PhD in Biomedical Sciences and Biotechnology

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CURRICULUM VITAE MIRIAM PACETTI

Date and place of birth: 31/08/1991, Vallo della Lucania (SA)-Italy Nationality: Italian

Affiliation and official address: via Risorgimento,11 Cervignano del Friuli (UD)
Telephone: +39 342 8486739 (lab) +39-040-3757316
e-mail: miriam.pacetti@icgeb.org

EDUCATION
2013: BS degree in Biotechnology, three years, summa cum laude (University of Trieste)
2015: MS degree in Genetics, two years (University of Paris Diderot-Paris VII)

2015: MS degree in Functional Genomics, two year, 110/110 (University of Trieste)

CAREER/EMPLOYMENT
2015 to present: PhD in biomedical sciences and biotechnology at RNA biology Group of the ICGEB of Trieste (University of Ferrara)

RESEARCH EXPERIENCES
1) Bachelor Degree Internship (February 2013 - July 2013)

Anna Savoia Research Group, Clinical Department of Science of Reproduction and Development, Burlo Garofolo Children’s Hospital of Trieste, Italy

Involved with Next Generation Sequencing (NGS) technologies application for the validation of Ion Torrent sequencing method and for the improvement of Fanconi Anemia diagnonis. NGS were applied to bypass complex algorithms of diagnosis caused by the genetic heterogeneity of the disease and the complexity of the phenotypic aspects that determine a relatively high frequency of patients without diagnosis. Techniques used are as follow

· Ion Torrent sequencing technology

· Bionformatic tools for Ion Torrent data processing

· Cell culture

· DNA extraction

· PCR

Sector Human genetics, pathophysiology and diagnosis of blood disorders

2) Master Degree Internship (January 2015 – July 2015)

T. Bienvenue and P. Billuart Research Group, Department of Genetics, Reproduction and Cancer, Institute Cochin, Paris

The project aims to identify new causative genes of psychiatric and neurologic diseases including unsolved intellectual disabilities (ID), autistic syndromes and epileptic encephalopathies. The work is based on many studies on familial forms. Initially, phenotypically homogeneous cohorts of patients is studied by CGH chip, thereby highlighting areas subjected to a change in the number of copies. Candidate genes are identified within these areas, and then screened by next generation sequencing in the other patients in the cohort. If no variations in copies number are found, whole exome sequencing analysis are performed. The detection of rare variants in candidate genes is followed by the functional study of the effects of inactivation of these genes or the transfection of wild or mutated forms on the neuronal morphology in cortical neurons. The project involves the use of the following techniques

· Exome sequencing technology

· Illumina sequencing technology

· Bioinformatics tools to process exome and Illumina data

· PCR

· Cell culture

· Immunofluorescence

· Transfection

Sector Human genetics, pathophysiology and therapy of mental diseases

3) October 2015- present: PhD in biomedical sciences and biotechnology

F.E. Baralle Researh Group, RNA Biology Group, ICGEB Trieste

95% of Amyotrophic Lateral Sclerosis (ALS) and more than 40% of Frontotemporal Lobar Degeneration (FTLD) cases are characterized by imbalance between generation and degradation of misfolded TDP-43 protein, resulting in the formation of nuclear/cytoplasmic inclusions in affected neuronal cells. The PhD research project aims to gain better insight into the mechanism behind the TDP-43 age related drop in protein levels and thus identify new field of therapeutic intervention focused on the rescue of TDP-43 expression. The project involves the use of the following techniques

· Western blot

· RNA and DNA extraction

· PCR and qRT-PCR

· Cell cultures

· Cell transfection

· Cell transformation

· Cell silencing

· Molecular cloning

· Mouse model

· Bisulfite methylation analysis

· In vitro methylation

· RNA seq

AWARDS
Member of the Double Degree Program between the Universities of Paris VII and Trieste - July 2014

Scholarship awarded to six student each year. The students are to continue the second year of the master in the prestigious istitution of the University of Paris VII Diderot as part of the Master et Magistere de Genetique, the international master course in genetics. These students are given the opportunity to graduate in both the university of origin and the University of Paris VII, attending two degrees.