Universitą degli studi di Pavia


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Personal data

First Name and Surname RaefaAbou Khouzam
Home Address Damascus Road-Aley-Lebanon
Telephone +39 3896682275
+961 3 086745
E-mail raefa.aboukhouzam01@ateneopv.it
Date and place of birth 13/05/1989, Aley-Lebanon
Nationality Lebanese

Education and qualifications

2013-2016: PhD in “Genetics, Molecular and Cellular Biology”, Department of Biology and Biotechnology,University of Pavia, Pavia-Italy.
Dissertation entitled: New molecular players in gastric carcinogenesis

2010-2012: Master Degree in “Cancer Biology”, Doctoral School of Science and Technology (EDST), Lebanese University, Hadath-Lebanon.
Thesis entitled: “Cap dependent translation control during colorectal carcinogenesis”

2007-2010: Bachelor Degree in “Biochemistry”, Faculty of Science, Lebanese University, Hadath-Lebanon.

Research and professional experience

November 2013-December 2016: PhD Fellow in the Laboratory of Human Genetics-Cancer Genetics at the Department of Biology and Biotechnology, University of Pavia, Italy.
Scientific supervisor: Prof. G. N. Ranzani.
Main research activity: investigation of new molecular players in gastrointestinal carcinogenesis.

October 2012-June 2013: Part time Research Assistant with the team of Molecular tumorigenesis and anti-cancer pharmacology (TM-PAC) at EDST, Lebanese University, Hadath-Lebanon.
Main activity: literature review, manuscripts’ preparation; as well as getting familiarized with cell culture, protein extraction/quantification and western blotting.

January-June 2012: Internships for the Experimental Master Degree thesis at Doctoral School of Science and Technology(EDST), Lebanese University, Hadath-Lebanon and at the Pathology Department, Specialized Medical Laboratories (SML), Mazraa-Lebanon.
Scientific Supervisor: Dr. R. Azar.
Main research activity: expression analysis of eukaryotic initiation factor 4E and 4E- binding-protein-1 in colorectal carcinogenesis by immunohistochemistry.

June-August 2011: Aid pharmacist at Nisrine’s Pharmacy, Aley-Lebanon.
Main activity: running inventories, organizing products and documenting sales.

August-September 2009: Internship at the Department of Pathology & Laboratory Medicine, Faculty of Medicine and Medical Center, American University of Beirut (AUB), Beirut-Lebanon;
Main activity: writing standard operating procedures (SOPs) and getting familiarized with gas chromatography, spectrophotometry and water bacteriology.


Arabic (Native); English (Advanced, regular use since childhood); Italian (Elementary, level A2).

Laboratory techniques

-DNA and RNA extraction from biological samples;
-Purification, quantification and quality assessment of nucleic acids;
-PCR and RFLP genotyping;
-DNA methylation analysis by bisulfite sequencing;
-Reverse-Transcription PCR (RT-PCR); quantitative RT-PCR; digital-PCR;
-SNuPE (Single-Nucleotide Primer Extension);
-DNA sequencing and sequence analysis;
-Basic experience in cell culture, protein extraction/quantification and western blotting.

Informatics and bioinformatics skills

-Microsoft Office: Word, Excel and Power Point;
-Bioinformatics programs and resources: NCBI (Entrez, Pubmed, OMIM, ClinVar, Nucleotide, dbSNP, Gene, Protein),Ensembl, BLAST, ClustalW2, ORF finder, Mutation Taster, Polyphen2, SIFT, PROVEAN, SNAP2;
-Basic knowledge of the statistical software “R”

