Faculty & Staff

Barbara Fortini, PhD

Barbara Fortini joined KGI in July 2017 to lead the Master of Science in Human Genetics and Genomic Data Analytics (MSGDA) program. Within the KGI curriculum, Fortini teaches four courses: Human Molecular Genetics, Human Genomics, Human Genomics NGS Lab, and Functional Genomics. Fortini’s research is focused on how non-coding genomic variation affects colorectal cancer risk.

Prior to joining KGI, Fortini served as a visiting assistant professor of biology at the W.M. Keck Science Department of the Claremont McKenna, Pitzer, and Scripps Colleges. Fortini completed her postdoctoral training at the Keck School of Medicine of USC in the Department of Preventive Medicine at the USC Norris Comprehensive Cancer Center. She received her BS in 2002 and her PhD in 2011 at the California Institute of Technology.

  1. Fei F, Caporale C, Chang L, Fortini BK, Ali H, Bell D, Stein A, Marcucci G, Telatar M, Afkhami M. “BRAF Mutations in Patients with Myeloid Neoplasms: A Cancer Center Multigene Next-Generation Sequencing Analysis Experience” Int J Molecular Sciences (2024) May 9;25(10):5183. PMID: 38791222
  2. Fortini BK, Tring S, Devall MA, Ali MW, Plummer SJ, Casey G. “SNPs Associated with Colorectal Cancer at 15q13.3 Affect Risk Enhancers that Modulate GREM1 Gene Expression” Human Mutation (2021) Mar;42(3):237-245. PMID: 33476087
  3. Barbara Fortini & Mark Kiel. “How Education is Catching Up with Genomics” J of Precision Med (2019) Aug;5(3) (non-refereed commentary)
  4. S Schmit, CK Edlund, F Schumacher, J Gong, T Harrison, J Huyghe, D Van Den Berg, H Wang, S Tring, S Plummer, D Albanes, H Alonso, C Amos, K Anton, A Aragaki, V Arndt, E Barry, S Berndt, S Bézieau, S Bien, A Bloomer, J Boehm, H Brenner, D Buchanan, K Butterbach, B Caan, P Campbell, C Carlson, J Castelao, A Chan, J Chang-Claude, S Chanock, I Cheng, YW Cheng, J Church, T Church, G Coetzee, M Cotterchio, MC Correa, K Curtis, D Duggan, D Easton, D English, R Fischer, L FitzGerald, BK Fortini, C Fuchs, M Gago-Dominguez, M Gala, S Gallinger, WJ Gauderman, G Giles, E Giovannucci, S Gogarten, C González-Villalpando, ME González-Villalpando, W Grady, J Greenson, C Haiman, J Hampe, J Harju, R Hayes, M Hoffmeister, J Hopper, SC Huang, T Hudson, D Hunter, G Idos, M Iwasaki, R Jackson, E Jacobs, SH Jee, M Jenkins, WH Jia, S Jiao, A Joshi, L Kolonel, S Kono, C Kooperberg, S Kury, A LaCroix, C Laurie, F Lejbkowicz, M Lemire, HJ Lenz, D Levine, C Li, L Li, W Lieb, Y Lin, N Lindor, YR Liu, F Loupakis, Y Lu, F Luh, J Ma, C Mancao, F Manion, S Markowitz, V Martin, K Matsuda, K Matsuo, K McDonnell, C McNeil, M Melas, R Milne, A Molina, B Mukherjee, P Newcomb, K Offit, J Paredes Cotore, J Pérez-Mayoral, P Pharoah, J Potter, C Qu, L Raskin, G Rennert, H Rennert, B Riggs, C Schafmayer, R Schoen, T Sellers, D Seminara, G Severi, W Shi, D Shibata, XO Shu, E Siegel, M Slattery, M Southey, Z Stadler, M Stern, S Stintzing, D Taverna, S Thibodeau, D Thomas, S Tsugane, C Ulrich, V Joseph, J Virtamo, S Weinstein, E White, AK Win, A Wolk, M Woods, A Wu, K Wu, YB Xiang, Y Yen, B Zanke, YX Zeng, B Zhang, N Zubair, SS Kweon, J Figueiredo, W Zheng, L Le Marchand, A Lindblom, V Moreno, U Peters, G Casey, L Hsu, D Conti, S Gruber. “Novel Common Genetic Susceptibility Loci for Colorectal Cancer” J Natl Cancer Inst (2019) Feb 1;111(2):146-157. PMID: 29917119. Corrigendum PMID: 26498495
  5. AL Maheras, B Dix, OMS Carmo, AE Young, VN Gill, JL Sun, AR Booker, HA Thomason, AE Ibrahim, L Stanislaw, JC Dallego, CN Ngo, A Chen, BK Fortini and RD Spence. “Genetic Pathways of Neuroregeneration in a Novel Mild Traumatic Brain Injury Model in Adult Zebrafish” eNeuro (2018) Jan 2:5(1). PMID: 29302617
