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Unidad de Investigación en Modelos y Mecanismos
Publicaciones destacadas
Identifying data sources for a national population-based registry: the experience of the Spanish Rare Diseases Registry. Public Health. 2015 Mar;129(3):271-5
Zoni AC, Domínguez Berjón MF, Barceló E, Esteban Vasallo MD, Abaitua I, Jiménez Villa J, Margolles Martins M, Navarro C, Posada de la Paz M, Ramos Aceitero JM, Vázquez Santos C, Zurriaga Llorens O, Astray Mochales J; Spain-RDR Group.
PUBMED DOIThe TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat. 2015 Apr;36(4):395-402
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H.
PUBMED DOIThe EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases. Eur J Hum Genet. 2015 Sep;23(9):1116-23
Mora M, Angelini C, Bignami F, Bodin AM, Crimi M, Di Donato JH, Felice A, Jaeger C, Karcagi V, LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, de la Paz MP, Saker S, Schneiderat P, Ensini M, Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puymirat J, Reza M, Voit T, Baldo C, Bricarelli FD, Goldwurm S, Merla G, Pegoraro E, Renieri A, Zatloukal K, Filocamo M, Lochmüller H.
PUBMED DOIOsteochondromas in fibrodysplasia ossificans progressiva: a widespread trait with a streaking but overlooked appearance when arising at femoral bone end. Rheumatol Int. 2015 Oct;35(10):1759-67
Morales-Piga A, Bachiller-Corral J, González-Herranz P, Medrano-SanIldelfonso M, Olmedo-Garzón J, Sánchez-Duffhues G.
PUBMED DOISocial/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe. Eur J Health Econ. 2016 Apr;17 Suppl 1:19-29
Cavazza M, Kodra Y, Armeni P, De Santis M, 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, Chevreul K, Persson U, Fattore G; BURQOL-RD Research Network.
PUBMED DOISocial/economic costs and health-related quality of life in patients with scleroderma in Europe. Eur J Health Econ. 2016 Apr;17 Suppl 1:109-17
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 Prader-Willi syndrome in Europe. Eur J Health Econ. 2016 Apr;17 Suppl 1:99-108
López-Bastida J, Linertová R, Oliva-Moreno J, Posada de la Paz M, Serrano-Aguilar P, Kanavos P, Taruscio D, Schieppati A, Iskrov G, Baji P, 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 histiocytosis in Europe. Eur J Health Econ. 2016 Apr;17 Suppl 1:67-78
Iskrov G, Astigarraga I, Stefanov R, López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada de la Paz M, Schieppati A, Taruscio D, Péntek M, von der Schulenburg JM, Kanavos P, Chevreul K, Persson U, Fattore G; BURQOL-RD Research Network.
PUBMED DOISocial/economic costs and quality of life in patients with haemophilia in Europe. Eur J Health Econ. 2016 Apr;17 Suppl 1:53-65
Cavazza M, Kodra Y, Armeni P, De Santis M, 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, 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 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 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 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 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 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 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 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 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 DOIThe 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 DOIThe view of experts on initiatives to be undertaken to promote equity in the access to orphan drugs and specialised care for rare diseases in Spain: A Delphi consensus. Health Policy. 2018 Jun;122(6):590-598
Torrent-Farnell J, Comellas M, Poveda JL, Abaitua I, Gutiérrez-Solana LG, Pérez-López J, Cruz J, Urcelay J, Lizán L.
PUBMED DOIRecommendations for Improving the Quality of Rare Disease Registries. Int J Environ Res Public Health. 2018 Aug 3;15(8):1644
Kodra Y, Weinbach J, Posada de la Paz M, Coi A, Lemonnier SL, van Enckevort D, Roos M, Jacobsen A, Cornet R, Ahmed SF, Bros-Facer V, Popa V, Van Meel M, Renault D, von Gizycki R, Santoro M, Landais P, Torreri P, Carta C, Mascalzoni D, Gainotti S, López-Martín E, Ambrosini A, Müller H, Reis R, Bianchi F, Rubinstein YR, Lochmüller H, Taruscio D.
PUBMED DOIBuilding a theoretical framework for autism spectrum disorders screening instruments in Europe. Child Adolesc Ment Health. 2018 Nov;23(4):359-367
Magán-Maganto M, Jónsdóttir SL, Sánchez-García AB, García-Primo P, Hellendoorn A, Charman T, Roeyers H, Dereu M, Moilanen I, Muratori F, Posada de la Paz M, Rogé B, Oosterling IJ, Yliherva A, Canal-Bedia R.
PUBMED DOIFabry Nephropathy: An Evidence-Based Narrative Review. Kidney Blood Press Res. 2018;43(2):406-421
Del Pino M, Andrés A, Bernabéu AÁ, de Juan-Rivera J, Fernández E, de Dios García Díaz J, Hernández D, Luño J, Fernández IM, Paniagua J, Posada de la Paz M, Rodríguez-Pérez JC, Santamaría R, Torra R, Ambros JT, Vidau P, Torregrosa JV.
PUBMED DOIInformación adicional
La Unidad de Modelos y Mecanismos tiene como objetivo la generación de modelos celulares para facilitar el diagnóstico de enfermedades raras complejas y estudiar los mecanismos moleculares responsables de la sintomatología de los pacientes. Entre otros modelos generamos células madre pluripotentes inducidas, también conocidas como iPSCs, a partir de células somáticas de pacientes con enfermedades raras que posteriormente diferenciamos a tipos celulares relevantes para estudiar la enfermedad, como por ejemplo neuronas. Nuestra unidad se centra especialmente (aunque no exclusivamente) en el estudio de enfermedades raras con base epigenética y en el uso de perfiles epigenéticos para mejorar el diagnóstico.