Progetto di Ricerca  

Nuovi fattori genetici di predisposizione ai tumori del tratto gastroenterico
New players in genetic predisposition to gastrointestinal cancer
Functional loss of E-cadherin is a well-established molecular event that occurs during gastric cancer progression, leading to increased invasion of cancer cells to neighboring tissues and to metastasis. In fact, pathogenic germline mutations in CDH1, the gene encoding E-cadherin, explain 20-40% of hereditary diffuse gastric cancer (HDGC) cases. Nonetheless, a large fraction of HDGC remains genetically unexplained. Moreover aberrant E-cadherin protein expression has been detected, without an obvious genetic determinant, in a subset of HDGC and sporadic GC cases, suggesting the existence of alternative mechanisms for E-cadherin downregulation. Indeed CDH1 intron 2 is a proven cis-modulator of E-cadherin expression that has recently been shown to give rise to non-canonical transcripts. One in particular was found to promote cell invasion and angiogenesis in an E-cadherin dependent context. Therefore in this study we focused on evaluating, for the first time, the differential expression of canonical and non-canonical transcripts of CDH1 in both hereditary and sporadic gastric cancer patients by RT-qPCR, and to uncover novel HDGC predisposition genes by exome sequencing.
In addition to that work on gastric cancer, we are interested in investigating the associations between allelic variants/haplotypes in certain members of the bitter taste receptor genes (TAS2Rs) (found to be expressed in extraoral organs, including the gastrointestinal tract) with bitter sensitivity, food preferences, lifestyle and diseases, focusing on colorectal cancer (CRC) and advanced adenoma (AA) within an organized screening program.


Marabelli M*, Gismondi V*, Ricci MT, Vetro A, Abou Khouzam R, Rea V, Zuffardi O, Varesco L, Ranzani GN. A novel APC promoter-1B deletion shows a founder effect in Italian patients with familial adenomatous polyposis. In preparation. (*Equal contributors)

Abou Khouzam R, Molinari C, Salvi S, Marabelli M, Molinaro V, Orioli D, Saragoni L, Morgagni P, Calistri D, Ranzani GN. Digital PCR identifies changes in CDH1 (E-cadherin) transcription pattern in intestinal-type gastric cancer. Oncotarget. 2016 [Epub ahead of print]. DOI: 10.18632/oncotarget.13401.

Marabelli M, Molinaro V, Khouzam RA, Berrino E, Panero M, Balsamo A, Venesio T, Ranzani GN. Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients. Genet. Test Mol Biomarkers. 2016; 20:777-785

Diab-Assaf M*, Abou-Khouzam R*, Saadallah-Zeidan N, Habib K, Bitar N, Karam W, Liagre B, Harakeh S, Azar R. Expression of eukaryotic initiation factor 4E and 4E binding protein 1 in colorectal carcinogenesis. Int J ClinExpPathol. 2015; 8:404-13.(*Equal contributors)

Harakeh S, Abou-Khouzam R, Damanhouri GA, Al-Hejin A, Kumosani T, Niedzwiecki A, Rath M, Barbour E, Diab-Assaf M, Azar R. Effects of nutrients on matrix metalloproteinases in human T-lymphotropic virus type 1 positive and negative malignant T-lymphocytes. Int J Oncol.2014; 45:2159-66.

Conference abstracts and oral communications

AbouKhouzam R, Molinaro V, Marabelli M, Bonanni B, Calistri D, Ranzani GN. CDH1 transcripts’ analysis in gastric cancer. AIFEG-Congress on Hereditary Gastrointestinal Tumors. Napoli-Italy, 12-13 October 2015.

Marabelli M, Molinaro V, AbouKhouzam R, Balsamo A, Venesio T, Ranzani GN. Germline defects predisposing to colorectal adenomas and carcinomas. AGI/SIMA-Congress on Genetics and Mutagenesis. Cortona, Arezzo-Italy, 28-30 September 2015.

AbouKhouzam R, Grugni V, Raveane A, Marabelli M, Molinaro M, Polizzi S, Morini G, Semino O, Ranzani GN. Bitter taste receptor polymorphisms and colorectal cancer risk. AIFEG-Congress on Hereditary Gastrointestinal Tumors. GazzadaSchianno, Varese-Italy, 16-17 October 2014.

AbouKhouzam R, Diab-Assaf M, Saadallah-Zeidan N, Habib K, Bitar N, Karam W,Liagre B, Harakeh S, Azar R. eIF4E/4EBP1 ratio during colorectal carcinogenesis.19th LAAS International Science Conference New Frontiers in Sciences. Lebanese American University, Beirut-Lebanon, 5–6 April 2013.

AbouKhouzam R, Diab-Assaf M, Saadallah-Zeidan N, Habib K, Bitar N, Karam W, Liagre B, Harakeh S, Azar R.Cap dependent translation control during colorectal carcinogenesis.2nd International Meeting in Cellular and Molecular Biology.Doctoral School of Sciences and Technology (EDST).Lebanese University, Hadath-Lebanon, 16–17November 2012.

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