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Paediatric and Developmental Medicine
Scientific Programmes
We will now summarise the main activities and results in line with the objectives defined in the Action Plan 2015:
To foster the development of genomic diagno- sis tools for the diseases of interest in the pro- gramme:
• The identification of mutations in JMJD1C contributing to the development of Rett’s syn- drome, intellectual disability and/or autism. The units led by Dr Milà (U726) and Dr Pérez Jurado (U735) took part in this research.
• The characterisation of large structural genetic mosaicisms in human autosomes Am J Hum Genet. 2015 Mar 5; 96(3):487-97 and integrated studies of the full genome and transcriptome in diseases of the autism spectrum Mol Autism. 2015 Apr 15; 6:21 by U735, and the extensive study on the genetic causes of intellectual dis- ability carried out by Dr Tejada’s linked group Hum Mutat. 2015 Dec;36(12):1197-204.
• Molecular approaches for diagnosis of Beck- with-Wiedemann and Silver-Russell syndromes by Dr Lapunzina, U753, Eur J Hum Genet. 2015 Oct 28.
• The discovery of mutations in gene WDR35 causing a differentiated form of Ellis-van Crev- eld syndrome by groups U760 and U753. Hum Mol Genet. 2015 Jul 15;24(14):4126-37.
• The identification of TWIST2 gene as cause of Barber-Say and Ablepharon-Macrostomia syndromes, by groups U724 under Dr Martínez Frías.
To lead CIBERER research in innovative thera- pies, with special emphasis on gene and foetal therapy with the work of Dr Fillat (U716) on the development of new adenoviruses controlled by miRNA for the development of new gene thera- pies. Oncotarget. 2015 Mar 20; 6(8).
To further clinical research thanks to the close cooperation with national benchmark hospitals:
In order to foster cooperation with experts from all over the country and abroad, numerous special- ised workshops and conferences were arranged, such as the first Jornada Científica de la Aso- ciación 11q in Spain last 11th July and the first Jornadas del Síndrome de Beckwith-Wiedemann for relatives, persons affected and healthcare pro- fessionals, which took place at the Hospital La Paz. There was also an event for those affected by 22q11 and professionals, an encounter with relatives of those affected by 5p- syndrome, the 2nd International Conference of FMR1 premutation, and the spring and autumn dysmorphology con- ferences.
To develop tools for epidemiological research in rare diseases:
We should highlight the National Registry of Rare Diseases 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 Malfor- maciones Congénitas) and by the Servicios de In- formación Telefónica SITTE and SITE (both with regard to risks for prenatal development), led by Dr Martínez Frías (U724).
CIBERER I Annual report 2015 I 21