GROUP LEADER:
Eulàlia Martí (acting Group Leader)
POSTDOCTORAL FELLOWS:
Mariona Bustamante (ISG Global), Georgia Escaramis (CIBERESP), Raquel Rabionet (until March), Veronica Venturi
PhD STUDENTS:
Laura Domènech, Joan Pallarés, Marta Vives
TECHNICIANS:
Marta Morell, Anna Puig (until April), Mª Teresa Zomeño
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.
Pagès A, Dotu I, Pallarès-Albanell J, Martí E, Guigó R, Eyras E.
“The discovery potential of RNA processing profiles.”
Nucleic Acids Res. [Epub ahead of print]
Llorens F, Thuene K, Andres-Benito P, Tahir W, Ansoleaga B, Hernandez-Ortega K, Marti E, Zerr I, Ferrer I.
“MicroRNA Expression in the Locus Coeruleus, Entorhinal Cortex, and Hippocampus at Early and Middle Stages of Braak Neurofibrillary Tangle Pathology”
J Mol Neurosci, 63(2):206-21 (2017).
Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh AH, Philip H, Sophie H, Matthew EK, Petra K, Bartha M, Krischer JP, Macek, M, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham P-C, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner HB, Michael J, Lochmueller H.
“International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.”
Am J Hum Genet, 100(5):695-705 (2017).
Zapata L, Susak H, Drechsel O, Friedlander MR, Estivill X, Ossowski S.
“Signatures of positive selection reveal a universal role of chromatin modifiers ascancer driver genes.”
Sci Rep, 7(1):13124 (2017.
Ombrello MJ, Arthur VL, Remmers EF, Hinks A, Tachmazidou I, Grom AA, FoellD, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rosen-Wolff A, Minden K, Tenbrock K, Demirkaya E, Cobb J, Baskin E, Signa S, Shuldiner E, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A, British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group, In, Langefeld CD, Thompson S, Zeggini E, Kastner DL, Woo P, Thomson W.
“Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.”
Ann Rheum Dis, 76(5):906-913 (2017).
