Phd in HUMAN BIOLOGY AND MEDICAL GENETICS

email: marco.lucarelli@uniroma1.it
phone: 0649973876
building: Primo Padiglione, secondo piano; AOU Policlinico Umberto I
room: 1

EDUCATION AND TRAINING

Dates

1992. Degree of Specialist in Clinical Pathology, cum laude, awarded by the Medical Faculty of the Sapienza University of Rome, Italy.
1986. Graduation in Biological Sciences, cum laude, awarded by the Science Faculty of the Sapienza University of Rome, Italy.
1986 – 1999. Research fellow, contractor and assistant researcher at:
- Dept. of Cellular Biotechnologies and Hematology of the Medical Faculty, Sapienza University of Rome;
- Dept. of Biopathology of the Medical Faculty, University of Rome “Tor Vergata”;
- Dept. of Genetics and Molecular Biology of the Science Faculty, Sapienza University of Rome.

Languages

Mother tongue: Italian.
Other languages: English (Understanding - listening C1, reading C2; Speaking - spoken interaction C1, spoken production C2; Writing C2). French (school level).


EMPLOYMENT AND RESEARCH EXPERIENCE

OCCUPATIONAL FIELD

Clinical biochemistry and clinical molecular biology (SSD BIO/12)


WORK EXPERIENCE

2005 – at present. Associate Professor (with National Scientific Qualification – ASN – to full professor) of Clinical Biochemistry and Clinical Molecular Biology of the Medical Faculty of the Sapienza University of Rome (from 2018 November 1st at Dept. of Experimental Medicine; up to 2018 October 31st at Dept. of Cellular Biotechnologies and Hematology).
2018 June 1st – at present. Head of the Central Laboratory of the Policlinico Umberto I University Hospital (UOS Laboratorio Centrale).
2009 – at present. Member of the Italian Pasteur Institute.
2017 – at present. President of a course of laboratory medicine (Medicine and Surgery degree).
2016 – at present. President of a course of laboratory, molecular and imaging diagnostics (Medical Biotechnologies degree).
2014 – at present. Assessor in the control quality national scheme for the cystic fibrosis genetic test, coordinated by the Italian Institute of Health (ISS).
2017 – at present. National coordinator of the research commission of Italian Cystic Fibrosis Society (SIFC).

1999 - 2004. Researcher of Clinical Biochemistry and Clinical Molecular Biology at Dept. of Cellular Biotechnologies and Hematology of the Medical Faculty of the Sapienza University of Rome.
1999 – 2018 May 31st. BS Assistant of Dept. of Diagnostic Medicine at Policlinico Umberto I University Hospital, Rome.
2014 – 2016. National coordinator of the cystic fibrosis geneticist group of Italian Cystic Fibrosis Society (SIFC).
2016 – 2019. Coordinator of the working group for the revision of Consensus document on the Cystic Fibrosis genetic analysis.

Main activities and responsibilities: research, teaching and diagnostics.


RESEARCH

- regulation of DNA methylation and demethylation processes in eukaryotic cells;
- DNA methylation, modulation of gene expression and cell differentiation;
- molecular mechanisms of the gene therapy by small fragment homologous replacement (SFHR);
- molecular genetics of cystic fibrosis and of CFTR-related disorders and study of the genotype/phenotype relationship in this diseases;
- precision therapy and theratyping of cystic fibrosis;
- functional characterization of CFTR (cystic fibrosis transmembrane conductance regulator) and ENaC (epithelial sodium channel) genes in physiologic and pathologic conditions;
- molecular diagnostic methodologies and pathogenetic mechanisms underlying cystic fibrosis, CFTR-related disorders, atherosclerosis, alcohol addiction and neurological disorders;
- setup and automation of mutational search methodologies.

Patent holder of a method of mutational search in the CFTR gene.

Peer reviewer of 25 international journals. Associate Editor of: World Journal of Medical Genetics (since 2011); AIMS Medical Science (since 2016); BMC Medical Genomics (since 2019).


TEACHING

Teacher in 10 courses (one of Doctorate) of the Sapienza University of Rome.


DIAGNOSTICS

- Molecular diagnostics of cystic fibrosis, low HDL syndrome and alcohol addiction;
- Management of the Central Lab of the Policlinico Umberto I University Hospital.