Who we are
Scientific Lead:
Prof.ssa Valeria Barili, RTD
Affiliating Staff:
- Prof. Antonio Percesepe, Director UO Medical Genetics, antonio.percesepe@unipr.it, 0521.704462/033057
- Prof.ssa Valeria Barili, RTD Researcher, valeria.barili@unipr.it, 0521.033057
- Doctor Vera Uliana, Hospital Medical Executive, vuliana@ao.pr.it, 0521.704464
- Dr. Davide Martorana, Hospital Biologist Resident, dmartorana@ao.pr.it, 0521.704463
- Dr. Patrizia Caggiati, Hospital Biologist Resident, pcaggiati@ao.pr.it, 0521.704463.
- Dr. Enrico Ambrosini, Medical Genetics Resident, enrico.ambrosini@studio.unibo.it, 0521.704464
- Dr. Maria Lofiase, Biomedical laboratory techniques health technician, mlofiase@ao.pr.it, 0521.704467
- Dr. Michele Rignanese, Biomedical laboratory techniques health technician, mrignanese@ao.pr.it, 0521.704467
- Dr. Silvia Pasquali, Biomedical laboratory techniques health technician, spasquali@ao.pr.it, 0521.704467
- Claudia Bocchia, administrative assistant, cbocchia@ao.pr.it, 0521.704467
- Giovanna Duca, social and health worker, 0521.704467
Contact information: Valeria Barili - valeria.barili@unipr.it - 0521 033057
Where we are
First floor pavilion 15, Cattani, Azienda Ospedaliero-Universitaria di Parma, via Gramsci 14
What we do
The Medical Genetics Laboratory has a well-established tradition of biomedical research in the various areas pertaining to the discipline and in support of other topics, such as understanding the biological basis of cancer. Currently, the main research topics are:
- clinical, both in familial and sporadic cases;
- Disease genotype-phenotype correlation analysis;
- Mutational analysis and mechanisms of action in neurofibromatosis;
- Whole exome sequencing for the etiologic diagnosis of undiagnosed rare diseases characterized by intellectual disability and fetuses with complex malformation patterns;
- Pre-natal diagnosis of Mendelian diseases.
Main methodologies applied:
- Nucleic acid extraction
- analysis of DNA mutations and polymorphisms
- Nucleic acid amplification
- PCR Real Time
- MLPA
- Sanger sequencing
- Next generation sequencing (NGS).
Main Equipment:
- Next Generation MiSeq Illumina
- Next Generation NextSeq500dX Illumina
- Applied Biosystems Sanger Sequencer
- Microarray Agilent
- PCR Real Time Roche 480
- Termocycler
- Agilent 4200 TapeStation System for NGS library quantification
- Nucleic acid and protein extractor Maxwell 16 system Promega
- Nanondrop One Thermo Scientific.
Keywords
Genomics, molecular genetics, next-generation sequencing, rare diseases, genotype/phenotype.
