World Journal of Case Reports

Editor Name: Marilena Melas

Designation: Genetics and Genomics fellow

Country: Ohio, United States

University: University of Southern California

Email: marilena.melas@nationwidechildrens.org

BIOGRAPHY

EDUCATION

POST GRADUATE EDUCATION

August 2019-July 2021: ABMGG Clinical Laboratory Genetics and Genomics fellow, The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children’s Hospital, Columbus, Ohio.

GRADUATE EDUCATION

August 2015-August 2019: PhD Candidate in Cancer Biology and Genomics, Program in Biomedical and Biological Sciences (PIBBS), USC Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

PhD dissertation: Genomic, Transcriptomic and Immunologic landscapes of Human Cancers.

Supervisor:Pr. Stephen Gruber (MD, PhD). USC/Norris Comprehensive Cancer Center, Los Angeles, CA, USA.

September 2010-September 2011: MSc Program (Honors): Genetics of Human Diseases, Department of Biosciences, University College London (UCL), London, UK.

MSc project: Mutational analysis of the FBXW7 gene in Wilms’ Tumor patients.

Supervisor: Pr. Kathy Pritchard Jones (MD, PhD), Institute of Child Health, UCL, London, UK

September 2008-July 2010: Inderdisciplinary MSc Program (Honors): “Cellular and Genetic Etiology, Diagnosis and Treatment of Human Disease”, School of Medicine/Institute of Molecular Biology and Biotechnology (IMBB-FORTH) University of Crete, Heraklion, Greece.

MSc project: Assessment of the immune response to a therapeutic cancer vaccine, Vx-001, in HLA-A* 0201 lung cancer patients.

Supervisor: Pr. DimitriosMavrudis (MD, PhD), Department of Medicine, University of Crete, Greece

UNDERGRADUATE EDUCATION

September 2002-April 2008:

BSc program (Distinction, Ranked 1st): Applied Biology (5-year degree).University of Ioannina, Greece.

Undergraduate thesis (February 2007-August 2007): The impact of the monoclonal antibody called AVE-1642, on the receptor of the insulin-like growth factor IGF-I, (IGF-IR) in human lung cancer.

Supervisor: Pr. VassilisGeorgoulias (MD, PhD), Department of Medicine, University of Crete, Heraklion,Greece

RESEARCH ACTIVITIES/WORK EXPERIENCE

March 2013-August 2015:

Research Lab Specialist under the supervision of Pr. Stephen Gruber, Director of USC/Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, California.

Responsibilities: Cancer Genetics Registry patient accrual, participation in research projects such as Colorectal (CORECT) Transdisciplinary GWAS Study, identification and characterization of a novel tumor mutation in BAP1 gene which led to an increased understanding of the BAP1-associated tumor predisposition syndrome, Hypermethylation of MLH1 gene, Assessment of Microsatellite instability in African-Americans and Nigerian patients with colon cancer, Identification and Genetic Anthropology of a novel mutS homolog 2 (MSH2) mutation in a Druze population.

September 2012-November 2012:

Research Assistant under the supervision of Pr. Alexander Stratigos (MD, PhD) at the Hospital of Dermatology and Venearology ‘’Andreas Syggros’’, Athens, Greece

Responsibilities: ‘MelGene’ Database project coordinator (a database for genetic associated studies in melanoma)

December 2011-September 2012:

Research assistant under the supervision of Pr.VoulaVelissariou (PhD) at the department of Genetics and Molecular Biology, Cytogenetics diagnostic lab at ‘Mitera’ General, Maternity/Gynecology and Children’s Hospital, Athens, Greece.

Responsibilities: Karyotying, chromosomal analysis and cell cultures from amniotic fluid samples, Chorionic villi samples (CVS) and embryonic tissues from products of conception (POC).

May 2008-August 2008: Practical training (Regulation of Gene Expression in the Immune System). Institute of Molecular Biology and Biotechnology (IMBB) /FORTH, University of Crete, Greece.

Responsibilities: I conducted DNA-FISH experiments and studied the gene expression pattern of TNFα in murine RAW264.7 macrophages cells upon induction with lps, in a time-dependent manner.

June 2006-August 2006: Practical training (Regulation of Gene expression in mammals). IMBB/FORTH, University of Crete, Greece. Supervisor: Dr. IosifPapamethakis.

