• Prof. Giuseppe Matullo, PI
• Dr.ssa Alessia Russo,  Research Technician
• Dr.ssa Cornelia Di Gaetano,  Research Technician
• Dr.ssa Alessandra Allione, Research Technician
• Dr.ssaElisabetta Casalone, Post-doc Research Fellow
• Dr.ssa Clara Viberti, Research Fellow
• Dr. Elton Jalis Herman, Research Fellow
• Dr.ssa Miriam Rosselli, Research Fellow
• Dr. Angelo Savoca, Research Fellow
• Cecilia Di Primio, Research Fellow
• Dr. Giovanni Cugliari,PhD student
• Dr.ssa Chiara Catalano, PhD student
• Dr.ssa Carla Debernardi, PhD student
• Dr.ssa Khadija Sana Hafeez, PhD student
• Dr. Tze Yin Lim, PhD student
• Dr.ssa Ilaria Cotellessa, Master student
• Dr.ssa Serena Aneli, Specialization student
• Dr.ssa Barbara Pardini, Afferent

• Palazzina Ceppellini, second floor, via Santena 19, 10126 Torino
• phone: +39 011 670 5601 
• e-mail: giuseppe.matullo@unito.it

• Prof. Giuseppe Matullo
• Dr.ssa Alessia Russo

The research Unit focuses its study on inter-individual genomic and epigenomic variability and its relevance in the development of complex diseases (cardiovascular and cancer), in the pharmacogenetics/pharmacogenomics and for population medicine applications.

The Unit is characterized by a multidisciplinary approach given by the union of the skills of geneticists, molecular biologists, biotechnologists, mathematicians, bioinformaticians, biostatisticians, and collaborates closely with clinical research groups. The use of high-throughput molecular analysis by technological platforms such as massive parallel sequencing, allows to better characterize inter-individual differences in large cohorts, identifying groups of highly informative genetic and epigenetic markers, with potential implications in the field of personalized medicine.

In particular, the Unit has considerable experience in the study of genomic variability through next generation sequencing (NGS) with development and analysis of gene panels, sequencing of exomes and whole genomes, relying on a reference database of the Italian population. A deeper knowledge of the distribution of common and rare gene variants, together with the ability to interpret the pathogenicity of variants of unknown significance, will allow to build polygenic risk / prognosis models and perform more accurate interaction analyses with traditional parameters and other related biomarkers (methylation of DNA, microRNA, etc.).

The activities of the Unit range in a wide variety of applications using the most recent "omics" techniques, meaning by this term the different forms of genomic and epigenomic variability, variations in the number of DNA copies, differences in the transcriptome and microRNA, up to integration with proteomics data. The integration of the results deriving from the study of different types of biofluids and omics data from different platforms relating to subjects well characterized phenotypically and clinically, offer new opportunities for pathways and biomarkers identification, significant for early diagnosis and prognosis, allowing to stratify at risk subjects and to plan targeted prevention and therapeutic interventions.

• List of Publications of the last 3 year 

1. Casalone E, Birolo G, Pardini B, Allione A, Russo A, Catalano C, Mencoboni M, Ferrante D, Magnani C, Sculco M, Dianzani I, Grosso F, Mirabelli D, Filiberti RA, Rena O, Sacerdote C, Rodriguez-Barranco M, Smith-Byrne K, Panico S, Agnoli C, Johnson T, Kaaks R, Tumino R, Huerta JM, Riboli E, Heath AK, Trobajo- Sanmartín C, Schulze MB, Saieva C, Amiano P, Agudo A, Weiderpass E, Vineis P,  Matullo G. Serum Extracellular Vesicle-Derived microRNAs as Potential Biomarkers for Pleural Mesothelioma in a European Prospective Study. Cancers (Basel). 2022 Dec 25;15(1):125. doi: 10.3390/cancers15010125. PMID: 36612122; PMCID: PMC9817828.  
2. Birolo G, Aneli S, Di Gaetano C, Cugliari G, Russo A, Allione A, Casalone E, Giorgio E, Paraboschi EM, Ardissino D, Duga S, Asselta R, Matullo G. Functional and clinical implications of genetic structure in 1686 Italian exomes. Hum Mutat. 2021 Mar;42(3):272-289. doi: 10.1002/humu.24156. Epub 2021 Feb 2. PMID: 33326653.
3. Raveane A, Aneli S, Montinaro F, Athanasiadis G, Barlera S, Birolo G, Boncoraglio G, Di Blasio AM, Di Gaetano C, Pagani L, Parolo S, Paschou P, Piazza A, Stamatoyannopoulos G, Angius A, Brucato N, Cucca F, Hellenthal G, Mulas A, Peyret-Guzzon M, Zoledziewska M, Baali A, Bycroft C, Cherkaoui M, Chiaroni J, Di Cristofaro J, Dina C, Dugoujon JM, Galan P, Giemza J, Kivisild T, Mazieres S, Melhaoui M, Metspalu M, Myers S, Pereira L, Ricaut FX, Brisighelli F, Cardinali I, Grugni V, Lancioni H, Pascali VL, Torroni A, Semino O, Matullo G*, Achilli A*, Olivieri A*, Capelli C*. Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe. Sci Adv. 2019 Sep 4;5(9):eaaw3492. doi: 10.1126/sciadv.aaw3492. eCollection 2019 Sep. PubMed PMID: 31517044; PubMed Central PMCID: PMC6726452.
4. Guarrera S, Viberti C, Cugliari G, Allione A, Casalone E, Betti M, Ferrante D, Aspesi A, Casadio C, Grosso F, Libener R, Piccolini E, Mirabelli D, Dianzani I, Magnani C, Matullo G. Peripheral Blood DNA Methylation as Potential Biomarker of Malignant Pleural Mesothelioma in Asbestos-Exposed Subjects. J Thorac Oncol. 2019 Mar;14(3):527-539. doi: 10.1016/j.jtho.2018.10.163. Epub 2018 Nov 5. PubMed PMID: 30408567.
5. Wahl S, Drong A, Lehne B, Loh M, Scott WR, Kunze S, Tsai PC, Ried JS, Zhang W, Yang Y, Tan S, Fiorito G, Franke L, Guarrera S, Kasela S, Kriebel J, Richmond RC, Adamo M, Afzal U, Ala-Korpela M, Albetti B, Ammerpohl O, Apperley JF, Beekman M, Bertazzi PA, Black SL, Blancher C, Bonder MJ, Brosch M, Carstensen-Kirberg M, de Craen AJ, de Lusignan S, Dehghan A, Elkalaawy M, Fischer K, Franco OH, Gaunt TR, Hampe J, Hashemi M, Isaacs A, Jenkinson A, Jha S, Kato N, Krogh V, Laffan M, Meisinger C, Meitinger T, Mok ZY, Motta V, Ng HK, Nikolakopoulou Z, Nteliopoulos G, Panico S, Pervjakova N, Prokisch H, Rathmann W, Roden M, Rota F, Rozario MA, Sandling JK, Schafmayer C, Schramm K, Siebert R, Slagboom PE, Soininen P, Stolk L, Strauch K, Tai ES, Tarantini L, Thorand B, Tigchelaar EF, Tumino R, Uitterlinden AG, van Duijn C, van Meurs JB, Vineis P, Wickremasinghe AR, Wijmenga C, Yang TP, Yuan W, Zhernakova A, Batterham RL, Smith GD, Deloukas P, Heijmans BT, Herder C, Hofman A, Lindgren CM, Milani L, van der Harst P, Peters A, Illig T, Relton CL, Waldenberger M, Järvelin MR, Bollati V, Soong R, Spector TD, Scott J, McCarthy MI, Elliott P, Bell JT*, Matullo G*, Gieger C*, Kooner JS*, Grallert H*, Chambers JC*. Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity. Nature. 2017 Jan 5;541(7635):81-86. doi: 10.1038/nature20784. Epub 2016 Dec 21. PubMed PMID: 28002404; PubMed Central PMCID: PMC5570525.   

