Center for Translational Genomics and Bioinformatics

Human Health Genomics

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Area coordinator

Silvia Bonfiglio

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Area coordinator

Gabriele Bucci

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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.

Research activity

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.