AWARDS-SCHOLARSHIPS

-Selected as a TEDx ColumbusWomen speaker for the event “Bold and Brilliant” in December 8^th2020, in Columbus, Ohio

Talk title: Personalized Medicine: How your genome can improve your healthcare.

https://www.youtube.com/watch?v=fOKO_537YAU&t=682s

-Selected to participate in the 9th Summer School of the World Hellenic Biomedical Association (WHBA) in Medical & Biosciences Research & Management, in May 15 - 22, 2020 (postponed for May 2021) in Neo Itilo of Mani Lakonias, Greece (my application was ranked in the top-20 applicants who will be granted with a full scholarship covering all fees and travel expenses)http://www.whba1990.org/summerschool2020.html

-USC Student Recognition: Order of Arete Award; the highest honor accorded graduate students, May 2019.http://studentrecognition.usc.edu/awards/

-Member of the Honor Society Phi Kappa Phi since April 2019. https://link.phikappaphi.org/members/profile?UserKey=656d528a-b026-49f8-b5a7-197b803cf32e

-Kure It Cancer Research award for the PhD project: “Elucidation the Embryologic Origin and Pathobiology of a de novo PATRR-mediated t(3:8) Balanced Translocations Associated with Clear Cell Renal Carcinoma”. -Second place award at the 3^rd Sci-5 Competition organized by USC PIBBS graduate program, October 23^rd, 2018

-Award for best oral presentation “Elucidating a de novo PATRR mediated balanced translocation t(3;8) associated with clear cell renal cell carcinoma”, 2017 University of Southern California Graduate Students symposium, October 20^th 2017, Cedars Sinai Medical Center, Los Angeles.

-Scholarship for participation in the Summer School for Computational Genomics (CREEDS) at Icahn School of Medicine at Mount Sinai, June 12^th-June 23^rd 2017, NYC. Course Sponsor: NIH Big Data to Knowledge (BD2K) 1R25EB020393 (fully covered fees and travel expenses)https://icahn.mssm.edu/education/non-degree/creeds

-Travel Award $1,000 for the academic year 2016-2017 offered by USC Graduate School

-Selected to participate in the ‘Bootcamp for external fellowships’ organized my USC Graduate School and offered a $1,000 award for the beginning of my PhD studies. August 2015, Los Angeles.

-Scholarships of excellent achievement from the Hellenic Scholarship Foundation (www.iky.gr) for all the academic years of my undergraduate studies (ranked 1^st). University of Ioannina-Dept. of Biological Applications and Technologies, Greece.

-Graduation with Honors (Ranked 1^st among 100 students-Valedictorian at the Graduation Ceremony) from the University of Ioannina- Dept. of Biological Applications and Technologies, Greece, April 2008. (GPA: 3.8)

-Scholarship from the Propondis Foundation (www.propondis.gr) for the academic years 2008-2010 in recognition of academic achievement and excellent performance during my MSc studies (Molecular Basis of Human Diseases) at the Dept. of Medicine, University of Crete, Greece. (GPA: 3.98)

PUBLICATIONS

M. Melas, K. J. McDonnell, P.S. Boonstra, L. Raskin, C.C. Studenmund, M. Zawistowski, B.Mukherjee, F. Lejbkowicz, H.S. RennertG. Rennert, S.B. Gruber. Identification and characterization of a novel MSH2*c.705delA pathogenic variant causing colon cancer in a Druze population. Cancer Genetics (Manuscript in submitting stage).

Marilena Melas, Kevin J. McDonnell, Chris K. Edlund, Sarah J.Tash, Duveen Y. Sturgeon, Chenxu Qu, Charalampos Lazaris, Peter J.Gruber, Thomas W.Glover, Beverly S.Emanuel, Stephen B.Gruber. De novo Palindromic Adenine Thymidine Rich Repeat (PATRR)-mediated constitutional balanced t(3;8) translocation associated with clear cell renal cell carcinoma. (Manuscript in drafting stage).

Marcia A. Ciccone, Crystal L. Adams, Charles Bowen, Teena Thakur, Charité Ricker, Julie O. Culver, Asaf Maoz, Marilena Melas, Gregory E. Idos, Anand D. Jeyasekharan, Koji Matsuo, Lynda D. Roman, Stephen B. Gruber, Kevin J. McDonnell.Inhibition of poly(ADP-ribose) polymerase induces synthetic lethality in BRIP1 deficient ovarian epithelial cells, May 2020 (Manuscript submitted to Gynecologic Oncology).

