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Secugen - R & D

For us R & D and Innovation are cornerstone of their business.
We develop research projects financed with own funds or grants from public agencies on a competitive basis.
We perform these activities in our daily work, from improving and optimizing processes to the development of specific developments in major diseases such as macular degeneration associated with age or rare diseases such as atypical Hemolytic Uremic Syndrome, or encephalopathy of childhood.
In this sense Secugen is making a special effort to transfer diagnostic platforms that are based on PCR and capillary sequencing to NGS technologies.
These developments allow Secugen to publish in scientific journal and to give a great support to their customer.

Do you have innovative projects? Let us know and we are pleased to work together.

R & D





Financial Institution

Development of a new kit to detect mutations and polymorphisms in the human mitochondrial genome
Biotec Cam
Comunidad Autónoma de Madrid
Proyecto Comunidad Madrid Unión Europea Feder

Development of a high-throughput diagnostic system to detect mutations and polymorphisms associated with age-related macular degeneration
M° de Educación y Ciencia
Ministerio Educación y Ciencia

Development of a high-throughput diagnostic system to detect mutations and polymorphisms associated with human nonsyndromic deafness
Biotec Cam
Comunidad Autónoma de Madrid
Proyecto Comunidad Madrid Unión Europea Feder

The microbial metagenome of the iberian peninsula
Ministerio de Ciencia e Innovación
Ministerio de Ciencia e Innovación

Development and probe of concept of a high-throughput diagnostic system to detect mutations and polymorphisms associated with age-related macular degeneration
Biotec Cam
Comunidad Autónoma de Madrid
Proyecto Comunidad Madrid Unión Europea Feder

Development of new DNA polymerases for amplification, modification and genetic analysis of DNA
Innpacto 2010
Ministerio de Ciencia e Innovación
Ministerio de Ciencia e Innovación

Integrated platform for molecular diagnostic of complement system related diseases
Unión Europea y Ministerio de Economía, Industria y Competitividad
Unión Europea y Ministerio de Economía, Industria y Competitividad


