Protegemos tu salud a través de la Ciencia
Recursos del IIER
Diagnóstico genético
Diagnóstico Retinoblastoma
Diagnóstico Déficit de alfa-1 antitripsina
Diagnóstico genético de Epidermólisis Bullosa
Diagnóstico Programa Casos No Diagnosticados (SpainUDP)
Diagnóstico de tumores de ovario de células de la granulosa
Publicaciones destacadas
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers. Eur J Hum Genet. 2018 May;26(5):631-643
Gainotti S, Torreri P, Wang CM, Reihs R, Mueller H, Heslop E, Roos M, Badowska DM, de Paulis F, Kodra Y, Carta C, López-Martín E, Miller VR, Filocamo M, Mora M, Thompson M, Rubinstein Y, Posada de la Paz M, Monaco L, Lochmüller H, Taruscio D.
PUBMED DOIImproved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework. Adv Exp Med Biol. 2017;1031:55-94
Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS.
PUBMED DOILinked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer. Biomed Res Int. 2017;2017:8327980
Sernadela P, González-Castro L, Carta C, van der Horst E, Lopes P, Kaliyaperumal R, Thompson M, Thompson R, Queralt-Rosinach N, Lopez-Martín E, Wood L, Robertson A, Lamanna C, Gilling M, Orth M, Merino-Martinez R, Posada de la Paz M, Taruscio D, Lochmüller H, Robinson P, Roos M, Oliveira JL.
PUBMED DOIMonitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns. Neuroepidemiology. 2016;47(3-4):155-163
Sánchez-Díaz G, Arias-Merino G, Villaverde-Hueso A, Morales-Piga A, Abaitua-Borda I, Hens M, Bermejo-Sánchez E, Posada de la Paz M, Alonso-Ferreira V.
PUBMED DOIImproving the informed consent process in international collaborative rare disease research: effective consent for effective research. Eur J Hum Genet. 2016 Aug;24(9):1248-54
Gainotti S, Turner C, Woods S, Kole A, McCormack P, Lochmüller H, Riess O, Straub V, Posada M, Taruscio D, Mascalzoni D.
PUBMED DOISocial/economic costs and health-related quality of life in patients with epidermolysis bullosa in Europe. Eur J Health Econ. 2016 Apr;17 Suppl 1(Suppl 1):31-42
Angelis A, Kanavos P, López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada de la Paz M, Taruscio D, Schieppati A, Iskrov G, Brodszky V, von der Schulenburg JM, Chevreul K, Persson U, Fattore G; BURQOL-RD Research Network.
PUBMED DOISocial/economic costs and health-related quality of life in patients with juvenile idiopathic arthritis in Europe. Eur J Health Econ. 2016 Apr;17 Suppl 1:79-87
Kuhlmann A, Schmidt T, Treskova M, López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada de la Paz M, Kanavos P, Taruscio D, Schieppati A, Iskrov G, Péntek M, Delgado C, von der Schulenburg JM, Persson U, Chevreul K, Fattore G; BURQOL-RD Research Network.
PUBMED DOISocial/economic costs and health-related quality of life in patients with fragile X syndrome in Europe. Eur J Health Econ. 2016 Apr;17 Suppl 1:43-52
Chevreul K, Gandré C, Brigham KB, López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada de la Paz M, Taruscio D, Schieppati A, Iskrov G, Gulácsi L, von der Schulenburg JM, Kanavos P, Persson U, Fattore G; BURQOL-RD Research Network.
PUBMED DOISocial/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe. Eur J Health Econ. 2016 Apr;17 Suppl 1:89-98
Péntek M, Gulácsi L, Brodszky V, Baji P, Boncz I, Pogány G, López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada de la Paz M, Taruscio D, Iskrov G, Schieppati A, von der Schulenburg JM, Kanavos P, Chevreul K, Persson U, Fattore G; BURQOL-RD Research Network.
PUBMED DOISocial/economic costs and health-related quality of life in patients with cystic fibrosis in Europe. Eur J Health Econ. 2016 Apr;17 Suppl 1:7-18
Chevreul K, Michel M, Brigham KB, López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada de la Paz M, Taruscio D, Schieppati A, Iskrov G, Péntek M, von der Schulenburg JM, Kanavos P, Persson U, Fattore G; BURQOL-RD Research Network.
PUBMED DOIEl Área de Genética Humana (AGH) adscrita al Instituto de Investigación en Enfermedades Raras, cuenta con un Servicio de Diagnóstico Genético en el que se ofertan servicios para el diagnóstico de diferentes enfermedades genéticas. El AGH aporta experiencia en numerosas técnicas de secuenciación masiva y análisis de datos de gran proyección en la recién iniciada era post-genómica.
Beatriz Martínez Delgado Gema Gómez Mariano
bmartinezd@isciii.es ggomezm@isciii.es
Telf: 91 8223152 Telf: 91 8223101