2022-2025 Piano Operativo Salute (FSC 2014-2020) - “Genoma mEdiciNa pERsonalizzatA” (GENERA), Role UniTO/Matullo: partner. Tot Funding UniTO: 400.000 Euros

• 2019-2023 - AIRC IG21390 “Non-invasive predictive and prognostic biomarkers in Malignant Pleural Mesothelioma: from preclinical to clinical models”, Role G. Matullo: Principal Investigator. Tot Funding: 796.000 Euros
• 2019-2024 Grant IMI2‐2017‐13‐01: “CARdiomyopathy in type 2 DIAbetes mellitus” (CARDIATEAM), Role UniTO/Matullo: WP5 leader. Tot Funding UniTO: 675.116 Euros.

o https://cardiateam.eu/

o https://www.imi.europa.eu/projects-results/project-factsheets/cardiateam

• 2021-2025 Grant H2020-SC1-FA-DTS-2018-2020: “International consortium for integrative genomics prediction” (INTERVENE), Role UniTO/Matullo: partner. Tot Funding UniTO: 294.534 Euros

o https://cordis.europa.eu/project/id/101016775/it

o https://www.interveneproject.eu/

• 2018-2022 Grant MIUR "Dipartimenti di Eccellenza 2018 – 2022”: “Traguardi di Eccellenza nelle Scienze mediche Esplorando le Omiche” (TESEO), Role G. Matullo: Genomic Unit Coordinator. Tot Funding Dip. Scienze Mediche UniTO: 7.866.000 Euros.

On 30/11/2017, Italian patent application No. 102017000138247 entitled " UromiRNA per la diagnosi in vitro di tumore alla vescica" was filed and on 29/11/2018 it was extended as European patent application No. EP18209223.9 entitled "UromiRNA for the in vitro diagnosis of bladder cancer" of which UNITO has full ownership. This patent was granted in exclusive license to Genechron s.r.l. from 26/06/2020. The proposed test is based on the measurement of a series of microRNAs in the urine that distinguish not only the presence of bladder cancer, but also the different subgroups of tumor (low-grade invasive non-muscle, high-grade invasive, invasive muscle).

• PCTO - Pathways for Transversal Skills and Orientation. 
• o Activity: "The secrets of nucleic acids" (27/6/2022 - 1/7/2022). A. Russo, A. Allione, G. Matullo.
• Activity: “The secrets of nucleic acids” (16/6/2021-25/6/2021). A. Russo, C. Di Gaetano, G. Matullo
• “Researcher Night”
• Mostra fotografica C. Catalano, E. Casalone, A. Allione
• TESEO project presentation (27/9/2019). A. Russo, E. Casalone, G. Caviglia.
• Public Engagement training initiatives. 
• Scientific Communication Course "Bench to public: from zero to hero". (June 2022). A. Allione
• Activities of involvement and interaction with the school world
• Meeting with boys and girls from different primary schools (2018-2022). A. Russo, A. Allione
• Project laboratories Tuit4STEM: meetings with different classes of high schools in Turin (2020). A. Allione, E. Casalone
• AIRC project presentation to High School students (4 Novembre 2021). G. Matullo
• “Epigenetics and environment: The impact of pollution on DNA”(24 /09/2022) Istituto Sobrero Casale Monferrato. E. Casalone