Page 84 - MemoriaCIBER2019-ENG

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CIBER Annual report 2019
of this project, they participated in the 5th International Meeting on Lafora disease, held from 9 to 11 September in Alcalá de Henares.
At the international level, we highlight the presence of Josep Dalmau on the list of the most cited scientists in the world in 2019 published by Clarivate Analytics, a former branch of the Thomson Reuters agency dedicated to inte- llectual property and science.
At the clinical level, the high level of activity of the groups led by Eduard Gallardo and Teresa Sevilla stands out. Their units belong to both the Centres, Services and Reference Units (CSUR) of the Spanish National Health System (SNS) and the European Reference Networks (ERN) of the European Union, being benchmarks in their field at the national and international level.
Also worth mentioning is the important activity of the groups of the Programme regarding Registries: Spanish Registry of Neuromuscular Diseases NMD-ES, Registry of Mitochondrial Diseases (in collaboration with AEPMI Asso- ciation of Patients with Mitochondrial Pathologies and the Ana Carolina Díaz Mahou Foundation) and the McArdle Registry (EUROMAC).
In the area of transfer, it should be noted that the EpiDisease spin-off, led by José Luis García, researcher of Federico Pallardó’s group, has been awarded the First Prize for Innovation at Eureka IIEC, an event promoted by innovation organisations and service providers between Australia and China.
This Research Programme stands out for its great rapport with patient associations, specifically with the Spanish Federation of Neuromuscular Diseases (ASEM Federation), with whom an agreement was signed in 2019. In addi- tion, CIBERER was awarded the 2019 ASEM Prize, in recognition of its commitment to neuromuscular diseases.
Paediatric and Developmental Medicine Programme
Coordinator: Cristina Fillat i Fonts
The main activities and results linked to the objectives defined in the 2019 Action Plan are summarized below.
Within the objective of promoting the development of genomic diagnostic tools for the diseases focussed on in the Programme:
• A study has been led that has identified genetic alterations involved in the development of large and giant congenital nevi based on data from the first series of Spanish patients characterizsed by massive sequencing and RNA-seq from the group coordinated by Susana Puig.
• A common genetic signature has been identified in three rare skin diseases prone to cancer from the group led by Marcela del Río in collaboration with the group of Joaquín Dopazo of the PoI of Gene- tic Medicine, which will make it possible, in the near future, to design effective and safe therapeutic approaches based on robust scientific evidence through a global analysis of gene expression.
• Genetic mutations in the muscle-specific exon of the FXR1 gene that cause a new congenital myopathy have been identified in an international study led by groups coordinated by Víctor Luis Ruiz-Pérez and Pablo Lapunzina.
• The genetic mutation causing lymphangiomatosis has been discovered, which opens the way for possi- ble pharmacological treatments from the group led by Pablo Lapunzina and in which researchers from the group coordinated by Carmen Ayuso of the Sensorineural Pathology Research Programme have participated.