Grupo enfermedades rarasHigh resolution image. This link will open using lightbox, there may be a context switchGrupo enfermedades rarasHeads

  • Carmen Ayuso García (Head of Group CIBERER)
  • Marta Rodríguez de Alba Freiría

Research staff

  • María José Trujillo Tiebas
  • Fiona Blanco Kelly
  • Ana Bustamante Aragonés
  • Isabel Lorda Sánchez
  • Rosa Riveiro Álvarez

Trainees and researchers

  • Marta Cortón Pérez (Miguel Servet)
  • Almudena Ávila Fernández (Postdoctoral CIBERER)
  • Rocío Sánchez Alcudia (Postdoctoral Sara Borrell)
  • Iker Sánchez Navarro (Postdoctoral Sara Borrell)
  • Juan Pablo Trujillo Quintero (Postdoctoral, Universidad Alcalá de Henares)
  • Luciana Jacy da Silva (Postdoctoral, Gobierno Brasil)
  • Patricia Fernández San José (Predoctoral y Río Hortega)
  • Clara Isabel Gómez Sánchez (Predoctoral FCR)
  • Raquel Pérez Carro (Predoctoral FCR)
  • Sara Perlado Marina (Predoctoral FCR)
  • Sorina Tatu (Predoctoral FCR until Dec 31st 2013, asistente voluntaria desde 2014)

Technical Staff

  • Ruth Fernández Sánchez (Research Technician, Genomics Unit)
  • Maria Dolores Gomez (Project manager FUAM)
  • Cristina Villaverde Montero (Research Technician IIS, Genomics Unit)
  • Miguel Ángel López Martínez (Research technician, CIBERER)
  • Olga Zurita Muñoz (Research technician, CIBERER)
  • Noelia Reyes Rodríguez (Research technician)
  • Noelia Sanchez Bolívar (Research technician FUAM)
  • Carolina Arroyo Díaz
  • Rocío Libertad Cardero Merlo
  • Jesús Gallego Merlo
  • Ascensión Giménez Pardo
  • Laura Horcajada Burgos
  • Fernando Infantes Barbero
  • Camilo Vélez Monsalve
  • Mónica Sánchez Martínez (until May 2013)

Main lines of research

Rare Diseases Research

* Principal Investigator: Carmen Ayuso

- Design of clinical and molecular diagnostic protocols: incorporating the diagnosis of more than 150 diseases and over 300 genes into the SNS, with over 15,000 molecular diagnoses performed.

- Development of diagnostic algorithms for rare and common genetic diseases, drafting and publication of Clinical Practice Guidelines.

Neurosensory disease research: Ophthalmogenetics

* Principal Investigator: Carmen Ayuso

The research team has 20 years of experience studying retinal dystrophies with numerous publications in national and international journals. Important contributions include cloning/identification of more than 10 new genes; clinical and molecular study of syndromic and non-syndromic disease forms; study of genotype-phenotype correlations.

This line of research involves collaborations with national (CIBERER, EsRetNet) and international (Eurogentest and ERDC) groups.

Study of new cell, gene, and pharmacogenetic therapies.

* Principal Investigator: Carmen Ayuso

In recent years, the group has developed new lines of research for the design of new therapeutic approaches based on pharmacogenetics and cell therapy, including the use of microarrays and the development and validation of pharmacogenetic tools, with interesting results.

Research in genomics and bioethics

* Principal Investigator: Carmen Ayuso

Genomics approaches are of incalculable value for the diagnosis of new diseases and the discovery of new drugs and therapies, but raise ethical and legal challenges that must be analyzed from a bioethicical perspective, rather than merely from a scientific/technical point of view.

Noninvasive prenatal diagnosis

* Principal Investigator: Marta Rodríguez de Alba

More than 15 years of experience in noninvasive prenatal diagnosis with over 6 projects awarded since 1997: research in reproductive and fetal medicine, translational research in noninvasive prenatal diagnosis and preimplantation diagnosis.

Imagen ERDCImagen ERDC

The research group belongs to the European Retinal Disease Consortium (ERDC) ( link opens in a popup window). ERDC was initiated in 2008 to stimulate collaborations in the field of inherited retinal diseases (IRDs). This collaboration has resulted in many joint papers to date. A Marie Curie Initial Training Network entitled EyeTNThis link opens in a popup window was set up by seven groups from ERDC and seven industrial partners ( link opens in a popup window).

