Revised 9/12/2019 CURRICULUM VITAE Ece D. (Gamsiz) Uzun, PhD Business or Mailing Address: Department of Pathology Rhode Island Hospital 593 Eddy Street Providence, RI 02903 Business Telephone Number: 401-793-8190 Business Fax Number: 401-444-3109 Electronic Mail Address: [email protected] EDUCATION Undergraduate Northeastern University, Boston, MA PhD in Chemical Engineering, 12/2009 Thesis title: Modeling the Influence of Drug Delivery Technologies on Oral Bioavailability of Low Solubility Drugs Sabanci University, Istanbul, Turkey Master of Science in Biological Sciences and Bioengineering, 7/2003 Thesis Title: Cytotoxicity of Peroxynitrite and Nitric Oxide Induced Oxidative Stress on 3T3 Fibroblast Cell Line Istanbul Technical University, Istanbul, Turkey Bachelor of Science in Chemical Engineering Graduated with honors, 6/2001 POSTGRADUATE TRAINING Fellowship Brown University, Providence, RI NIH Child T32 Postdoctoral Fellow, Dept. of Psychiatry and Human Behavior (Rhode Island Hospital) 9-2014 – Present Translational Neurosciences Postdoctoral Fellow 9-2012 - 8-2014 Lifespan Research Institute the Lifespan division of Psychiatry, the Brown Institute for Brain Science and the Norman Prince Neurosciences Institute Postdoctoral Fellow, Dept. of Molecular Biology, Cellular Biology and Biochemistry 1-2010 – 8-2012 Mentor: Dr. Eric Morrow 1 POSTGRADUATE HONORS AND AWARDS 2013 First Place in Department of Psychiatry and Human Behavior (DPHB) Research Day Postdoctoral Fellow Research Poster Competition 2012 First Place in Department of Psychiatry and Human Behavior (DPHB) Research Day Postdoctoral Fellow Research Poster Competition Spring 2010 Fellowship from the Institute for Brain Science at Brown University, Center for Vision Research Spring 2009 Fellowship from the Office of Provost at Northeastern University 2008 Research Assistantship from Simulations Plus, Inc., Lancaster, CA 2007 Northeastern University Outstanding Graduate Student Award in Teaching in Life Sciences, Physical Sciences and Engineering 2007 Northeastern University College of Engineering Outstanding Teaching Assistant Award 2007 Second Place in American Association of Pharmaceutical Scientists (AAPS), Northeast Regional Discussion Group Poster Competition 2007 First Place in International Society of Pharmaceutical Engineering (ISPE) New England Regional Poster Competition 2006-2008 Teaching Assistantship from Northeastern University 2004-2006 Research Assistantship from Pfizer Global Research and Development, Groton, CT 2003-2004 Teaching Assistant Accreditation, Northeastern University 2001-2003 Teaching Assistant from Sabanci University, Istanbul, Turkey ACADEMIC APPOINTMENTS Assistant Professor April 2016 - Present Department of Pathology and Laboratory Medicine, Alpert Medical School of Brown University HOSPITAL APPOINTMENTS Director of Clinical Bioinformatics March 2019 - Present Lifespan Academic Medical Center Rhode Island Hospital and Miriam Hospital 2 Bioinformatics Scientist April 2016 – March 2019 Lifespan Academic Medical Center Rhode Island Hospital and Miriam Hospital Molecular Pathology Lab OTHER APPOINTMENTS Affiliate Faculty April 2016 - Present