Ornit Chiba-Falek
Professor in Neurology
Functional genomics
Non-coding regulatory variants in the human genome
Genetics of complex neurological diseases
Non-coding regulatory variants in the human genome
Genetics of complex neurological diseases
Current Appointments & Affiliations
- Professor in Neurology, Neurology, Behavioral Neurology, Neurology 2021
- Division Chief, Translational Brain Sciences in the Department of Neurology, Neurology, Clinical Science Departments 2019
- Professor in Pathology, Pathology, Clinical Science Departments 2020
- Associate of the Duke Initiative for Science & Society, Duke Science & Society, Initiatives 2018
Contact Information
- 311 Research Drive, Bryan Research Building, Room 201A, Durham, NC 27710
- Duke Box 2900, Durham, NC 27710
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o.chibafalek@duke.edu
(919) 681-8001
- Background
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Education, Training, & Certifications
- Ph.D., Hebrew University (Israel) 1999
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Previous Appointments & Affiliations
- Professor in Neurology, Neurology, Behavioral Neurology, Neurology 2019 - 2020
- Associate Professor of Neurology, Neurology, Behavioral Neurology, Neurology 2014 - 2019
- Assistant Professor in Neurology, Neurology, Behavioral Neurology, Neurology 2013 - 2014
- Assistant Professor in Medicine, Neurology, Clinical Science Departments 2007 - 2013
- Instructor, Temporary in the Department of Medicine, Neurology, Clinical Science Departments 2007
- Research
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Selected Grants
- Sex-dependent genetic landscape of late-onset Alzheimer's disease awarded by Alzheimer's Association 2022 - 2025
- Mechanisms of mitochondrial genome integrity in familial and idiopathic Parkinson's disease awarded by National Institutes of Health 2020 - 2025
- Untangling the diversity in the genetic architecture of late-onset Alzheimer's disease using single cell multi-omics awarded by National Institutes of Health 2022 - 2025
- Lewy body neuropathologies and SNCA gene: variants expression and splicing awarded by National Institutes of Health 2020 - 2025
- Duke Creating ADRD Researchers for the Next Generation - Stimulating Access to Research in Residency Program (CARiNG-StARR)" awarded by National Institutes of Health 2020 - 2024
- A novel gene-therapy strategy for Parkinson's disease (PD): Epigenome editing mediated-regulation of SNCA expression awarded by Michael J. Fox Foundation for Parkinson's Research 2022 - 2024
- Seelos SRA-PD Model Vectors Generation for CRO SLS004 awarded by Seelos Therapeutics 2022 - 2024
- Preparing Genetic Counselors for Genomic Medicine Research awarded by National Institutes of Health 2017 - 2023
- Deciphering the regulation of gene expression in the etiology of LOAD awarded by National Institutes of Health 2017 - 2023
- Duke CTSA (TL1) Year 5 awarded by National Institutes of Health 2018 - 2023
- Proteomic Determination of APOE4-induced Neuroinflammation in the Pathogenesis of Alzheimer's Disease awarded by Ruth K. Broad Biomedical Research Foundation 2020 - 2022
- Developing Novel Medicines to Treat Dystonia awarded by Department of Defense 2019 - 2022
- Hepara sulfate proteoglycan in Alzheimer's disease awarded by University of South Florida 2019 - 2021
- Shared genetic, epigenetic, and transcriptomic profiles between AD and PTSD: molecular insights into the heterogeneity of neuropsychiatric symptoms in Alzheimers Disease awarded by National Institutes of Health 2018 - 2020
- Role of the TOMM40 poly-T variant in the pathogenesis of Alzheimer's disease awarded by National Institutes of Health 2013 - 2020
- Lewy body neuropathologies and SNCA gene: variants expression and splicing awarded by National Institutes of Health 2013 - 2020
- ApoE, Alzheimers and Aging: discover the tripleA in iPSC-derived models awarded by Alzheimer's Association 2018 - 2019
- Immunosuppression in humans with AD awarded by National Institutes of Health 2016 - 2018
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External Relationships
- CLAIRIgene
- Seelos Therapeutics
- Publications & Artistic Works
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Selected Publications
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Books
