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Biotecnología Celular
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 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 DOISpanish Cultural Validation of the Modified Checklist for Autism in Toddlers, Revised. J Autism Dev Disord. 2020 Jul;50(7):2412-2423
Magán-Maganto M, Canal-Bedia R, Hernández-Fabián A, Bejarano-Martín Á, Fernández-Álvarez CJ, Martínez-Velarte M, Martín-Cilleros MV, Flores-Robaina N, Roeyers H, Posada de la Paz M.
PUBMED DOITowards Harmonized Biobanking for Biomonitoring: A Comparison of Human Biomonitoring-Related and Clinical Biorepositories. Biopreserv Biobank. 2020 Apr;18(2):122-135
Lermen D, Gwinner F, Bartel-Steinbach M, Mueller SC, Habermann JK, Balwir MB, Smits E, Virgolino A, Fiddicke U, Berglund M, Åkesson A, Bergstrom A, Leander K, Horvat M, Snoj Tratnik J, Posada de la Paz M, Castaño Calvo A, Esteban López M, von Briesen H, Zimmermann H, Kolossa-Gehring M.
PUBMED DOIImproved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity. J Mol Diagn. 2020 Sep;22(9):1205-1215
Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.
PUBMED DOIEarly Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives. J Autism Dev Disord. 2020 Sep;50(9):3380-3394
Bejarano-Martín Á, Canal-Bedia R, Magán-Maganto M, Fernández-Álvarez C, Cilleros-Martín MV, Sánchez-Gómez MC, García-Primo P, Rose-Sweeney M, Boilson A, Linertová R, Roeyers H, Van der Paelt S, Schendel D, Warberg C, Cramer S, Narzisi A, Muratori F, Scattoni ML, Moilanen I, Yliherva A, Saemundsen E, Loa Jónsdóttir S, Efrim-Budisteanu M, Arghir A, Papuc SM, Vicente A, Rasga C, Rogé B, Guillon Q, Baduel S, Kafka JX, Poustka L, Kothgassner OD, Kawa R, Pisula E, Sellers T, Posada de la Paz M.
PUBMED DOISolving unsolved rare neurological diseases-a Solve-RD viewpoint. Eur J Hum Genet. 2021 Sep;29(9):1332-1336
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium.
PUBMED DOISolving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021 Sep;29(9):1337-1347
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia.
PUBMED DOIA MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis. Eur J Hum Genet. 2021 Sep;29(9):1359-1368
de Boer E, Ockeloen CW, Matalonga L, Horvath R; Solve-RD SNV-indel working group; Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I; Solve-RD-DITF-ITHACA; Trimouille A, Kleefstra T, Verloes A, Vissers LELM.
PUBMED DOISolve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021 Sep;29(9):1325-1331
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium.
PUBMED DOIVigilancia de las enfermedades raras en España: el Registro Estatal de Enfermedades Raras (ReeR). Rev Esp Salud Publica. 2021 Nov 2;95:e202111186
Vicente E, Ardanaz E, Ramalle-Gómara E, Echevarría LJ, Mira MP, Chalco-Orrego JP, Benito C, Guardiola-Vilarroig S, Mallol C, Guinaldo JM, Carrillo P, Cáffaro M, Compés ML, Caro MN, Alonso-Ferreira V, Soler P.
PUBMEDWilson's disease in Spain: validation of sources of information used by the Rare Diseases Registries. Gac Sanit. 2021 Nov-Dec 35(6):551-558
Moreno-Marro S, Barrachina-Bonet L, Páramo-Rodríguez L, Alonso-Ferreira V, Guardiola-Vilarroig S, Vicente E, García-López M, Palomar-Rodríguez J, Zoni AC, Zurriaga Ó, Cavero-Carbonell C; Grupo de trabajo Wilson-RAER.
PUBMED DOIRetraso diagnóstico en enfermedades raras: revisión sistemática. Rev Esp Salud Publica. 2022 Jan 10;96:e202201001
Berrocal-Acedo M, Benito-Lozano J, Alonso-Ferreira V, Vilches-Arenas Á.
