Translational Genomics and Bioinformatics
Excellent research is already a standard in several biomedical areas in Ospedale San Raffaele. By taking advantage of the excellent clinical environment coupled to the outstanding basic research carried out at Ospedale San Raffaele, the center will allow the Institute as a whole to advance towards integrative translational research. Biomedicine is quickly transforming the diagnostic and cure-delivering processes, which, we strongly believe, will be further enhanced by both –omics and bioinformatics methodologies and the complex network analyses that can be derived from them.
Recent strategic investments have allowed the Center to acquire state of the art laboratory instruments and IT infrastructure. Due to its transversal nature the Center also encompasses research groups which have a secondary affiliation to the Center, i.e. groups which are affiliated to a research division but which, owing to the nature of their research line, interact closely with the Center.
The Center for Translational Genomics and Bioinformatics strongly supports as well as initiates novel, interdisciplinary research that will project IRCCS Ospedale San Raffaele towards tackling disease through -omics driven translational approaches. The Center acts as a catalyst for innovative research projects by complementing existing research lines across the Institute with high throughput technologies, quantitative methods, and powerful data mining techniques. The goal of the center is to produce original high-impact research in the fields of translational -omics and bioinformatics, to enrich and enhance research occurring within other divisions and departments with these disciplines, as well as to foster novel collaborative projects across the Institute.
For more information about the research activities carried out by the center click here.
The Center offers high specialized services both for internal and external researchers. These services can be divided into sequencing protocols (genome sequencing, RNA-seq, sequencing of synthesis nucleic acids, MeDIP-seq, BS-seq, targeted re-sequencing) and bioinformatics analysis (genome profiling, transcriptome profiling, epigenome profiling, functional analysis and experimental designs). Among the services, the new Illumina Mouse Chip Replacement.
For the list of services and more information click here.
Giovanni Tonon, Director
|Fabio Simeoni, Technician
Alberto Trovato, Technician
Ivan Molineris, Bioinformatics group coordinator
Gabriele Bucci, Postdoc fellow
Maria Rosaria De Filippo, Postdoc fellow
Jose Manuel Garcia Manteiga, Postdoc fellow
Michela Riba, Postdoc fellow
Giulia Barbiera, PhD student
Stefania Merella, Fellow
Alexandre Nadin, Fellow
- Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma. Nat Genet. 2014. 46(2):176-81; Okosun J, Bödör C, Wang J, Araf S, Yang CY, Pan C, Boller S, Cittaro D, Bozek M, Iqbal S, Matthews J, Wrench D, Marzec J, Tawana K, Popov N, O’Riain C, O’Shea D, Carlotti E, Davies A, Lawrie CH, Matolcsy A, Calaminici M, Norton A, Byers RJ, Mein C, Stupka E, Lister TA, Lenz G, Montoto S, Gribben JG, Fan Y, Grosschedl R, Chelala C, Fitzgibbon J.
- Targeted transgene integration overcomes variability of position effects in zebrafish. Development. 2014. 141(3):715-24; Roberts JA, Miguel-Escalada I, Slovik KJ, Walsh KT, Hadzhiev Y, Sanges R, Stupka E, Marsh EK, Balciuniene J, Balciunas D, Müller F.
- Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Hum Mol Genet. 2014; Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC.
- Overexpression of facioscapulohumeral muscular dystrophy region gene 1 causes primary defects in myogenic stem cells. J Cell Sci. 2013. 126(Pt 10):2236-45; Xynos A, Neguembor MV, Caccia R, Licastro D, Nonis A, Di Serio C, Stupka E, Gabellini D.
- An autoinflammatory neurological disease due to interleukin 6 hypersecretion. J Neuroinflammation. 2013. 10:29; Salsano E, Rizzo A, Bedini G, Bernard L, Dall’olio V, Volorio S, Lazzaroni M, Ceccherini I, Lazarevic D, Cittaro D, Stupka E, Paterra R, Farina L, Savoiardo M, Pareyson D, Sciacca FL.
- A strong anti-inflammatory signature revealed by liver transcription profiling of Tmprss6-/- mice. PLoS One. 2013. 8(7):e69694; Riba M, Rausa M, Sorosina M, Cittaro D, Garcia Manteiga JM, Nai A, Pagani A, Martinelli-Boneschi F, Stupka E, Camaschella C, Silvestri L.
- Social Epigenetics and Equality of Opportunity. Public Health Ethics. 2013. 6(2):142-153; Loi M, Del Savio L, Stupka E.
- Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science. 2013. 341(6148):1233158; Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L.
- ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain. 2013. 136(Pt 10):3096-105; Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT.
- Phylogenomic analyses elucidate the evolutionary relationships of bats. Curr Biol. 2013. 23(22):2262-7; Tsagkogeorga G, Parker J, Stupka E, Cotton JA, Rossiter SJ.