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Grossman, I., M. W. Lutz, D. G. Crenshaw, A. M. Saunders, O. Chiba-Falek, W. K. Gottschalk, and A. D. Roses. Clinical Trials of AD Delay of Onset: Enrichment by a Prognostic Genetic Biomarker. Vol. 3, 2013. https://doi.org/10.1007/978-94-007-5866-7_7.Full Text
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Academic Articles
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Upadhya, Suraj, Daniel Gingerich, Michael William Lutz, and Ornit Chiba-Falek. “Differential Gene Expression and DNA Methylation in the Risk of Depression in LOAD Patients.” Biomolecules 12, no. 11 (November 12, 2022). https://doi.org/10.3390/biom12111679.Full Text Link to Item
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Whitson, Heather E., Carol Colton, Joseph El Khoury, David Gate, Alison Goate, Michael T. Heneka, Rima Kaddurah-Daouk, et al. “Infection and inflammation: New perspectives on Alzheimer's disease.” Brain Behav Immun Health 22 (July 2022): 100462. https://doi.org/10.1016/j.bbih.2022.100462.Full Text Link to Item
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Lutz, Michael W., and Ornit Chiba-Falek. “Bioinformatics pipeline to guide late-onset Alzheimer's disease (LOAD) post-GWAS studies: Prioritizing transcription regulatory variants within LOAD-associated regions.” Alzheimers Dement (N Y) 8, no. 1 (2022): e12244. https://doi.org/10.1002/trc2.12244.Full Text Link to Item
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Upadhya, Suraj, Hongliang Liu, Sheng Luo, Michael W. Lutz, and Ornit Chiba-Falek. “Polygenic Risk Score Effectively Predicts Depression Onset in Alzheimer's Disease Based on Major Depressive Disorder Risk Variants.” Front Neurosci 16 (2022): 827447. https://doi.org/10.3389/fnins.2022.827447.Full Text Open Access Copy Link to Item
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Chiba-Falek, O., and M. W. Lutz. “Bioinformatics pipeline to advance the identification of transcription regulatory variants in LOAD noncoding regions.” Alzheimer’S &Amp; Dementia : The Journal of the Alzheimer’S Association 17 (December 1, 2021): e050665. https://doi.org/10.1002/alz.050665.Full Text
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Gamache, J., J. Barrera, D. Gingerich, M. Garrett, D. Chipman, H. Fradin, A. Ashley-Koch, G. Crawford, and O. Chiba-Falek. “Parallel single-nucleus chromatin accessibility and transcriptomic profiling of human late-onset Alzheimer's disease brains.” Alzheimer’S &Amp; Dementia : The Journal of the Alzheimer’S Association 17 (December 1, 2021): e057261. https://doi.org/10.1002/alz.057261.Full Text
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Lam, Max, Chia-Yen Chen, Tian Ge, Yan Xia, David W. Hill, Joey W. Trampush, Jin Yu, et al. “Identifying nootropic drug targets via large-scale cognitive GWAS and transcriptomics.” Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology 46, no. 10 (September 2021): 1788–1801. https://doi.org/10.1038/s41386-021-01023-4.Full Text
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Upadhya, Suraj, Hongliang Liu, Sheng Luo, Michael W. Lutz, and Ornit Chiba-Falek. “Polygenic Risk Score Effectively Predicts Risk of Depression Onset in Alzheimer’s Disease,” August 27, 2021. https://doi.org/10.21203/rs.3.rs-845772/v1.Full Text
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Barrera, Julio, Lingyun Song, Julia E. Gamache, Melanie E. Garrett, Alexias Safi, Young Yun, Ivana Premasinghe, et al. “Sex dependent glial-specific changes in the chromatin accessibility landscape in late-onset Alzheimer's disease brains.” Mol Neurodegener 16, no. 1 (August 24, 2021): 58. https://doi.org/10.1186/s13024-021-00481-0.Full Text Link to Item
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MacDougall, Gabriella, Logan Y. Brown, Boris Kantor, and Ornit Chiba-Falek. “The Path to Progress Preclinical Studies of Age-Related Neurodegenerative Diseases: A Perspective on Rodent and hiPSC-Derived Models.” Mol Ther 29, no. 3 (March 3, 2021): 949–72. https://doi.org/10.1016/j.ymthe.2021.01.001.Full Text Link to Item
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Yang, Anna, Boris Kantor, and Ornit Chiba-Falek. “APOE: The New Frontier in the Development of a Therapeutic Target towards Precision Medicine in Late-Onset Alzheimer's.” Int J Mol Sci 22, no. 3 (January 27, 2021). https://doi.org/10.3390/ijms22031244.Full Text Link to Item
