the prevalence of each disease, as well as for evaluating the natural history of these pathologies in order to adapt measures in the healthcare area and to be able to carry out better follow-up of these.

This is why CIBERER works in starting up and maintaining different registries, such as:

  • Registry of Rare Diseases of the Instituto de Investigación de Enfermedades Raras (IIER-ISCIII), Dr Posada-U758.
  • Maintenance of the  Database for Fanconi Anaemia, Dr Surrallés-U745 and Dr Bueren-U710, (along with the Fundación CNIO and the CIEMAT).
  • E-IMD European registry and network for Intoxication type Metabolic Diseases. Dra. Ugarte-U746 , Dr. Artuch-U703, Dra. Ribes-U737 y Dr.Rubio-U739.
  • E-HOD European network and registry for homocystinurias and methylation defects (E-HOD). Dra. Couce-U737 , Dr. Artuch-U703, Dr. Grinberg-U720, Dra. Pérez-U746.
  • aHUS/C3G Registry: a Registry of patients of Atypical Uremic Haemolytic Syndrome and C3 Glomerulopathies. - Fundación Renal “Iñigo Álvarez de Toledo”, Dr Rodríguez de Córdoba-U738.
  • Spanish Registry of Neuromuscular Diseases - NMD-ES, of the Unit of Neuromuscular Diseases of the Hospital de la Santa Creu i Sant Pau. Dr Isabel Illa - U762