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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: Early 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 disease registry; health costs; quality of life . • Progressive spastic paraplegia and ataxias . • National Rare Disease Registry (SpainRDR) . • National Rare Disease Biobank (BioNER) .
• National germ line mutations database (SpainMDB) . • Development of computer workflows for the analysis and interpretation of data generated by massive
sequencing .
• Identification of microRNAs involved in regulating genes causing rare diseases by means of high- throughput assays with microRNA libraries .
• Genetics of retinoblastoma . • Molecular and cellular biology of rare childhood tumors (sarcomas) .
176 CIBERER » Annual report 2014