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Gu, Jeffrey, Julio Barrera, Young Yun, Susan K. Murphy, Thomas G. Beach, Randy L. Woltjer, Geidy E. Serrano, Boris Kantor, and Ornit Chiba-Falek. “Cell-Type Specific Changes in DNA Methylation of SNCA Intron 1 in Synucleinopathy Brains.” Front Neurosci 15 (2021): 652226. https://doi.org/10.3389/fnins.2021.652226.Full Text Link to Item
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Chen, Vivian, Malik Moncalvo, Dominic Tringali, Lidia Tagliafierro, Ahila Shriskanda, Ekaterina Ilich, Wendy Dong, Boris Kantor, and Ornit Chiba-Falek. “The mechanistic role of alpha-synuclein in the nucleus: impaired nuclear function caused by familial Parkinson's disease SNCA mutations.” Hum Mol Genet 29, no. 18 (November 4, 2020): 3107–21. https://doi.org/10.1093/hmg/ddaa183.Full Text Link to Item
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Angrist, Misha, Anna Yang, Boris Kantor, and Ornit Chiba-Falek. “Good problems to have? Policy and societal implications of a disease-modifying therapy for presymptomatic late-onset Alzheimer's disease.” Life Sci Soc Policy 16, no. 1 (October 12, 2020): 11. https://doi.org/10.1186/s40504-020-00106-2.Full Text Link to Item
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Lutz, Michael W., Sheng Luo, Douglas E. Williamson, and Ornit Chiba-Falek. “Shared genetic etiology underlying late-onset Alzheimer's disease and posttraumatic stress syndrome.” Alzheimers Dement 16, no. 9 (September 2020): 1280–92. https://doi.org/10.1002/alz.12128.Full Text Open Access Copy Link to Item
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Gamache, Julia, Young Yun, and Ornit Chiba-Falek. “Sex-dependent effect of APOE on Alzheimer's disease and other age-related neurodegenerative disorders.” Dis Model Mech 13, no. 8 (August 27, 2020). https://doi.org/10.1242/dmm.045211.Full Text Link to Item
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Lutz, Michael W., Daniel Sprague, Julio Barrera, and Ornit Chiba-Falek. “Shared genetic etiology underlying Alzheimer's disease and major depressive disorder.” Transl Psychiatry 10, no. 1 (March 9, 2020): 88. https://doi.org/10.1038/s41398-020-0769-y.Full Text Link to Item
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Rittiner, Joseph Edward, Malik Moncalvo, Ornit Chiba-Falek, and Boris Kantor. “Gene-Editing Technologies Paired With Viral Vectors for Translational Research Into Neurodegenerative Diseases.” Front Mol Neurosci 13 (2020): 148. https://doi.org/10.3389/fnmol.2020.00148.Full Text Link to Item
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Lutz, Michael W., Daniel Sprague, and Ornit Chiba-Falek. “Bioinformatics strategy to advance the interpretation of Alzheimer's disease GWAS discoveries: The roads from association to causation.” Alzheimers Dement 15, no. 8 (August 2019): 1048–58. https://doi.org/10.1016/j.jalz.2019.04.014.Full Text Link to Item
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Lam, Max, W David Hill, Joey W. Trampush, Jin Yu, Emma Knowles, Gail Davies, Eli Stahl, et al. “Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.” Am J Hum Genet 105, no. 2 (August 1, 2019): 334–50. https://doi.org/10.1016/j.ajhg.2019.06.012.Full Text Link to Item
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Davies, Gail, Max Lam, Sarah E. Harris, Joey W. Trampush, Michelle Luciano, W David Hill, Saskia P. Hagenaars, et al. “Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.” Nat Commun 10, no. 1 (May 1, 2019): 2068. https://doi.org/10.1038/s41467-019-10160-w.Full Text Link to Item
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Tagliafierro, Lidia, Ekaterina Ilich, Malik Moncalvo, Jeffrey Gu, Ahila Sriskanda, Carole Grenier, Susan K. Murphy, Ornit Chiba-Falek, and Boris Kantor. “Lentiviral Vector Platform for the Efficient Delivery of Epigenome-editing Tools into Human Induced Pluripotent Stem Cell-derived Disease Models.” J Vis Exp, no. 145 (March 29, 2019). https://doi.org/10.3791/59241.Full Text Link to Item
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Tagliafierro, Lidia, Madison Elena Zamora, and Ornit Chiba-Falek. “Multiplication of the SNCA locus exacerbates neuronal nuclear aging.” Hum Mol Genet 28, no. 3 (February 1, 2019): 407–21. https://doi.org/10.1093/hmg/ddy355.Full Text Link to Item
