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Research Groups
Group U758
Programme: Paediatric and Developmental Medicine Lead Researcher: Posada de La Paz, Manuel
Group members
STAFF MEMBERS: Monzón Fernández, Sara.
ASSOCIATED MEMBERS: Abaitua Borda, Ignacio | Alonso Ferreira, Verónica | Hens Pérez, Manuel | Morales
Piga, Antonio | Villaverde Hueso, Ana.
Main lines of research
• Epidemiology and risk factors in autism: Ear- ly diagnosis (screening); case-cohort studies; case-control studies.
• Epidemiology and risk factors in connective tissue diseases and autoimmune diseases: Risk factor analysis; search for drugs; quality of life; registry; costs.
• General epidemiology of rare diseases: Rare dis- ease registry; health costs; quality of life.
• NationalRareDiseaseRegistry(SpainRDR).
• Undiagnosedrarediseasesprogram
• NationalRareDiseaseBiobank(BioNER).
• National germ line mutations database (Spain- MDB).
• Developmentofcomputerworkflowsfortheanal- ysis and interpretation of data generated by mas- sive sequencing.
• Identification of microRNAs involved in regulat- ing genes causing rare diseases by means of high-throughput assays with microRNA libraries.
• Geneticsofretinoblastoma.
• Molecular and cellular biology of rare childhood tumors (sarcomas).
148 I Annual report 2015 I CIBERER