Publications (2014)

Nº total de publicaciones

Nº de publicaciones con FI

FI Acumulado

FI medio anual


(%) Q1







1. Ayuso C, Millán JM, Mancheño M, Dal-Ré R. .Reply to Townsend et al.Eur J Hum Genet. 2014 Jan;22(1):7. doi: 10.1038/ejhg.2013.95. Epub 2013 May 15. .PubMed PMID:23674173

2. Baquero-Montoya C Gil-Rodríguez M C Teresa-Rodrigo M E Hernández-Marcos M Bueno-Lozano G Bueno-Martínez I Remeseiro S Fernández-Hernández R Bassecourt-Serra M Rodríguez de Alba M Queralt E Losada A Puisac B Ramos F J Pié J .Could a patient with SMC1A duplication be classified as a human cohesinopathy?Clin Genet. 2014 May;85(5):446-51. doi: 10.1111/cge.12194. Epub 2013 Jun 17..PubMed PMID:23683030

3. Milá M, Ramos F, Tejada MI, Grupo AEGH/CIBERER.[Clinical guideline of gene FMR1-associated diseases: fragile X syndrome, primary ovarian insufficiency and tremor-ataxia syndrome].Med Clin (Barc). 2014 Mar 4;142(5):219-25. doi: 10.1016/j.medcli.2013.05.025. Epub 2013 Jul 25. Spanish. .PubMed PMID:23891128

4. Corton M, Avila-Fernandez A, Vallespín E, López-Molina MI, Almoguera B, Martín-Garrido E, Tatu SD, Imran Khan M, Blanco-Kelly F, Riveiro-Alvarez R, Brión M, García-Sandoval B, P.M. Cremers F, Carracedo A, Ayuso C. .Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.Ophthalmology. 2014 Jan;121(1):399-407. doi: 10.1016/j.ophtha.2013.08.028. Epub 2013 Oct 18..PubMed PMID:24144451

5. Varela M, García-Camba P, Gutiérrez Mosquera B, García Rosas S, Lorda I. .[Delayed development of multiple supernumerary teeth in a patient with juvenile myasthenia gravis treated with azathioprine].An Pediatr (Barc). 2014 Sep;81(3):200-1. doi: 10.1016/j.anpedi.2013.10.053. Epub 2013 Dec 4. Spanish. .PubMed PMID:24315416

6. Dal-Ré R, Katsanis N, Katsanis S, Parker LS, Ayuso C.Managing incidental genomic findings in clinical trials: fulfillment of the principle of justice.PLoS Med. 2014 Jan;11(1):e1001584. doi: 10.1371/journal.pmed.1001584. Epub 2014 Jan 14. .PubMed PMID:24453945

7. García Mónica Martínez Velez Camilo Fenollar-Cortés María Bustamante Ana Lorda-Sanchez Isabel Soriano-Guillén Leandro Trujillo-Tiebas María-José .Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia.Am J Med Genet A. 2014 Apr;164A(4):1075-8. doi: 10.1002/ajmg.a.36378. Epub 2014 Jan 23. .PubMed PMID:24458706

8. N. Alejandre, Ana Ruiz-Palacios, et. Al. .Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.Rheumatology (Oxford). 2014 Jun;53(6):1095-9..PubMed PMID:24501247

9. Alvarez-Satta M, Castro-Sánchez S, Pereiro I, Piñeiro-Gallego T, Baiget M, Ayuso C, Valverde D.Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.Clin Genet. 2014 Dec;86(6):601-2. doi: 10.1111/cge.12334. Epub 2014 Jan 26. .PubMed PMID:24611592

10. Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Val JD, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31..PubMed PMID:24697911

11. Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, Koenekoop RK, Laxer U, Gross M, Banin E, Sharon D.A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.J Med Genet. 2014 Jul;51(7):460-9. doi: 10.1136/jmedgenet-2014-102287. Epub 2014 Apr 29..PubMed PMID:24780881

12. Xie YA, Lee W, Cai C, Gambin T, Nõupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R.New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.Hum Mol Genet. 2014 Nov 1;23(21):5774-80. doi: 10.1093/hmg/ddu291. Epub 2014 Jun 10..PubMed PMID:24916380

13. Benaglio P, San Jose PF, Avila-Fernandez A, Ascari G, Harper S, Manes G, Ayuso C, Hamel C, Berson EL, Rivolta C.Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.Mol Vis. 2014;20:843-51..PubMed PMID:24959063

14. Tejada MI, Glover G, Martínez F, Guitart M, de Diego-Otero Y, Fernández-Carvajal I, Ramos FJ, Hernández-Chico C, Pintado E, Rosell J, Calvo MT, Ayuso C, Ramos-Arroyo MA, Maortua H, Milà M.Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.Biomed Res Int. 2014;2014:195793. doi: 10.1155/2014/195793. Epub 2014 May 28..PubMed PMID:24987673

