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Paediatric and Developmental Medicine
Coordinator: Montserrat Milá Recasens
We will now sum up the main activities and results connected with the objectives de ned in the Action
Plan 2017:
• Fostering the development of genomic diagnosis tools for the diseases of interest for the programme:
The main part of the transversal project for “Characterisation and contribution to genetic diagnosis of a cohort of patients with intellectual disabilities, autism and/or epilepsy” was carried out all through 2017 Three full research groups are taking part in this project (PIs: M Milá, L Pérez Jurado and P Lapunzina) from this PdI, along with a group from the Genetic Medicine Research Programme (PI: J Dopazo) and the four clinical groups connected with the Paediatric and Developmental Medicine Group (Group PIs: E Guillén, F Ramos, J Rosell and M I Tejada) Clinical information on over 200 cases has been compiled, now being in the phase for reinterpreting the genetic information available and of generation of new information via exomes and genomes
• Contributing to training of healthcare professionals and the general public
This PdI has arranged activities for this purpose such as the “40th Annual Meeting of the ECEMC and Refresher Course on Research into Congenital Defects” 19 to 21 October, the Informative Symposium on Giant Congenital Nevus: Beyond rarity, on 12 July, the Workshop in Bone Dysplasia from 4 May in La Paz, the CIBERER DNA Day 2017: Non-invasive Prenatal Diagnosis from 24 April, the II Scienti c Session for Parents and Professionals 11q (Jacobsen Syndrome) from 8 July or the Symposium on Dysmorphology for Clinical Doctors on 25 October
Apart from this there are many individual publications of the groups in this approach, described in fur- ther detail in the sections on each group
Sensorineural Pathology
Coordinator: Lluis Montoliu José
In 2017 the 7 groups forming the programme have obtained some major scienti c results, in dissem- ination and cooperation with patient’s associations, both independently, and in cooperation with other CIBERER groups
On the scienti c level we should stress the development of new cell and animal models of RD, above all oriented towards leadership in the preclinical research into sensorineural RD, as well as the develop- ment of genomic diagnosis tools and the discovery of new genes
On the cooperation level we should stress that practically all the groups in the programme have a pro- ject granted in the ACCI call for 2017
Special mention should be given to the fact that 6 groups in the programme have in 2017 jointly taken part in an intramural project: “Phenotyping and analysis of new animal and cell models of sensorineural diseases generated by means of CRISPR-Cas9 technology”, which consolidates the continuity of the in- tramural project previously granted and reinforces the strategic positioning and the collaboration work done between the groups
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