Human Health Genomics
The research area supports the research activity of clinicians and researchers by applying and developing cutting edge Next Generation Sequencing technologies (NGS) and genome bioinformatics analysis.
The Human Health Genomics area currently works at several projects:
- Multicentric study, sponsored by Alliance Against Cancer, in which tumour samples from patients affected by non-small cell lung cancer are sequenced by both NGS and standard molecular techniques, to evaluate if NGS can replace diagnostic techniques currently approved by SSN;
- Identification of markers of genetic predisposition to lung cancer development in women affected by breast cancer, in collaboration with Dr. Simona Coco (IRCSS Policlinico San Martino, Genova);
- Identification of markers of genetic predisposition to non-melanoma skin cancer development in kidney-transplanted patients, in collaboration with Prof. Paola Savoia (Università del Piemonte Orientale);
- Identification of mechanisms at the basis of metastatic breast tumours, in collaboration with Dr. Roberto Gherzi (IRCCS Policlinico San Martino, Genova);
- Study of relapse mechanisms and of transcriptomic profiles in Acute Myeloid Leukemia (AML), in collaboration with the laboratory of “Immunogenetica, Genomica e Immunobiologia delle leucemie” (Dr. Luca Vago) and with “U.O. di Ematologia e Trapianto Midollo Osseo” (Prof. Fabio Ciceri). Besides, a large cohort of patients has been analysed by a targeted gene panel containing about 150 genes involved in AML and other myeloid disorders;
- Design of a targeted gene panel containing 11 genes recurrently mutated in chronic lymphocytic leukemia (CLL), in collaboration with Prof. Paolo Ghia (Laboratory of B cell neoplasia), to evaluate clonal evolution in patients under ibrutinib treatment.
Della Torre E, Bozzalla-Cassione E, Sciorati C, Ruggiero E, Lanzillotta M, Bonfiglio S, Mattoo H, Perugino CA, Bozzolo E, Rovati L, Arcidiacono PG, Balzano G, Lazarevic D, Bonini C, Falconi M, Stone JH, Dagna L, Pillai S, Manfredi AA. A CD8α- Subset of CD4+ SLAMF7+ Cytotoxic T Cells is Expanded in Patients with IgG4-Related Disease and Decreases following Glucocorticoid Treatment. Arthritis Rheumatol. 2018, doi: 10.1002/art.40469.
Sala, E., Biavasco, F., Bucci, G., Toffalori, C., Zanotti, L., Biancolini, D., Antonini, E., Carrabba, M.G., Gentner, B., Tresoldi, C. and Bernardi, M. Profiling The Mutational Landscape Of Acute Myeloid Leukemia At Relapse After Chemotherapy And Allogeneic Hematopoietic Stem Cell Transplantation. Haematologica 2017, Vol. 102, Pp. 208-209.
Vanni I, Coco S, Bonfiglio S, Cittaro D, Genova C, Biello F, Mora M, Rossella V, Dal Bello MG, Truini A, Banelli B, Lazarevic D, Alama A, Rijavec E, Barletta G, Grossi F. Whole exome sequencing of independent lung adenocarcinoma, lung squamous cell carcinoma, and malignant peritoneal mesothelioma: A case report. Medicine (Baltimore).2016, 95:e5447.
Bonfiglio S, Vanni I, Rossella V, Truini A, Lazarevic D, Dal Bello MG, Alama A, Mora M, Rijavec E, Genova C, Cittaro D, Grossi F, Coco S. Performance comparison of two commercial human whole-exome capture systems on formalin-fixed paraffin-embedded lung adenocarcinoma samples. BMC Cancer. 2016, 30;16:692.
Puppo, M., Bucci, G., Rossi, M., Giovarelli, M., Bordo, D., Moshiri, A., Gorlero, F., Gherzi, R. and Briata, P. miRNA-Mediated KHSRP Silencing Rewires Distinct Post-transcriptional Programs during TGF-β-Induced Epithelial-to-Mesenchymal Transition. Cell Reports, 2016,16(4), pp.967-978.
Garcia-Manteiga JM, Bonfiglio S, Folladori L, Malosio ML, Lazarevic D, Stupka E, Cittaro D, Meldolesi J. REST-Governed Gene Expression Profiling in a Neuronal Cell Model Reveals Novel Direct and Indirect Processes of Repression and Up-Regulation. Front Cell Neurosci. 2015, 9:438. eCollection 2015.
Garcia-Manteiga JM, Bonfiglio S, Malosio ML, Lazarevic D, Stupka E, Cittaro D, Meldolesi J. Epigenomics of Neural Cells: REST-Induced Down- and Upregulation of Gene Expression in a Two-Clone PC12 Cell Model. Biomed Res Int. 2015:202914.
Oliveira, G., Casera, C., Bucci, G., Toffalori, C., Garcia-Manteiga, J.M., Camisa, B., Lazarevic, D., Crucitti, L., Zito, L., Carrabba, M. and Bernardi, M. An Innovative Humanized Mouse Model To Investigate The Interplay Between Immune System And Acute Myeloid Leukemia In Allogeneic Hsct. In Haematologica, 2015, Vol. 100, Pp. 183-184.
Carrera P, Di Resta C, Volonteri C, Castiglioni E, Bonfiglio S, Lazarevic D, Cittaro D, Stupka E, Ferrari M, Somaschini M; BPD and Genetics Study Group. Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study. Clin Chim Acta. 2015, pii: S0009-8981(15)00007-8.
Smedley, D., Haider, S., Durinck, S., Pandini, L., Provero, P., Allen, J., Arnaiz, O., Awedh, M.H., Baldock, R., Barbiera, G. and Bardou, P. The BioMart community portal: an innovative alternative to large, centralized data repositories. Nucleic Acids Research, 2015, 43, pp.W589-W598.
Giovarelli, M., Bucci, G., Ramos, A., Bordo, D., Wilusz, C.J., Chen, C.Y., Puppo, M., Briata, P. and Gherzi, R. H19 long noncoding RNA controls the mRNA decay promoting function of KSRP. Proceedings of the National Academy of Sciences of the United States of America, 2014, 111(47), pp.E5023-E5028
Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavičiūtė D, Williams J, Harold D et al. Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One. 2012, 7:e51292.