15. Cabaleiro T, Ochoa D, López-Rodríguez R, Román M, Novalbos J, Ayuso C, Abad-Santos F.Effect of polymorphisms on the pharmacokinetics, pharmacodynamics, and safety of risperidone in healthy volunteers.Hum Psychopharmacol. 2014 Sep;29(5):459-69..PubMed PMID:25042870

16. Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R.Analysis of the ABCA4 genomic locus in Stargardt disease.Hum Mol Genet. 2014 Dec 20;23(25):6797-806. doi: 10.1093/hmg/ddu396. Epub 2014 Jul 31..PubMed PMID:25082829

17. Sánchez-Alcudia Rocío Cortón Marta Avila-Fernández Almudena Zurita Olga Tatu Sorina D Pérez-Carro Raquel Fernandez-San Jose Patricia Lopez-Martinez Miguel Ángel Del Castillo Francisco J Millan Jose M Blanco-Kelly Fiona García-Sandoval Blanca Lopez-Molina Maria Isabel Riveiro-Alvarez Rosa Ayuso Carmen .Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.Invest Ophthalmol Vis Sci. 2014 Oct 23;55(11):7562-71. doi: 10.1167/iovs.14-14938..PubMed PMID:25342620

18. Ayuso C Millan J M Dal-Re R .Management and return of incidental genomic findings in clinical trials.Pharmacogenomics J. 2015 Feb;15(1):1-5. doi: 10.1038/tpj.2014.62. Epub 2014 Oct 28..PubMed PMID:25348616

19. García-García Gema Aller Elena Jaijo Teresa Aparisi Maria J Larrieu Lise Faugère Valérie Blanco-Kelly Fiona Ayuso Carmen Roux Anne-Francoise Millán José M .Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.Mol Vis. 2014;20:1398-410..PubMed PMID:25352746

20. Riveiro-Álvarez Rosa Xie Yajing Angela López-Martínez Miguel-Ángel Gambin Tomasz Pérez-Carro Raquel Avila-Fernández Almudena López-Molina María-Isabel Zernant Jana Jhangiani Shalini Muzny Donna Yuan Bo Boerwinkle Eric Gibbs Richard Lupski James R Ayuso Carmen Allikmets Rando .New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.JAMA Ophthalmol. 2015 Feb;133(2):133-9. doi: 10.1001/jamaophthalmol.2014.4266..PubMed PMID:25356532

21. Blanco-Kelly Fiona Jaijo Teresa Aller Elena Avila-Fernandez Almudena López-Molina María Isabel Giménez Ascensión García-Sandoval Blanca Millán José M Ayuso Carmen .Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.JAMA Ophthalmol. 2015 Feb;133(2):157-64. doi: 10.1001/jamaophthalmol.2014.4498..PubMed PMID:25375654

22. Aparisi MJ, Aller E, Fuster-García C, García-García G, Rodrigo R, Vázquez-Manrique RP, Blanco-Kelly F, Ayuso C, Roux AF, Jaijo T, Millán JM.Targeted next generation sequencing for molecular diagnosis of Usher syndrome.Orphanet J Rare Dis. 2014 Nov 18;9:168. doi: 10.1186/s13023-014-0168-7..PubMed PMID:25404053

23. Fernandez-San Jose Patricia Blanco-Kelly Fiona Corton Marta Trujillo-Tiebas Maria-Jose Gimenez Ascension Avila-Fernandez Almudena Garcia-Sandoval Blanca Lopez-Molina Maria-Isabel Hernan Inma Carballo Miguel Riveiro-Alvarez Rosa Ayuso Carmen .Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.Acta Ophthalmol. 2015 Feb;93(1):e38-44. doi: 10.1111/aos.12486. Epub 2014 Nov 18..PubMed PMID:25408095

24. Almoguera Berta, He Sijie, Corton Marta, Fernandez-San Jose Patricia, Blanco-Kelly Fiona, López-Molina Maria, García-Sandoval Blanca, del Val Javier, Guo Yiran, Tian Lifeng, Liu Xuanzhu, Guan Liping, Torres J Rosa, Puig G Juan, Hakonarson Hakon, Xu Xun, Keating Brendan, Ayuso Carmen.Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9..PubMed PMID:25491489

25. Simón-Lorda P, Ayuso-García C. .Venta de Pruebas Genéticas de forma directa al consumidor: consideraciones históricas, éticas y jurídicasSpanish Journal of Critical Bioethics 2014.PubMed PMID:0

26. Bustamante-Aragones A., Perlado-Marina S., Trujillo-Tiebas MJ, Gallego-Merlo J., Lorda-Sanchez I., Rodriguez-Ramírez L., Linares C., Hernández C., Rodriguez de Alba M..Non-invasive prenatal diagnosis in the management of preimplantation genetic diagnosis pregnancies.Journal of Clinical Medicine 2014.PubMed PMID:0

27. García Mónica Martínez Velez Camilo Fenollar-Cortés María Bustamante Ana Lorda-Sanchez Isabel Soriano-Guillén Leandro Trujillo-Tiebas María-José .Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasiaJournal of Clinical Medicine Am J Med Genet A. 2014.PubMed PMID:0

Projects (2013)

1. "Estudio de las Distrofias de Retina autosómicas recesivas y otras: a) Caracterización clínica y molecular mediante nuevos abordajes metodológicos; b) Identificación de nuevas regiones candidatas".