Center for Computational Molecular Biology, Brown University HOSPITAL COMMITTEES Lifespan Research IT Council UNIVERSITY COMMITTEES CCMB PHD Admissions Committee EXTERNAL COMMITTEES Barrington School Advisory Committee for Diversity, Equity and Inclusivity MEMBERSHIP IN SOCIETIES American Society of Human Genetics Association for Molecular Pathology PUBLICATIONS LIST ORIGINAL PUBLICATIONS IN PEER-REVIEWED JOURNALS Marinelli, NA, Rosenzweig, S, Joesch-Cohen, L, Hollingsworth, EW, Douglas, A, Maguire, AM, Cowen, MM, Schmidt, M, Schorl, C, Imitola, J, Morrow, EM, Gamsiz Uzun, ED* and Lizarraga, SB*, “Valproic acid effect on first trimester stem cell derived human neurons shows dysregulation of mitochondrial and chromatin regulatory pathways”, In progress *Equal corresponding author Lizarraga, SB, Maguire AM, Ma L, van Dyck, LI, Wu, Q, Nagda, D, Livi, LL, Pescosolido, MF, Schmidt, M, Alabi, S, Cowen, MH, Brito-Vargas, P, Hoffman-Kim, D, Gamsiz Uzun, ED, Schlessinger, A, Jones, RN, Morrow, EM, “Human neurons from Christianson syndrome iPSCs reveal allele-specific responses to rescue strategies”, Submitted to Science Translational Medicine Von Werra, L, Schongens, M, Gamsiz Uzun, ED, Eickhoff, C, “Generative adversarial networks in precision oncology”, ICTIR 2019 Meeting Proceedings, Short Paper Lizarraga, SB, Maguire AM, Ma L, van Dyck, LI, Wu, Q, Nagda, D, Livi, LL, Pescosolido, MF, Schmidt, M, Alabi, S, Cowen, MH, Brito-Vargas, P, Hoffman-Kim, D, Gamsiz Uzun, ED, Schlessinger, A, Jones, RN, Morrow, EM, “Human neurons from Christianson syndrome iPSCs reveal allele-specific responses to rescue strategies”, bioRxiv, 2018 Xu, M, Ouyang, Q, Gong, J, Pescosolido, MF, Pruett, BS, Mishra, S, Schmidt, M, Jones, RN, Gamsiz Uzun, ED, Lizarraga, SB, Morrow, EM, “Mixed neurodevelopmental and neurodegenerative pathology in Nhe6-null mouse model of Christianson syndrome”, eNeuro 2017, 4(6). 3 PUBLICATIONS LIST - continued Harrison, AJ, Gamsiz, ED, Berkowitz, IC, Nagpal, S, Jerskey, BA, “Genetic Variation in the Oxytocin Receptor Gene is Associated with a Social Phenotype in Autism Spectrum Disorders, American Journal of Medical Genetics B: Neuropsychiatric Genetics 2015, 168(8). PMID: 26365303 Gamsiz, ED, Viscidi, EW, Nagpal, S, Sanders, SJ, Murtha, MT, Simons Simplex Collection Genetics Consortium, Istrail, S, Triche, EW, State, MW, Cook Jr, EH, Devlin, B Morrow, EM, “Intellectual Disability is Associated with Increased Runs of Homozygosity in Simplex Autism”, American Journal of Human Genetics 2013, 93(1):103-109. PMID: 23830515; PMC3710760 Pescosolido M, Schwede, M, Ashley, J, Schmidt, M, Gamsiz, ED, Phornphutkul, C, Morrow, EM, “Expansion of the Clinical Phenotype Associated with Mutations in Activity- Dependent Neuroprotective Protein”, Journal of Medical Genetics 2014, 51(9):587-9, PMID: 25057125; PMC4135390 Pescosolido, MF, Gamsiz ED, Nagpal, S, Morrow, EM, “Distribution of Disease- associated Copy Number Variants Across Distinct Disorders of Cognitive Development”. Journal of American Academy of Child and Adolescent Psychiatry 2013, 52(4):414-430. PMID: 23582872; PMC3774163 Gamsiz, ED, Thombre, A, Ahmed, I, Carrier, RL, “Model Predicting Impact of