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Registries in Rare Diseases”,and groups from the programme are participating in a further 5 groups.
The important work done by the groups in the Programme as regards Registries goes on: the Spanish Registry of Neuromuscular Diseases NMD-ES, Registry of Mitochondrial Diseases (in cooperation with AEPMI- Asociación de Enfermos de Patologías Mitocondriales and the Fundación Ana Carolina Díaz Mahou) and the McArdle Registry (EUROMAC).
In the field of transfer we should underline the fact that the EpiDisease spin-off, led by José Luis García, a researcher from Federico Pallardó’s group, has been considered as Best Bio Initiative
Paediatric and Developmental Medicine
Coordinator:
Montserrat Milá Recasens
Fostering the development of genomic diagnosis tools for the diseases of interest for the programme:
in Health by the BIOVAL Cluster. As well as this the HistShock project for a prognostic kit for sepsis and septic shock, also led by José Luis García, has been selected in the CaixaImpulse programme.
We should furthermore mention the fact that Francesc Palau has been appointed Chief Editor of the Orphanet Journal of Rare Diseases, the official journal of Orphanet, which is the benchmark European portal in rare diseases and orphan drugs, and that several CIBERER researchers (Francesc Cardellach, Joan-Lluís Vives Corrons and Rafael Artuch) are taking part on the editorial board of this journal.
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The transversal project for “Characterisation and contribution to genetic diagnosis of a cohort of patients with intellectual disabilities, autism and/or epilepsy” was completed in 2018. Three full research groups took part in this project (PIs: Susana Puig, Luis Pérez and Pablo Lapunzina) from this PdI, along with a group from the Genetic Medicine Research Programme (PI: Joaquin Dopazo) and the four clinical groups linked with the Paediatric
and Developmental Medicine Group (Group PIs: Encarna. Guillén, Feliciano J. Ramos, Jordi Rosell and Maria Isabel Tejada). This project enabled developing a computer tool for registering clinical cases accessible via:
Contributing to training of healthcare professionals and the general public.
The Course on Personalised Genomic Medicine was held on 5, 6 and 7 November 2018 at Campus del Mar - Universitat Pompeu Fabra, with the attendance of over 60 healthcare professionals and researchers. We should also mention different hospital sessions arranged under the auspices of this PdI.
The training for patients was given in the setting of the second EURORDIS Summer School in Spanish, held at Castelldefels Barcelona from 11 to 15 June, with training on the diagnostic process on a dissemination level.
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http://ges.cipf.es/enod/login.aspx. In fact, this project has meant that we already have this tool available as a means to compile cases from the Programme for Undiagnosed Rare Diseases (ENoD) and this is available for other projects to be able to benefit from it in its utility for collecting, keeping and discussing clinical information on line.
Apart from this there are a large number of individual publications of the groups in this line, described in greater detail when each group is discussed.
CIBERER | ANNUAL REPORT 2018