Investigadora Principal Dra. C. Ayuso

Proyecto Intrasalud PS09/00459 (2010-2013)

2. CIBERER (CIBER de Enfermedades Raras)

Investigadora Principal: Carmen Ayuso

(FIS: CB06/07/0036) (2006-2013)

3. "Nuevos genes y mecanismos en Distrofias de Retina. Aplicación de secuenciación de exoma completo y biología de sistemas, estudios funcionales en modelo animal y caracterización clínica"

Investigador Principal y Coordinador de grupos Dra. Carmen Ayuso

Proyecto de Acciones Cooperativas y Complementarias Intramurales (ACCI) (CIBERER-ISCIII) (01/01/2013 - 31/12/2013)

4. "Estudio de Distrofias de Retina ligadas al Cromosoma X y otras DR: a) Caracterización clínica y molecular mediante nuevos abordajes metodológicos; b) Identificación de nuevas regiones candidatas".

Investigador Principal Dra. Carmen Ayuso

Fundaluce 2011 (22/09/2011 - 22/09/2014)

5. "Caracterización clínica y molecular en familias españolas con Distrofias de Retina Autosómicas Dominante mediante nuevos abordajes metodológicos".

Investigador Principal Dra. Carmen Ayuso

Proyecto ONCE de Investigación 2012 (25/06/2012 - 25/06/2013)

6. "Nuevos abordajes metodológicos para la caracterización clínica y molecular en familias españolas con Distrofia de Retina Autosómica Dominante".

Investigador Principal Dra. Carmen Ayuso

Proyecto ONCE de Investigación 2013 (25/06/2013 hasta el 25/06/2014)

7. "Genética y Farmacogenética del Trastorno por Déficit de Atención e Hiperactividad (TDAH) en niños de la población española".

Investigador Principal Dra. Carmen Ayuso

Fundación Alicia Koplowitz Ayudas a la Investigación en Psiquiatría de la infancia y adolescencia y enfermedades cerebrales de comienzo temprano (26/10/2011 - 31/12/2013)

8. "Abordaje de nuevos diagnóstico genéticos fetales en sangre materna".

Investigadora Principal Dra. Marta Rodríguez de Alba.

PI11/01014 (2012-2014) FIS Proyecto de Investigación en Salud (ISCIII)

9. "Genetic Testing in Europe- Network for the further development, harmonization, validation and standardization of services".

Investigador principal: Dra. Marta Rodríguez de Alba.

Topic: Health 2010.1.2-3 "Harmonization, validation and standardization in genetic testing" (2011-2013). Project number: 261469

10. "Towards a better understanding of the genetic basis of congenital ocular malformations using high-throughput genomic technologies".

Investigador Principal Dra. Marta Cortón

Proyecto Miguel Servet 2013 (01/01/2013 - 31/12/2015)

11. "Diagnóstico genético prenatal no invasivo, en sangre materna, de enfermedades raras".

Investigador Principal: Dra. A. Bustamante Aragonés.

Fundación Mutua Madrileña.(01/06/2013-31/05/2016)

12. "Fracturas osteoporóticas en varones: Asociación de polimorfismos genéticos y densidad mineral ósea".

Investigador Principal: Dr. Manuel Díaz Curiel.

Investigadora: Dra. María José Trujillo Tiebas

30135/004 Fundación Mapfre

13. "Caracterización neurobiológica de la fase preclínica del Alzheimer".

Investigador Principal: Dr. Rafael Dal-Ré.

Investigadora: Dra. Fiona Blanco Kelly

PI12/00326 (2013-2015) FIS Proyecto de Investigación en Salud (ISCIII)

Clinical trials and Observational studies (2013)

1. Clinical trial: "Estudio aleatorizado, doble ciego, de 12 - semanas, de grupos paralelos y controlado con placebo, de la eficacia y seguridad de RO4917523 en pacientes con Síndrome X Frágil" (NºEUDRACT: 2011-004349-42 Clinical trial Fase II Multicéntrico).

Investigador Principal: C. Ayuso

Hoffmann-La Roche Inc (ECO7 NP-27936) (02/10/2012-02/10/2013)