"ADAM10 Gene Variants in AD Patients and Their Relationship to CSF Protein Levels "
Pablo Agüero-Rabes, Julián Pérez-Pérez, Lucía Cremades-Jimeno, María-Salud García-Ayllón, Adriana Gea-González, María José Sainz, Ignacio Mahillo-Fernández, Raquel Téllez, Blanca Cárdaba, Javier Sáez-Valero and Estrella Gómez-Tortosa
Int. J. Mol. Sci. 2023, 24(7), 6113. Received: 14 February 2023 / Revised: 13 March 2023 / Accepted: 21 March 2023 / Published: 24 March 2023
"TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early-onset autosomal dominant dementia with amyloid load and parkinsonism "
Estrella Gómez-Tortosa, Yalda Baradaran-Heravi, Lubina Dillen, Nila Roy Choudhury, Pablo Agüero Rabes, Julián Pérez-Pérez, Cemile Kocoglu, M. José Sainz, Alicia Ruiz González, Raquel Téllez, Lucía Cremades-Jimeno, Blanca Cárdaba, EU EOD Consortium, Christine Van Broeckhoven, Gracjan Michlewski, Julie van der Zee
Alzheimer's & dementia, Received: 8 July 2022 / Revised: 27 September 2022 / Accepted: 10 November 2022 Published: 28 Dec 2022
"A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2 "
Suriel Errasti Díaz, Mercedes Peñalva, Lucía Recio-Poveda, Susana Vilches, Juan Casado-Vela, Julián Pérez-Pérez, Luisa María Botella, Virginia Albiñana and Angel M. Cuesta
J. Clin. Med. 2022, 11(11),Received: 4 May 2022 / Revised: 20 May 2022 / Accepted: 26 May 2022 / Published: 28 May 2022
"α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer's disease "
Pablo Agüero, María José Sainz, María-Salud García-Ayllón, Javier Sáez-Valero, Raquel Téllez, Rosa Guerrero-López, Julián Pérez-Pérez, José M Bastidas, Adriano Jiménez-Escrig, Estrella Gómez-Tortosa
Alzheimers Res Ther. 2020 Oct 31;12(1):139.doi: 10.1186/s13195-020-00708-0.
David M. Bastidas, J.Ress, G. Monrrabal, Asunción Díaz Carrasco, Julián Pérez-Pérez, José M Bastidas.
Engineering Failure Analysis. Volume 116, October 2020, 104734
"Clinical Experience with Plasma Progranulin as a Biomarker in a Dementia Cohort"
Estrella Gómez-Tortosa, María Ruggiero, Pablo Agüero, Andrea Gómez, Cristina Prieto-Jurczynska, Julián Pérez-Pérez, M. José Sainz and Rosa Guerrero-López
J Alzheimers Dis Parkinsonism 2019, Vol 9(4): 472
"Association between CFH, CFB, ARMS2, SERPINF1, VEGFR1 and VEGF polymorphisms and anatomical and functional response to ranibizumab treatment in neovascular age-related macular degeneration."
Cobos E, Recalde S, Anter J, Hernandez-Sanchez M, Barreales C, Olavarrieta L, Valverde A, Suarez-Figueroa M, Cruz F, Abraldes M, Pérez-Pérez J, Fernández-Robredo P, Arias L, García-Layana A.
Acta Ophthalmol. 2017 Sep 19. doi: 10.1111/aos.13519.
"Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation"
Gómez-Tortosa E, Van der Zee J, Ruggiero M, Gijselinck I, Esteban-Pérez J, García-Redondo A, Borrego-Hernández D, Navarro E, Sainz MJ, Pérez-Pérez J, Cruts M, Van Broeckhoven C, Guerrero-López R; EU EOD Consortium.
J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):996-997. doi: 10.1136/jnnp-2016-315250. Epub 2017 Apr 1.
"Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1"
Albiñana V, Zafra MP, Colau J, Zarrabeitia R, Recio-Poveda L, Olavarrieta L, Pérez-Pérez J, Botella LM.
BMC Med Genet. 2017 Feb 23;18(1):20. doi: 10.1186/s12881-017-0380-0.
"Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion"
Gómez-Tortosa E, Prieto-Jurczynska C, Serrano S, Franco-Macías E, Olivié L, Gallego J, Guerrero-López R, Trujillo-Tiebas MJ, Ayuso C, García Ruiz P, Pérez-Pérez J, Sainz MJ.
J Alzheimers Dis. 2016 Feb 26;52(1):25-31. doi: 10.3233/JAD-150922.
"Behavioral Evolution of Progressive Semantic Aphasia in Comparison with Nonfluent Aphasia."
