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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

E-mail Questo indirizzo email è protetto dagli spambots. È necessario abilitare JavaScript per vederlo.

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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