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leaD reSearcHer
Posada de la Paz, Manuel
Instituto de Salud Carlos III
Instituto de Investigación en Enfermedades Raras Monforte de Lemos, 5
28029 Madrid
(+34) 918222044 /680457649 [email protected]
group website
GROUP MEMBERS
Staff members: López Martín, Estrella
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.
• National Rare Disease Registry (SpainRDR).
• Undiagnosed rare diseases program (SpainUDP).
• 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).
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PROGRAMMES
Pediatric and Developmental Medicine