Laboratory of Cytogenetics and Molecular Genetics - University of Perugia
Head
Mecucci Cristina
Position Full Professor in Hematology
University of Perugia
Department of Medicine, Section of Hematology
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Telephone number +39 075 578 -3808 -2207
Fax +39 075 578 3691
Address CREO, Centro Ricerca Emato-Oncologica, Piazzale Menghini 9, 06124, Perugia, Italy
Staff
La Starza Roberta
Position Researcher
Department of Medicine
University of Perugia
Crescenzi Barbara
Position Biologist
Department of Hematology, Oncology and Gastroenterology
Azienda Ospedaliera Perugia
Romoli Silvia
Position Technician
Department of Hematology, Oncology and Gastroenterology
Azienda Ospedaliera Perugia
Beacci Donatella
Position Technician
Department of Hematology, Oncology and Gastroenterology
Azienda Ospedaliera Perugia
Valentina Pierini
Position Technician
Department of Hematology, Oncology and Gastroenterology
Azienda Ospedaliera di Perugia
Paolo Gorello
Position Researcher
Department of Medicine
University of Perugia
Matteucci Caterina
Position Biologist
Department of Hematology, Oncology and Gastroenterology
Azienda Ospedaliera di Perugia
Valeria Nofrini
Position Post-Doc
Department of Medicine
University of Perugia
Danika Di Giacomo
Position Post-Doc
Department of Medicine
University of Perugia
Lema Fernandez Anair Graciela
Position Post-Doc
Department of Medicine
University of Perugia
Pellanera Fabrizia
Position Post-Doc
Department of Medicine
University of Perugia
Pierini Tiziana
Position PhD Student
Department of Medicine
University of Perugia
Di Battista Valeria
Position PhD Student
Department of Medicine
University of Perugia
Quintini Martina
Position PhD Student
Department of Medicine
University of Perugia
Moretti Martina
Position Biotechnologist
Department of Hematology, Oncology and Gastroenterology
University of Perugia
Arniani Silvia
Position Biologist
Department of Hematology, Oncology and Gastroenterology
University of Perugia
Spaccini Alice
Position Collaborator
Department of Medicine
University of Perugia
RESEARCH
Our Unit is specialized in the genome analysis of malignant cells using molecular cytogenetics and other advanced technologies (FISH, SNPa, DHPLC, NGS) integrating conventional cytogenetics for precise diagnosis. Our aim is to search for new molecular events related to distinct clinical and/or pathological findings. We also apply large molecular screening by RT-PCR for the characterization and monitoring of emerging fusion genes. New genes are cloned for further functional studies. Cases are carefully characierized at clinical, hematological and immunological level, according to the guidelines of WHO (World Health Organization) Classification for malignant hemopathies. Structural rearrangements are investigated by using FISH , SNPa, RACE-PCR, and RT-PCR for candidate genes. Moreover, we perform mutational analysis by both direct sequencing and DHPLC and/or NGS. Our research is also focusing on epigenetic events underlying specific subgroups of leukemia.
We are involved in the characterization of familial hematological malignancies. Bone marrow genetic syndromes such as Fanconi Anemia (FA), Congenital Dyskeratosis (DC), telomeropathies and predisposing germline mutations are characterized by a high risk of developing hematologic neoplasms, predominantly Myelodysplastic Syndromes and Acute Myeloid Leukemia.
Cytogenetic and molecular diagnosis is made also in malignant solid tumors, particularly gliomas and soft tissue tumors.
TECHNOLOGIES
Conventional Cytogenetics
Generation and validation of genomic FISH probes
Interphase and Metaphase FISH
Q-FISH
Multicolor FISH
Single cell pheno-genotyping (FICTION)
Mutational analysis: DHPLC and sequencing
Targeted resequencing
Affymetrix technology (SNPs)
PCR, RT-PCR, RACE-PCR, quantitative PCR
Multiplex Enhanced Reduced Representation Bisulphite Sequencing (mERRBS)
Gene cloning
EQUIPMENT
Karyotyping Systems, Vysis,Metasystem, Applied Imaging
Automated Metaphase Finder (Applied Spectral Imaging)
MultiFISH, Metasystem
Fluorescence Microscopes
Zeiss imager z2 fluorescence microscope (ISIS, Metasystem)
ThermoBrite Elite (Leica Biosystems)
Microarray Scanner AXON B4000
Affymetrix
DHPLC Transgenomic
ABI 3500, Applied Biosystems
MiSeq, Illumina
Hiseq, Illumina
IonTorrent,Thermo Fisher
LightCycler 480 II, Roche (Real-Time PCR)
GloMax 96 Microplate Luminometer, Promega
Qubit Fluorometric Quantitation, Thermo Fisher
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