Complication with Cyclodextrins on Oral Absorption”. Biotechnology and Bioengineering 2013, 110(9);2536-47. PMID:23592239 Gamsiz, ED, Ouyang, Q, Schmidt, M, Nagpal, S, Morrow, EM, “Genome-wide Transcriptome Analysis in Murine Neural Retina Using High-throughput RNA Sequencing”, Genomics 2012, 99(1):44-51. PMID:22032952; PMC3392719 Gamsiz, ED, Thombre, A, Ahmed, I, Carrier, RL, “Drug Salts and Solubilization: Modeling the Influence of Cyclodextrins on Oral Absorption”, Annuals of Biomedical Engineering 2011, 39(1);455-68 PMID: 20960062 Gamsiz, ED, Ashtikar, M, Crison, J, Woltosz, W, Carrier, RL “Predicting the Effect of Fed State Intestinal Contents on Drug Dissolution”, Pharmaceutical Research 2010, 27(12):2646-56. PMID:20963629 Gamsiz, ED, Thombre, A, Miller, LA, Ahmed, I, Carrier, RL “Modeling the Influence of Cyclodextrins on Oral Absorption of Insoluble Drugs: 1. Model Development, Biotechnology and Bioengineering 2010, 105(2):409-420. PMID: 19725042 Gamsiz, ED, Thombre, A, Miller, LA, Ahmed, I Carrier, RL, “Modeling the Influence of Cyclodextrins on Oral Absorption of Insoluble Drugs: 2. Model Validation, Biotechnology and Bioengineering 2010, 105(2):421-430. PMID: 19725043 4 PUBLICATIONS LIST - continued Gamsiz, ED, Shah, L, Amiji, M, Carrier, RL, “A Model Predicting Delivery of Saquinavir in Nanoparticles to Human Monocyte/macrophage (Mo/Mac) cells”, Biotechnology and Bioengineering 2008, 101(5):1072-1082. PMID: 18553495 OTHER PEER-REVIEWED PUBLICATIONS Gamsiz, ED, Sciarra, LN, Maguire, AM, Pescosolido, MF, van Dyck, LI, Morrow, EM, “Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Pathways”, Neurotherapeutics 2015, 12(3): 553-71, PMID: 26105128; PMC4489950 ABSTRACTS Nam, G, Hui, Y, Edmund, L, Lombardo, KA, Uzun, ED, Patel ,NR, Garcia-Moliner, ML, Lu, S, Wang L, “Immune Microenvironment Markers (PD-L1, WARS, IDO) and Clinical Outcomes in Mucinous Lung Adenocarcinomas” USCAP 2018 Annual Meeting, Vancouver, Canada Edmund, L, Patel, NR, Uzun, ED, Lombardo, KA,Yakirevich, E, Mangray, S, Aswad, B, “STAT6 Expression in Adenofibroma of the Lung Supports Classification as Intrapulmonary Solitary Fibrous Tumor” USCAP 2018 Annual Meeting, Vancouver, Canada He, X, Uzun, ED, Jackson, C, Pisharodi, L, Patel, NR, “Validation of Alternative Pre- Stained Cytology Specimens for a Clinical Next-Generation Sequencing Assay” USCAP 2018 Annual Meeting, Vancouver, Canada Invited Speaker. Turkish Society of Medical Genetics. “Autism Genetics and Next Generation Sequencing Technologies” May 2015, Istanbul, Turkey Gamsiz, ED Viscidi, EW, Frederick A, Schmidt, M, Nagpal, S, Morrow, EM, “Runs-of- Homozygosity are Associated with Intellectual Disability and Female Gender in Simplex Autism” Proceedings of 14th Internatinal Congress of Human Genetics 2013, Boston. MA Gamsiz, ED, Viscidi, WE, Frederick, A, Morrow, EM “Intellectual Disability is Associated with Increased Runs of Homozygosity in Simplex Autism” Department of Psychiatry and Human Behavior (DPHB) Research Day 2013, Providence, RI Pescosolido, MF, Gamsiz ED, Nagpal, S, Morrow, EM “Pathway Analysis of Highly Recurrent Copy Number Variants in Neurodevelopmental Disorders, Proceedings of Society