Page 23 - CIBERER2016-ENG

Paediatric and Developmental Medicine
Coordinator: Montserrat Milà
We will now sum up the main activities and results connected with the objectives defined in the Action Plan
2016:
• Furthering the development of genomic diagnosis tools for the diseases of interest in the programme:
The most outstanding point as regards transversal work was getting under way the transversal project: “Characterisation and contribution to genetic diagnosis in a cohort of patients with intellectual disability, autism and/or epilepsy”. Three full member groups took part in this project –U726 (Dr.
Milá), U735 (Dr. Jurado) and U753 (Dr. Lapunzina)– from this PdI, along with a group from the Genetic Medicine PdI (U715, Dr. Dopazo) and the four clinical groups associated with the Paediatric and Developmental Medicine Programme (GCV01, 02, 03 and 04). An online tool has been developed for collecting the clinical information on the cases and this compilation has started with over 70 cases included and intending to reach at least 200.
Apart from this there have been a large number of individual publications of the groups in this approach, described in greater detail when we go into the work done by each group.
• Developing tools for epidemiological research into rare diseases.
We should highlight the Registro Nacional de Enfermedades Raras of the Instituto de Salud Carlos III (ISCIII), which is coordinated and directed by Dr. Posada’s group (U758) and the work done by the ECEMC (Estudio Colaborativo Español de Malformaciones Congénitas) and that of the Telephone Information Services SITTE and SITE (both concerning risks for prenatal development), led by Dr. Bermejo (U724).
• Contributing to training healthcare professionals and the general public.
A Dysmorphology Session was held at the Hospital de la Paz (U753, Dr. Lapunzina) for doctors; a session on XGFRAIL premutation in the framework of the AEGH (GCV04 and U726, Dr. Milá); a session for patients and families affected by Williams Syndrome (U735, Dr. Jurado) and the Annual Meeting and Refresher Course on Congenital Defects, intended for doctors all over Spain (U724, Dr. Bermejo).
Sensorineural Pathology
Coordinator: Lluís Montoliu
In 2016 the 7 groups forming the Programme obtained some significant results in the scientific, dissemination fields and in cooperation with patients’ associations, both independently and in cooperation with other CIBERER groups.
On the scientific level we should underline the development of new cell and animal models of RD, intended above all for leadership in preclinical research into sensorineural RD, as well as the development of genomic diagnosis tools and the discovery of new genes.
As regards cooperation we could highlight the fact that at the ACCI call in 2016 all the groups in the programme have at least one project granted and 2 groups are even involved in 3 proposals.
Special mention should be given to the fact that 6 groups from the Programme are taking part in an intramural project: “Phenotyping and analysis of the new animal and cell models of sensorineural diseases generated
by means of CRISPR-Cas9 technology”, which consolidates the continuity of the intramural project previously granted and reinforces the strategic positioning and the cooperation found between the groups.
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Scientific Programmes 23