  6. SL Schmit, FR Schumacher, CK Edlund, DV Conti, U Ihenacho, P Wan, D Van Den Berg, G Casey, BK Fortini, HJ Lenz, T Tusié-Luna, CA Aguilar-Salinas, H Moreno Macías, A Huerta-Chagoya, ML Ordóñez-Sánchez, R Rodríguez-Guillén, I Cruz-Bautista, M Rodríguez-Torres, LL Muñóz-Hernández, O Arellano-Campos, D Gómez, U Alvirde, C González-Villalpando, ME González-Villalpando, L Le Marchand, CA Haiman, JC Figueiredo. “Genome-wide Association Study of Colorectal Cancer in Hispanics” Carcinogenesis (2016) Jun;37(6):547-556. PMID: 27207650
  7. MP Salomon, WL Li, CK Edlund, J Morrison, BK Fortini, AK Win, DV Conti, DC Thomas, D Duggan, DD Buchanan, MA Jenkins, JL Hopper, S Gallinger, L Le Marchand, PA Newcomb, G Casey, P Marjoram. “GWASeq: Targeted Re-sequencing Follow Up to GWAS” BMC Genomics (2016) Mar 3;17(1):176. PMID: 26940994
  8. FR Schumacher*, SL Schmit*, Shuo Jiao*, C K Edlund, H Wang, B Zhang, L Hsu, SC Huang, CP Fischer, JF Harju, GE Idos, F Lejbkowicz, FJ Manion, K McDonnell, CE McNeil, M Melas, HS Rennert, W Shi, DC Thomas, DJ Van Den Berg, CM Hutter, AK Aragaki, K Butterbach, BJ Caan, CS Carlson, SJ Chanock, KR Curtis, CS Fuchs, M Gala, Edward L. Giocannucci, SM Gogarten, RB Hayes, B Henderson, DJ Hunter, RD Jackson, LN Kolonel, C Kooperberg, S Kury, A LaCroix, CC Laurie, CA Laurie, M Lemire, D Levine, J Ma, KW Makar, C Qu, D Taverna, CM Ulrich, K Wu, S Kono, DW West, SI Berndt, S Bezieau, H Brenner, PT Campbell, AT Chan, J Chang-Claude, GA Coetzee, DV Conti, D Duggan, JC Figueiredo, BK Fortini, SJ Gallinger, WJ Gauderman, G Giles, R Green, R Haile, TA Harrison, M Hoffmeister, JL Hopper, TJ Hudson, E Jacobs, M Iwasaki, SH Jee, M Jenkins, WH Jia, A Joshi, L Li, NM Lindor, K Matsuo, V Moreno, B Mukherjee, PA Newcomb, JD Potter, L Raskin, G Rennert, S Rosse, G Severi, RE Schoen, D Seminara, XO Shu, ML Slattery, S Tsugane, E White, YB Xiang, BW Zanke, W Zheng, L Le Marchand, G Casey, SB Gruber, U Peters. "Genome-wide Association Study of Colorectal Cancer Identifies Six New Susceptibility Loci" Nature Commun (2015) Jul 7;6:7138. PMID: 26151821
  9. BK Fortini, S Tring, SJ Plummer, CK Edlund, V Moreno, RS Bresalier, EL Barry, TR Church, JC Figueiredo, G Casey. “Multiple Functional Risk Variants in a SMAD7 Enhancer Implicate a Colorectal Cancer Risk Haplotype” PLoS One (2014) Nov 6:9(11):e111914. PMID: 25375357
  10. M Biancolella*, BK Fortini*, S Tring, SJ Plummer, G Mendoza-Fandino, J Hartiala, MJ Hitchler, C Yan, FR Schumacher, DV Conti, CK Edlund, H Noushmehr, SG Coetzee, RS Bresalier, DJ Ahnen, EL Barry, BP Burman, JC Rice, G Coetzee, G Casey. “Identification and Characterization of Functional Risk Variants for Colorectal Cancer Mapping to Chromosome 11q23.1” Hum Mol Genet (2014) Apr 15;23(8):2198-209. PMID: 24256810

Complete list of published work in MyBibliography: https://www.ncbi.nlm.nih.gov/myncbi/barbara.fortini.2/bibliography/public/

Dr. Barbara Fortini’s research expertise lies in the fields of genetics and genomic data analytics of cancer risk.  Her thesis studies explored DNA stability and DNA repair, while her postdoctoral research transitioned to focus on human colon cancer genomics, using both bioinformatics and cell-based assays to understand the consequences of variants associated with colon cancer risk on gene expression.  These studies used genome-wide data sets of chromatin modifications to characterize enhancer and promoter regions involved in cancer risk that eventually led to the identification of novel genes associated with cancer etiology and an understanding of the impact of single nucleotide variants on gene enhancers.  Fortini’s recent interests relate to the role of chromatin conformation on gene expression regulation, and the impact of genetic variation on chromatin loops, and how sequence variation relates to transcription factor binding preferences.   In addition to studies of genome stability and cancer biology, she is also interested in scholarship related to genomics education and variant science training programs.