PUBMEDStudy of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome. Neurologia (Engl Ed). 2022 Mar;37(2):91-100
Jiménez Legido M, Cortés Ledesma C, Bernardino Cuesta B, López Marín L, Cantarín Extremera V, Pérez-Cerdá C, Pérez González B, López-Martín E, González Gutiérrez-Solana L.
PUBMED DOIEffect of a Focused Social and Communication Intervention on Preterm Children with ASD: A Pilot Study. J Autism Dev Disord. 2022 Apr;52(4):1725-1740
Bejarano-Martín Á, Canal-Bedia R, Magán-Maganto M, Hernández Fabián A, Calvarro Castañeda AL, Manso de Dios S, Malmierca García P, Díez Villoria E, Jenaro Río C, Posada de la Paz M.
PUBMED DOIInformación adicional
La Unidad de Biotecnología Celular tiene una clara vocación traslacional en sus líneas de investigación, poniendo el foco en el paciente. Trabajamos para entender las enfermedades, su origen y evolución, pero siempre con el objetivo del desarrollo de nuevos tratamientos terapéuticos, especialmente en el área de las Terapias Avanzadas.
Tesis doctorales:
- Dra. Isabel del Portillo Miguel: Tratamiento de neoplasias caninas con células madre mesenquimales infectadas con un adenovirus oncolítico. Universidad Alfonso X el Sabio.
- Daniel Rubio: Transformación espontánea de una célula madre humana adulta. Universidad Autónoma de Madrid.
- Dra. Isabel Punzón. Desarrollo de procedimientos de transgénesis mediante el uso de vectores lentivirales. Aplicación a la mejora de modelos murinos de xenotrasplante. Universidad Autónoma de Madrid.
- Dra. Bárbara Guinea: Caracterización funcional dual de la Ser/thr quinasa PKL12 como cofactor transcripcional y su implicación en oncogénesis. Universidad Autónoma de Madrid.
- Dra. Ana Gómez Vitores: Estudios anatomopatológicos, histopatológicos e inmunohistoquímicos en sarcomas caninos tratados con CELYVIR. Universidad Alfonso X el Sabio.
Personal previo del grupo:
- Teresa Cejalvo (Sara Borrell). 2014-2017.
- Arantzazu Alfranca, postdoctoral (Miguel Servet I). 2012-2015. Hosp. La Princesa.
- Esther Rincón, postdoctoral (Sara Borrell). 2011-2014. UC Davis (EE.UU.).
- Ander Abarrategi, postdoctoral (Juan de la Cierva / Sara Borrell). 2011-204. The Francis Crick Institute (UK)
- Manuel Márquez (profesor invitado). 2011-2012. Universidad de Virgina (EE.UU.)
- Luis Mariñas (contrato Xunta Galicia) . 2010-2012. Centauri Biotech SL.
- Isabel Mirones (contrato MICINN). 2010-2013. Biodan Group S.A.
- René Rodríguez, postdoctoral (contrato AECC). 2007-2009. Instituto Universitario de Oncología de Asturias
- Manuel Masip, postdoctoral (contrato Junta Andalucía). 2007-2009.
- Ruth Rubio, predoctoral (plantilla). 2007-2009. Institute of Functional Genomics of Lyon (Francia).
- Daniel Pérez, predoctoral (contrato FIS). 2006. CBM-UAM
- Daniel Rubio, predoctoral. 2002-2006. Fox Chase Cancer Center (EE.UU.)
- Isabel Punzón, predoctoral. 2002-2006. CNRS (Francia)
- Bárbara Guinea, predoctoral, 2002-2006. MIN.
Patentes (últimos 5 años):
- Javier García Castro, Arantzazu Alfranca. Vector lentiviral de expresión autolimitada. P201530001.
- Álvaro Morales, Teresa Cejalvo, Judith Perisé, Stefano Gambera, Javier García Castro. Combination product comprising a modified mesenchymal stem cell and an antigenic substance. P201731066