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Tseng, Elizabeth, William J. Rowell, Omolara-Chinue Glenn, Ting Hon, Julio Barrera, Steve Kujawa, and Ornit Chiba-Falek. “The Landscape of SNCA Transcripts Across Synucleinopathies: New Insights From Long Reads Sequencing Analysis.” Front Genet 10 (2019): 584. https://doi.org/10.3389/fgene.2019.00584.Full Text Link to Item
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Kantor, Boris, Lidia Tagliafierro, Jeffrey Gu, Madison E. Zamora, Ekaterina Ilich, Carole Grenier, Zhiqing Y. Huang, Susan Murphy, and Ornit Chiba-Falek. “Downregulation of SNCA Expression by Targeted Editing of DNA Methylation: A Potential Strategy for Precision Therapy in PD.” Mol Ther 26, no. 11 (November 7, 2018): 2638–49. https://doi.org/10.1016/j.ymthe.2018.08.019.Full Text Link to Item
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Lam, Max, Joey W. Trampush, Jin Yu, Emma Knowles, Srdjan Djurovic, Ingrid Melle, Kjetil Sundet, et al. “Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018).” Twin Res Hum Genet 21, no. 5 (October 2018): 394–97. https://doi.org/10.1017/thg.2018.46.Full Text Link to Item
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Afek, A., L. Tagliafierro, O. C. Glenn, D. B. Lukatsky, R. Gordan, and O. Chiba-Falek. “Toward deciphering the mechanistic role of variations in the Rep1 repeat site in the transcription regulation of SNCA gene.” Neurogenetics 19, no. 3 (August 2018): 135–44. https://doi.org/10.1007/s10048-018-0546-8.Full Text Link to Item
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Savage, Jeanne E., Philip R. Jansen, Sven Stringer, Kyoko Watanabe, Julien Bryois, Christiaan A. de Leeuw, Mats Nagel, et al. “Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.” Nat Genet 50, no. 7 (July 2018): 912–19. https://doi.org/10.1038/s41588-018-0152-6.Full Text Link to Item
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Davies, Gail, Max Lam, Sarah E. Harris, Joey W. Trampush, Michelle Luciano, W David Hill, Saskia P. Hagenaars, et al. “Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.” Nat Commun 9, no. 1 (May 29, 2018): 2098. https://doi.org/10.1038/s41467-018-04362-x.Full Text Link to Item
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Chiba-Falek, Ornit, William K. Gottschalk, and Michael W. Lutz. “The effects of the TOMM40 poly-T alleles on Alzheimer's disease phenotypes.” Alzheimers Dement 14, no. 5 (May 2018): 692–98. https://doi.org/10.1016/j.jalz.2018.01.015.Full Text Link to Item
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Barrera, Julio, Shobana Subramanian, and Ornit Chiba-Falek. “Probing the role of PPARγ in the regulation of late-onset Alzheimer's disease-associated genes.” Plos One 13, no. 5 (2018): e0196943. https://doi.org/10.1371/journal.pone.0196943.Full Text Link to Item
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Lam, Max, Joey W. Trampush, Jin Yu, Emma Knowles, Gail Davies, David C. Liewald, John M. Starr, et al. “Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.” Cell Rep 21, no. 9 (November 28, 2017): 2597–2613. https://doi.org/10.1016/j.celrep.2017.11.028.Full Text Link to Item
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Tagliafierro, Lidia, Omolara-Chinue Glenn, Madison E. Zamora, Thomas G. Beach, Randy L. Woltjer, Michael W. Lutz, and Ornit Chiba-Falek. “Genetic analysis of α-synuclein 3' untranslated region and its corresponding microRNAs in relation to Parkinson's disease compared to dementia with Lewy bodies.” Alzheimers Dement 13, no. 11 (November 2017): 1237–50. https://doi.org/10.1016/j.jalz.2017.03.001.Full Text Link to Item
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Trampush, J. W., M. L. Z. Yang, J. Yu, E. Knowles, G. Davies, D. C. Liewald, J. M. Starr, et al. “GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.” Mol Psychiatry 22, no. 11 (November 2017): 1651–52. https://doi.org/10.1038/mp.2017.197.Full Text Link to Item
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Chiba-Falek, Ornit. “Structural variants in SNCA gene and the implication to synucleinopathies.” Curr Opin Genet Dev 44 (June 2017): 110–16. https://doi.org/10.1016/j.gde.2017.01.014.Full Text Link to Item
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Subramanian, Shobana, William K. Gottschalk, So Young Kim, Allen D. Roses, and Ornit Chiba-Falek. “The effects of PPARγ on the regulation of the TOMM40-APOE-C1 genes cluster.” Biochim Biophys Acta Mol Basis Dis 1863, no. 3 (March 2017): 810–16. https://doi.org/10.1016/j.bbadis.2017.01.004.Full Text Link to Item