Gómez-Tortosa E, Rigual R, Prieto-Jurczynska C, Mahillo-Fernández I, Guerrero-López R, Pérez-Pérez J, Sainz MJ.
Dement Geriatr Cogn Disord. 2016;41(1-2):1-8. doi: 10.1159/000439521.
"Sequencing of diverse mandarin, pummelo and orange genomes reveals complex history of admixture during citrus domestication"
Wu GA, Prochnik S, Jenkins J, Salse J, Hellsten U, Murat F, Perrier X, Ruiz M, Scalabrin S, Terol J, Takita MA, Labadie K, Poulain J, Couloux A, Jabbari K, Cattonaro F, Del Fabbro C, Pinosio S, Zuccolo A, Chapman J, Grimwood J, Tadeo FR, Estornell LH, Muñoz-Sanz JV, Ibanez V, Herrero-Ortega A, Aleza P, Pérez-Pérez J, Ramón D, Brunel D, Luro F, Chen C, Farmerie WG, Desany B, Kodira C, Mohiuddin M, Harkins T, Fredrikson K, Burns P, Lomsadze A, Borodovsky M, Reforgiato G, Freitas-Astúa J, Quetier F, Navarro L, Roose M, Wincker P, Schmutz J, Morgante M, Machado MA, Talon M, Jaillon O, Ollitrault P, Gmitter F, Rokhsar D.
Nat Biotechnol. 2014 Jun 8. doi: 10.1038/nbt.2906
"Familial benign frontotemporal deterioration with C9ORF72 hexanucleotide expansion"
Gomez-Tortosa E, Serrano S, de Toledo M, Pérez-Pérez J, Sainz, MJ
Alzheimers Dement. 2014 Jan 14. pii: S1552-5260(13)02848-3. doi: 10.1016/j.jalz.2013.09.013
"Plasma progranulin levels in cortical dementia phenotypes with asymmetric perisylvian atrophy"
Gomez-Tortosa E, Guerrero-López R, Gil-Neciga E, Franco E, Del Ser T, Jimenez-Escrig A, Pérez-Pérez J, Sainz MJ
European Journal of Neurology. 2013 Sep;20(9):1319-24. doi: 10.1111/ene.12211. Epub 2013 May 31.
"C9ORF72 Hexanucleotide expansions of only 20-22 repeats are associated with frontotemporal dementia"
Gómez-Tortosa E, Gallego J, Guerrero-López R, Marcos A, Gil-Neciga E, Sainz MJ, Díaz A, Franco-Macías E, Trujillo-Tiebas MJ, Ayuso C, and Pérez-Pérez J
Neurology. 2013 Jan 22;80(4):366-70. doi: 10.1212/WNL.0b013e31827f08ea. Epub 2013 Jan 2.
"Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration."
Martínez-Barricarte R, Recalde S, Fernández-Robredo P, Millán I, Olavarrieta L, Viñuela A, Pérez-Pérez J, García-Layana A, Rodríguez de Córdoba S ; Spanish Multicenter Group on AMD. Spanish Multicenter Group on AMD.
Invest Ophthalmol Vis Sci. 2012 Mar 1;53(3):1087-94. doi: 10.1167/iovs.11-8709.
"Taxonomic and functional metagenomic profiling of the microbial community in the anoxic sediment of a sub-saline shallow lake (Laguna de Carrizo, Central Spain)."
Ferrer M, Guazzaroni ME, Richter M, García-Salamanca A, Yarza P, Suárez-Suárez A, Solano J, Alcaide M, van Dillewijn P, Molina-Henares MA, López-Cortés N, Al-Ramahi Y, Guerrero C, Acosta A, de Eugenio LI, Martínez V, Marques S, Rojo F, Santero E, Genilloud O, Pérez-Pérez J, Rosselló-Móra R, Ramos JL
Microb Ecol. 2011 Nov;62(4):824-37. doi: 10.1007/s00248-011-9903-y. Epub 2011 Jul 7.
"Assessing Differential Expression Measurements by Highly Parallel Pyrosequencing and ADN Microarrays: A Comparative Study."
Ariño J, Casamayor A, Pérez-Pérez J, Pedrola L, Alvarez-Tejado M, Marbà M, Santoyo J, Dopazo J
OMICS. 2013 Jan;17(1):53-9. doi: 10.1089/omi.2011.0065. Epub 2011 Sep 15.
"Clinical-genetic correlations in familiar Alzheimer's disease caused by presenilin 1 mutations"
Gómez-Tortosa E, Barquero S, Barón M, Gil-Neciga E, Castellanos F, Zurdo M, Manzano S, Muñoz D, Jiménez-Huete A, Rábano A, Sainz MJ, Guerrero R, Gobernado I, Pérez-Pérez J, Jiménez-Escrig A
J Alzheimers Dis. 2010;19(3):873-84. doi: 10.3233/JAD-2010-1292.
"Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature."
Camacho A, Simón R, Sanz R, Viñuela A, Martínez-Salio A, Mateos F.
Epilepsy Behav. 2012 May;24(1):134-7. doi: 10.1016/j.yebeh.2012.02.023. Epub 2012 Apr 14.