We protect your health through science
Investigación
Investigación sobre Anomalías Congénitas
Líneas de investigación
Content with Investigacion .
Terapia Génica
Nuestro grupo está centrado en (i) la investigación de los mecanismos subyacentes a distintos tipos de tumores huérfanos y enfermedades raras y (ii) la búsqueda de nuevas estrategias terapéuticas para combatir las enfermedades raras.
Nuestras líneas de investigación están actualmente enfocadas en los tumores de la granulosa ovárica asociados a FOXL2, la leucoencefalopatía agresiva precoz relacionada con KARS1 y en las distrofias musculares congénitas asociadas a LMNA. En todos los casos el editado génico mediado por CRISPR es la aproximación terapéutica mayormente seleccionada.
Contamos con la siguiente financiación:
- Evolución de estrategias terapéuticas basadas en CRISPR/Cas con potencial para el tratamiento de la distrofia muscular congénita asociada a LMNA (PI23CIII/00041). Acción Estratégica en Salud Intramural ISCIII 2023. IP: Ignacio Pérez de Castro. 2025-27. 138000€.
- La vía de los glucocorticoides en la distrofia muscular congénita relacionada con LMNA: Descifrando mecanismos y probando estrategias terapéuticas (PID2023-147678OB-I00). Proyectos Generación de Conocimiento AEI 2023. IP: Ignacio Pérez de Castro. 2025-27. 275000€.
- Investigating the potential of Replacement Gene Therapy for Early-Onset Progressive Leukoencephalopathy using iPSCs and a Kras1 knock-in mouse model. Cure KARS Laia Foundation. IP: Ignacio Pérez de Castro. 2025-28. 250000€.
- Distrofias congénitas asociadas a LMNA. LCMD-Research Foundation. IP: Ignacio Pérez de Castro. 2026-27. 43000€.
Publicaciones destacadas
Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study. Health Policy. 2012 Nov;108(1):19-26
Linertová R, Serrano-Aguilar P, Posada de la Paz M, Hens-Pérez M, Kanavos P, Taruscio D, Schieppati A, Stefanov R, Péntek M, Delgado C, von der Schulenburg JM, Persson U, Chevreul K, Fattore G, Worbes-Cerezo M, Sefton M, López-Bastida J; BURQOL-RD Research Group.
PUBMED DOIA Multicountry Analysis of Prevalence and Mortality among Neonates and Children with Bladder Exstrophy. Am J Perinatol. 2024 Jul;41(9):1143-1154
Kancherla V, Tandaki L, Sundar M, Lux A, Bakker MK, Bergman JE, Bermejo-Sánchez E, Canfield MA, Feldkamp ML, Groisman B, Hurtado-Villa P, Källén K, Landau D, Lelong N, Lopez-Camelo J, Mastroiacovo P, Morgan M, Mutchinick OM, Nance AE, Nembhard WN, Pierini A, Šípek A, Stallings EB, Szabova E, Wertelecki W, Zarante I, Rissmann A.
PUBMED DOIAnalysis of early neonatal case fatality rate among newborns with congenital hydrocephalus, a 2000-2014 multi-country registry-based study. Defects Res. 2022 Jul 15;114(12):631-644
Gili JA, López-Camelo JS, Nembhard WN, Bakker M, de Walle HEK, Stallings EB, Kancherla V; ECEMC Peripheral Group; Contiero P, Dastgiri S, Feldkamp ML, Nance A, Gatt M, Martínez L, Canessa MA, Groisman B, Hurtado-Villa P, Källén K, Landau D, Lelong N, Morgan M, Arteaga-Vázquez J, Pierini A, Rissmann A, Sipek A, Szabova E, Wertelecki W, Zarante I, Canfield MA, Mastroiacovo P.
PUBMED DOIAnalysis of Mortality among Neonates and Children with Spina Bifida: An International Registry-Based Study, 2001-2012. Paediatr Perinat Epidemiol. 2019 Nov;33(6):436-448
Bakker MK, Kancherla V, Canfield MA, Bermejo-Sanchez E, Cragan JD, Dastgiri S, De Walle HEK, Feldkamp ML, Groisman B, Gatt M, Hurtado-Villa P, Kallen K, Landau D, Lelong N, Lopez Camelo JS, Martínez L, Morgan M, Mutchinick OM, Nembhard WN, Pierini A, Rissmann A, Sipek A, Szabova E, Tagliabue G, Wertelecki W, Zarante I, Mastroiacovo P.
PUBMED DOIDeletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome. Am J Med Genet A. 2015 Jun;167(6):1243-51
Arroyo-Carrera I, de Zaldívar Tristancho MS, Bermejo-Sánchez E, Martínez-Fernández ML, López-Lafuente A, MacDonald A, Zúñiga Á, Luis Gómez-Skarmeta J, Luisa Martínez-Frías M.
PUBMED DOIDelineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date. Am J Med Genet A. 2015 Sep;167A(9):2034-41
Martínez-Fernández ML, Fernández-Toral J, Llano-Rivas I, Bermejo-Sánchez E, MacDonald A, Martínez-Frías ML.