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Trampush, J. W., M. L. Z. Yang, J. Yu, E. Knowles, G. Davies, D. C. Liewald, J. M. Starr, et al. “GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.” Mol Psychiatry 22, no. 3 (March 2017): 336–45. https://doi.org/10.1038/mp.2016.244.Full Text Link to Item
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Chiba-Falek, Ornit, and Michael W. Lutz. “Towards precision medicine in Alzheimer's disease: deciphering genetic data to establish informative biomarkers.” Expert Rev Precis Med Drug Dev 2, no. 1 (2017): 47–55. https://doi.org/10.1080/23808993.2017.1286227.Full Text Link to Item
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Glenn, Omolara-Chinue, Lidia Tagliafierro, Thomas G. Beach, Randy L. Woltjer, and Ornit Chiba-Falek. “Interpreting Gene Expression Effects of Disease-Associated Variants: A Lesson from SNCA rs356168.” Front Genet 8 (2017): 133. https://doi.org/10.3389/fgene.2017.00133.Full Text Link to Item
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Saul, Robert, Michael W. Lutz, Daniel K. Burns, Allen D. Roses, and Ornit Chiba-Falek. “The SSV Evaluation System: A Tool to Prioritize Short Structural Variants for Studies of Possible Regulatory and Causal Variants.” Hum Mutat 37, no. 9 (September 2016): 877–83. https://doi.org/10.1002/humu.23023.Full Text Link to Item
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Tagliafierro, Lidia, Kirsten Bonawitz, Omolara C. Glenn, and Omit Chiba-Falek. “Gene Expression Analysis of Neurons and Astrocytes Isolated by Laser Capture Microdissection from Frozen Human Brain Tissues.” Frontiers in Molecular Neuroscience 9 (August 18, 2016). https://doi.org/10.3382/fnmol.2016.00072.Full Text Link to Item
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Tagliafierro, L., and O. Chiba-Falek. “Up-regulation of SNCA gene expression: implications to synucleinopathies.” Neurogenetics 17, no. 3 (July 2016): 145–57. https://doi.org/10.1007/s10048-016-0478-0.Full Text Link to Item
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Gottschalk, William K., Mirta Mihovilovic, Allen D. Roses, and Ornit Chiba-Falek. “The Role of Upregulated APOE in Alzheimer's Disease Etiology.” J Alzheimers Dis Parkinsonism 6, no. 1 (March 2016). https://doi.org/10.4172/2161-0460.1000209.Full Text Link to Item
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Tagliafierro, Lidia, Kirsten Bonawitz, Omolara C. Glenn, and Ornit Chiba-Falek. “Gene Expression Analysis of Neurons and Astrocytes Isolated by Laser Capture Microdissection from Frozen Human Brain Tissues.” Front Mol Neurosci 9 (2016): 72. https://doi.org/10.3389/fnmol.2016.00072.Full Text Link to Item
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Roses, Allen D., P Anthony Akkari, Ornit Chiba-Falek, Michael W. Lutz, William Kirby Gottschalk, Ann Marie Saunders, Bob Saul, Scott Sundseth, and Daniel Burns. “Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing.” Expert Opin Drug Metab Toxicol 12, no. 2 (2016): 135–47. https://doi.org/10.1517/17425255.2016.1133586.Full Text Link to Item
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Lutz, Michael W., Robert Saul, Colton Linnertz, Omolara-Chinue Glenn, Allen D. Roses, and Ornit Chiba-Falek. “A cytosine-thymine (CT)-rich haplotype in intron 4 of SNCA confers risk for Lewy body pathology in Alzheimer's disease and affects SNCA expression.” Alzheimers Dement 11, no. 10 (October 2015): 1133–43. https://doi.org/10.1016/j.jalz.2015.05.011.Full Text Link to Item
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Gottschalk, William K., Michael W. Lutz, Yu Ting He, Ann M. Saunders, Daniel K. Burns, Allen D. Roses, and Ornit Chiba-Falek. “The Broad Impact of TOM40 on Neurodegenerative Diseases in Aging.” J Parkinsons Dis Alzheimers Dis 1, no. 1 (November 2014). https://doi.org/10.13188/2376-922X.1000003.Full Text Link to Item
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Roses, Allen D., Michael W. Lutz, Ann M. Saunders, Dmitry Goldgaber, Robert Saul, Scott S. Sundseth, P Anthony Akkari, et al. “African-American TOMM40'523-APOE haplotypes are admixture of West African and Caucasian alleles.” Alzheimers Dement 10, no. 6 (November 2014): 592-601.e2. https://doi.org/10.1016/j.jalz.2014.06.009.Full Text Link to Item
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Linnertz, Colton, Michael W. Lutz, John F. Ervin, