Members

Group leader :

Xavier Estivill

Staff scientist :

Eulàlia Martí

Postdoctoral Fellows :

Mariona Bustamante (CREAL), Georgia Escaramis (CIBERESP), Aparna Prasad, Raquel Rabionet, Veronica Venturi (since June)

PhD Students :

Laura Domènech, Joan Pallarés, Marta Vives, Daniel Sánchez (since April)

Technicians :

Marta Morell, Anna Puig, Yaris Sarria, Mª Teresa Zomeño

Selected Publications

Vilahur N, Bustamante M, Morales E, Motta V, Fernandez MF, Salas LA, Escaramis G, Ballester F, Murcia M, Tardon A, Riaño I, Santa-Marina L, Ibarluzea J, Arrebola JP, Estivill X, Bollati V, Sunyer J, Olea N.
“Prenatal exposure to mixtures of xenoestrogens and genome-wide DNA methylation in human placenta.”
Epigenomics, 8(1):43-54 (2015). Epub 2015 Dec 18.

Pantano L, Friedländer MR, Escaramís G, Lizano E, Pallarès-Albanell J, Ferrer I, Estivill X, Martí E.
“Specific small-RNA signatures in the amygdala at premotor and motor stages of Parkinson’s disease revealed by deep sequencing analysis.”
Bioinformatics, pii: btv632 (2015). [Epub ahead of print]

Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA.
“Mutations in DCHS1 cause mitral valve prolapse.”
Nature, 525(7567):109-13 (2015).

Puente XS, Beà S, Valdés-Mas R, Villamor N, Gutiérrez-Abril J, Martín-Subero JI, Munar M, Rubio-Pérez C, Jares P, Aymerich M, Baumann T, Beekman R, Belver L, Carrio A, Castellano G, Clot G, Colado E, Colomer D, Costa D, Delgado J, Enjuanes A, Estivill X, Ferrando AA, Gelpí JL, González B, González S, González M, Gut M, Hernández-Rivas JM, López-Guerra M, Martín-García D, Navarro A, Nicolás P, Orozco M, Payer ÁR, Pinyol M, Pisano DG, Puente DA, Queirós AC, Quesada V, Romeo-Casabona CM, Royo C, Royo R, Rozman M, Russiñol N, Salaverría I, Stamatopoulos K, Stunnenberg HG, Tamborero D, Terol MJ, Valencia A, López-Bigas N, Torrents D, Gut I, López-Guillermo A, López-Otín C, Campo E.
“Non-coding recurrent mutations in chronic lymphocytic leukaemia.”
Nature, 526(7574):519-24 (2015).

Hor H, Francescatto L, Bartesaghi L, Ortega-Cubero S, Kousi M, Lorenzo-Betancor O, Jiménez-Jiménez FJ, Gironell A, Clarimón J, Drechsel O, Agúndez JA, Kenzelmann Broz D, Chiquet-Ehrismann R, Lleó A, Coria F, García-Martin E, Alonso-Navarro H, Martí MJ, Kulisevsky J, Hor CN, Ossowski S, Chrast R, Katsanis N, Pastor P, Estivill X.
“Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.”
Hum Mol Genet, 24(20):5677-86 (2015).

Summary

Our lab performs experimental and bioinformatics research in medical genomics. The group explores how different types of genetic variants contribute to human diseases, mostly neuropsychiatric, neurodegenerative and inflammatory disorders. The interaction of genetic factors with environmental conditions is one of the main areas of research of the group and is addressed by integrating epidemiological and clinical data with genetics and epigenetics information. We study very well characterized cohorts of patients and use high-throughput genomic platforms and functional studies, including longitudinal investigations of patients at different time-points and cohorts in which exposure to environment has been monitored. Different activities of the group are coordinated towards translational and precision medicine.

Research projects

Genetic variants and liability to common traits and complex disease
Longitudinal and comprehensive analysis of mental diseases
Profiles of non-coding RNAs in neurodegenerative disorders
Environmental modulators of genetic factors and epigenetics in human disease

Genomics and Disease

Bioinformatics and Genomics

Summary

Research projects