PUBMED DOIEffects of maternal modafinil treatment on fetal development and neonatal growth parameters - a multicenter case series of the European Network of Teratology Information Services (ENTIS). Acta Psychiatr Scand. 2023 Dec 18
Onken M, Lohse L, Coulm B, Beghin D, Richardson JL, Bermejo-Sánchez E, Aguilera C, Bosch M, Cassina M, Chouchana L, De Santis M, Duman MK, Gören MZ, Johnson D, Bera APJ, Kaplan YC, Kennedy D, Kwok S, Lacroix I, Lepelley M, Pistelli A, Schaefer C, Te Winkel B, Uysal N, Winterfeld U, Yakuwa N, Diav-Citrin O, Vial T, Dathe K.
PUBMED DOIEuropean recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans. Public Health Genomics. 2014;17(2):115-23
Taruscio D, Arriola L, Baldi F, Barisic I, Bermejo-Sánchez E, Bianchi F, Calzolari E, Carbone P, Curran R, Garne E, Gatt M, Latos-Bieleńska A, Khoshnood B, Irgens L, Mantovani A, Martínez-Frías ML, Neville A, Rißmann A, Ruggeri S, Wellesley D, Dolk H.
PUBMED DOIExpanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. Hum Mutat. 2020 Sep;41(9):1615-1628
Abdelfattah F, Kariminejad A, Kahlert AK, Morrison PJ, Gumus E, Mathews KD, Darbro BW, Amor DJ, Walsh M, Sznajer Y, Weiß L, Weidensee S, Chitayat D, Shannon P, Bermejo-Sánchez E, Riaño-Galán I, Hayes I, Poke G, Rooryck C, Pennamen P, Khung-Savatovsky S, Toutain A, Vuillaume ML, Ghaderi-Sohi S, Kariminejad MH, Weinert S, Sticht H, Zenker M, Schanze D.
PUBMED DOIFive new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. Orphanet J Rare Dis. 2020 Feb 10;15(1):44
Urreizti R, Lopez-Martin E, Martinez-Monseny A, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan M, Grinberg D, Bermejo-Sánchez E, Balcells S.
PUBMED DOIGastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017.Birth Defects Res. 2024 Feb;116(2):e2306
Feldkamp ML, Canfield MA, Krikov S, Prieto-Merino D, Šípek A Jr, LeLong N, Amar E, Rissmann A, Csaky-Szunyogh M, Tagliabue G, Pierini A, Gatt M, Bergman JEH, Szabova E, Bermejo-Sánchez E, Tucker D, Dastgiri S, Bidondo MP, Canessa A, Zarante I, Hurtado-Villa P, Martinez L, Mutchinick OM, Camelo JL, Benavides-Lara A, Thomas MA, Liu S, Nembhard WN, Gray EB, Nance AE, Mastroiacovo P, Botto LD.
PUBMED DOIHeterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B. Hum Mutat. 2020 Jan;41(1):265-276
Palencia-Campos A, Martínez-Fernández ML, Altunoglu U, Soto-Bielicka P, Torres A, Marín P, Aller E, Şentürk L, Berköz Ö, Yıldıran M, Kayserili H, Gil-Camarero E, Colli-Lista G, Sanchís-Calvo A, Carretero A; ECEMC Working Group on Polydactyly; Guillén-Navarro E, López-González V, Ballesta-Martínez M, Rosell J, Aglan MS, Temtamy S, Otaify GA, Cuevas-Catalina L, Torres-Saavedra MN, Nevado J, Tenorio J, Lapunzina P, Bermejo-Sánchez E, Ruiz-Pérez VL.
PUBMED DOIHypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980-2010
Yu X, Nassar N, Mastroiacovo P, Canfield M, Groisman B, Bermejo-Sánchez E, Ritvanen A, Kiuru-Kuhlefelt S, Benavides A, Sipek A, Pierini A, Bianchi F, Källén K, Gatt M, Morgan M, Tucker D, Canessa MA, Gajardo R, Mutchinick OM, Szabova E, Csáky-Szunyogh M, Tagliabue G, Cragan JD, Nembhard WN, Rissmann A, Goetz D, Bower C, Baynam G, Lowry RB, Leon JA, Luo W, Rouleau J, Zarante I, Fernandez N, Amar E, Dastgiri S, Contiero P, Martínez-de-Villarreal LE, Borman B, Bergman JEH, de Walle HEK, Hobbs CA, Nance AE, Agopian AJ.
PUBMED DOIPhocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):305-20
Bermejo-Sánchez E, Cuevas L, Amar E, Bianca S, Bianchi F, Botto LD, Canfield MA, Castilla EE, Clementi M, Cocchi G, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías ML.