Bien A. Stephanie, Su Yu-Ru….Melas Marilena….Peters U. Genetic variant predictors of gene expression provide new insight into risk of Colorectal Cancer. Hum Genet. 2019 Jul;138(7):789-791. doi: 10.1007/s00439-019-02030-8)

Schmit SL, Edlund CK, Schumacher FR, Gong J, Harrison TA, Huyghe JR, Qu C, Melas M,…et al…Gruber SB. Novel Common Genetic Susceptibility Loci for Colorectal Cancer. J Natl Cancer Inst. 2018 Jun 16. doi: 10.1093/jnci/djy099.

Jeroen R Huyghe, Stephanie A Bien…Marilena Melas… Ulrike Peters. Discovery of common and rare genetic risk variants for colorectal cancer. Nature Genetics 2018 doi: 10.1038/s41588-018-0286-6.

Katrina Lowstuter, Carin R. Espenschied, Duveen Sturgeon, Charité Ricker, RachidKaram, Holly LaDuca, Julie O. Culver, Jill S. Dolinsky,Elizabeth Chao, Julia Sturgeon, Virginia Speare, Yanling Ma, Kerry Kingham, MarilenaMelas, Gregory E. Idos, Kevin J. McDonnell, James M. Ford, Stephen B. Gruber. Unexpected CDH1 Mutations Identified on Multi-Gene Panels Pose Clinical Management Challenges. JCO Precision Oncology (2017)DO1: 10.1200/PO.17.00006.

Irabor DO, Oluwasola OA, Ogunbiyi OJ, Ogun OG, Okolo CA, Melas M, Gruber SB, Shi C, Raskin L. Microsatellite Instability is Common in Colorectal Cancer in Native Nigerians. Anticancer Res. 2017 May; 37(5); 1649-1654.

Annette Y. Sungaand Charité Ricker, Carin R. Espenschied, Danielle Castillo, MarilenaMelas, Josef Herzog, Sarah Bannon, Marcia Cruz-Correa, Patrick Lynch, Ilana Solomon, Stephen B. Gruber, Jeffrey N. Weitzel. Spectrum of Mismatch Repair Gene Mutations and Clinical Presentation of Hispanic Individuals with Lynch syndrome. Cancer Genetics (2017)doi:10.1016/j.cancergen.2017.01.003.

McDonnell, Kevin J, Gregory T Gallanis, Kathleen A Heller, MarilenaMelas, Gregory E Idos, Julie O Culver, Sue-Ellen Martin, David H Peng, and Stephen B Gruber. A Novel BAP1 Mutation Is Associated with Melanocytic Neoplasms and Thyroid Cancer.Cancer Genetics 209, no. 3 (March 2016): 75–81. doi:10.1016/j.cancergen.2015.12.007.

Schumacher, Schmit SL, Jiao S, Edlund CK, Wang H, Zhang B, Hsu L, Huang SC, Fischer CP, Harju JF, Idos GE, Lejbkowicz F, Manion FJ, McDonnell K, McNeil CE, Melas M,… et al…Stephen B Gruber, Urike Peters. “Genome-Wide Association Study of Colorectal Cancer Identifies Six New Susceptibility Loci..” Nature Communications 6 (July 7, 2015): 7138. doi:10.1038/ncomms8138

Grivas, Petros D, MarilenaMelas, and Athanasios G Papavassiliou. The Biological Complexity of Urothelial Carcinoma: Insights into Carcinogenesis, Targets and Biomarkers of Response to Therapeutic Approaches. Seminars in Cancer Biology 35 (December 2015): 125–32. doi:10.1016/j.semcancer.2015.08.006.

Vetsika, Eleni-Kyriaki, ElisavetPapadimitraki, DespoinaAggouraki, Georgios Konsolakis, Marina-Eleni Mela, Athanasios Kotsakis, Soultana Christou, et al. Sequential Administration of the Native TERT572 Cryptic Peptide Enhances the Immune Response Initiated by Its Optimized Variant TERT572Y in Cancer Patients.Journal of Immunotherapy 34, no. 9 (2011): 641–50. doi:10.1097/CJI.0b013e31823284a6.

Spiliotaki, Maria, HarisMarkomanolaki, MarilenaMelas, Dimitris Mavroudis, VassilisGeorgoulias, and Sofia Agelaki. Targeting the Insulin-Like Growth Factor I Receptor Inhibits Proliferation and VEGF Production of Non-Small Cell Lung Cancer Cells and Enhances Paclitaxel-Mediated Anti-Tumor Effect.Lung Cancer 73, no. 2 (August 2011): 158–65. doi:10.1016/j.lungcan.2010.11.010.