Researchers at the CIBERER presented his advances in diagnosis, therapy and transfer of research into rare diseases.

– la III scientific annual meeting of the Center for biomedical research in network of rare diseases (CIBERER) takes place next Thursday and Friday, 29 and 30 October, in San Lorenzo del Escorial.

-the groups of this institution, which brings together the research of excellence in rare diseases in Spain, presented its progress in numerous groups of diseases.

-rare diseases are rare pathologies, which together constitute a major public health problem, affecting about 3 million Spaniards and are mostly chronic and disabling.

Valencia, October 2009.- Three researchers internationally will open this (iii) annual meeting. Dr. Juan Marugán (leader of team at the NIH Chemical Genomics Center, Rockville, USA) will present important innovations in the area of rare diseases of the National Institutes of Health (NIH), the largest institution of biomedical research worldwide. A great platform for genetic characterization with the aim of developing new therapies has been promoted from the NIH.

The Professor Zoya Elpeleg (Hebrew University Medical Center, Jerusalem) will present its progress in the discovery of new genes responsible for congenital disorders of the respiratory chain mitochondrial and Dr. Hannie Kremer (Centre for Molecular Life Science, Netherlands) will explain its advances in the study of sensorineural deafness.

In this same event later, staff CIBERER of all the groups that are part of the institution presented some of their gains in the genetic and molecular characterization, genetic counseling, proposals for therapy to the Charter or therapies, clinical trials. The progress in research on rare diseases in good part thanks to the collaborative project between the different research groups and other programs promoted since the CIBERER will be explained. Investigated diseases include disease Gaucher, Usher syndrome, the blistering Epidermolysis, spinal muscular atrophy, retinitis pigmentosa, albinism, disorders of the autistic spectrum, Fanconi’s anemia or Lafora disease, among many others.

The CIBERER will also present examples of progress in the transposition into clinical practice and the transfer to the productive sector of the rare disease research. The development of Secugen SL, a spin-off of a research group that focuses on genetic sequencing and molecular characterization will address. Research will also be explained on the Hereditaria hemorrhagic Telangiectasia as an example of translational research carried out within the CIBERER, with the participation of a group of basic research, a referral hospital and the Association that brings together the sick.

On the CIBERER

The center of biomedical research on rare diseases network – CIBERER-whose main objective is to promote translational research (for the application in clinical practice for the benefit of the patient) on rare diseases in Spain, is a pioneer in Europe and has few references on the international scene as a model of Consortium institution. Promoted by the Ministry of science and innovation through the Instituto de Salud Carlos III, he joined 30 mainly public institutions but also of the private sphere which investigated about rare diseases, managing, coordinating efforts and generating synergies between 61 groups of research and more than 700 scientists and researchers. The research of the CIBERER groups are the basic unit of operation.

CIBERER acts as a vehicle between biomedical research, health services and patients and families, being therapeutic conferences the channel through which doctors and patients associations are informed about the progress of ongoing investigations.