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Cytogenetics and molecular genetics  

Laboratory of cytogenetics and molecular genetics

The research activity of Paola Riva’s team employs skills and experience of several years in the field of human genetics, applying cytogenetics and molecular genetics to the study of the genome structure, sequence analysis of single genes and of their expression at both RNA and protein level, with the aim of elucidating the pathogentic mechanisms underlying specific genetic diseases or the development of specific tumors. More recently an interest on post-tanscriptional regulation of gene expression field lead to acquire new skills on functional approaches with the aim of studying the pathogenetic role of specific genes and the molecular mechanisms involved in their regulation.


Main research lines

The current research activity of Paola Riva concerns the following fields:

Genetics of human Mendelian diseases

- Genotype-phenotype correlation in NF1 microdeletion syndrome: identification of candidate gene for cardiovascular and cognitive disorders
- Noonan Syndrome: identification of new pathogenetic genes and variants of modifier genes


Post-transcriptional regulation of gene expression

- Study of post-transcriptional regulation of CDK5R1 gene involved in central nervous system development and in neurodegenerative disorders.


Cancer Genetics

- Role of FAS/FASL pathway in chordoma onset and in zebrafish notochord development and  identification of prognostic markers and  pharmacological targets
- Imatinib for the treatment of plexiform neurofibromas in NF1 patients – Identification of specific genetic lesions and gene expression profiles targeting dermal and/or plexiform neurofibromas
- Identification of pathogenetic mutations in familial breast cancer, Lynch Syndrome and familial adenomatous polyposis


Diagnostic activity

Paola Riva Group performs  molecular genetics diagnosis of NF1 microdeletion syndrome Noonan Syndrome and familial tumors such as breast cancer,  Lynch syndrome and adenomatosus familial polyposis, at the Cytogenetics and Molecular Genetics Lab (Department of Medical Biotecnology and Translational Medicine), certified by Regione Lombardia. A highly qualified service of pre-natal and post-natal cytogenetics is provided. The DNA test for legal purposes is also carried out.



Project RF 2008 – Bando Malattie Rare “IMATINIB FOR THE TREATMENT OF PLEXIFORM NEUROFIBROMAS IN NF1 PATIENTS” – Partner Università degli Studi di Milano Unit PI Paola Riva, PI Leader Institution Istituto Neurologco Carlo Besta Milano – PI Marika Eoli Istituto



Main instrumentation available to the group

Fluorescent microscope Leitz DM RB (Leica)
Sequence Analyzer AB 3130 (Life Technologies)
Typhoon 9200 (Molecular Dynamics)
iQ5 Real Time PCR detection system (Biorad)
Nanodrop, spettrofotometroper (Celbio)
Biofotometro (Eppendorf)
DHPLC Nucleic Acid Fragment Analysis System (Transgenomic)


Group composition

The Research Group is composed by Paola Riva (Associate Professor, responsable of the Deprtment Building of via Viotti 3/5, Director of the cytogenetics and molecular genetics’  Laboratory “Service for the diagnosis and study of genomics abnormalities”), Luca Ferrari (PhD fellow), Giorgio Portera (post lauream Student in Medical Genetics), Emanuela Martinoli (Biologist – Cytogeneticist), Marinella Volontè (Technician), Ludovica Volpi (Biologist Technician).


Paola Riva  - e-mail: paola.riva@unimi.it
Skype: paola.riva0
Tel. 02503 15862



Dipartimento di Biotecnologie Mediche e Medicina Traslazionale via Viott3/5 20133 Milano



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