PUBMED DOIPrevalence and mortality among children with anorectal malformation: A multi-country analysis.Birth Defects Res. 2023 Feb 1;115(3):390-404
Kancherla V, Sundar M, Tandaki L, Lux A, Bakker MK, Bergman JE, Bermejo-Sánchez E, Canfield MA, Dastgiri S, Feldkamp ML, Gatt M, Groisman B, Hurtado-Villa P, Kallen K, Landau D, Lelong N, Lopez-Camelo J, Martinez LE, Mastroiacovo P, Morgan M, Mutchinick OM, Nance AE, Nembhard WN, Pierini A, Sipek A, Stallings EB, Szabova E, Tagliabue G, Wertelecki W, Zarante I, Rissmann A.
PUBMED DOIPrevalence and mortality in children with congenital diaphragmatic hernia: a multicountry study. Ann Epidemiol. 2021 Apr;56:61-69.e3
Politis MD, Bermejo-Sánchez E, Canfield MA, Contiero P, Cragan JD, Dastgiri S, de Walle HEK, Feldkamp ML, Nance A, Groisman B, Gatt M, Benavides-Lara A, Hurtado-Villa P, Kallén K, Landau D, Lelong N, Lopez-Camelo J, Martinez L, Morgan M, Mutchinick OM, Pierini A, Rissmann A, Šípek A, Szabova E, Wertelecki W, Zarante I, Bakker MK, Kancherla V, Mastroiacovo P, Nembhard WN; International Clearinghouse for Birth Defects Surveillance and Research.
PUBMED DOIPrevention of Neural Tube Defects in Europe: A Public Health Failure. Pediatr. 2021 Jun 24;9:647038
Morris JK, Addor MC, Ballardini E, Barisic I, Barrachina-Bonet L, Braz P, Cavero-Carbonell C, Den Hond E, Garne E, Gatt M, Haeusler M, Khoshnood B, Lelong N, Kinsner-Ovaskainen A, Kiuru-Kuhlefelt S, Klungsoyr K, Latos-Bielenska A, Limb E, O'Mahony MT, Perthus I, Pierini A, Rankin J, Rissmann A, Rouget F, Sayers G, Sipek A Jr, Stevens S, Tucker D, Verellen-Dumoulin C, de Walle HEK, Wellesley D, Wertelecki W, Bermejo-Sanchez E.
PUBMED DOIRecurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet. 2015 Jul 2;97(1):99-110
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC.
PUBMED DOISurvival of infants born with esophageal atresia among 24 international birth defects surveillance programs. Birth Defects Res. 2021 Jul 15;113(12):945-957
Bell JC, Baynam G, Bergman JEH, Bermejo-Sánchez E, Botto LD, Canfield MA, Dastgiri S, Gatt M, Groisman B, Hurtado-Villa P, Kallen K, Khoshnood B, Konrad V, Landau D, Lopez-Camelo JS, Martinez L, Morgan M, Mutchinick OM, Nance AE, Nembhard W, Pierini A, Rissmann A, Shan X, Sipek A, Szabova E, Tagliabue G, Yevtushok LS, Zarante I, Nassar N.
PUBMED DOIA multi-country study of prevalence and early childhood mortality among children with omphalocele. Birth Defects Res. 2020 Dec;112(20):1787-1801
Nembhard WN, Bergman JEH, Politis MD, Arteaga-Vázquez J, Bermejo-Sánchez E, Canfield MA, Cragan JD, Dastgiri S, de Walle HEK, Feldkamp ML, Nance A, Gatt M, Groisman B, Hurtado-Villa P, Kallén K, Landau D, Lelong N, Lopez-Camelo J, Martinez L, Morgan M, Pierini A, Rissmann A, Šípek A, Szabova E, Tagliabue G, Wertelecki W, Zarante I, Bakker MK, Kancherla V, Mastroiacovo P.
PUBMED DOIModel matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe). Lab Anim (NY). 2024 Jul;53(7):161-165
Ellwanger K, Brill JA, de Boer E, Efthymiou S, Elgersma Y, Icmat M, Lecoquierre F, Lobato AG, Morleo M, Ori M, Schaffer AE, Vitobello A, Wells S, Yalcin B, Zhai RG, Sturm M, Zurek B, Graessner H, Bermejo-Sánchez E, Evangelista T, Hoogerbrugge N, Nigro V, Schüle R, Verloes A, Brunner H, Campeau PM, Lasko P, Riess O.
PUBMED DOICERT1 mutations perturb human development by disrupting sphingolipid homeostasis. J Clin Invest. 2023 May 15;133(10):e165019
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA.
PUBMED DOIClinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. HGG Adv. 2023 Mar 3;4(2):100186
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S.
PUBMED DOIContent with Investigacion .
-
-
Mario Santafé
Estudiante de doctorado
-
Silvia Méndez
Estudiante de doctorado
-
Iván Hernández-Martínez
Estudiante de doctorado
-
Déborah Gómez-Domínguez
Investigadora postdoctoral
-
-
-
María Luisa Martínez Fernández
Técnico Superior Especializado de OPI
ORCID code: 0000-0001-8615-0226
List of staff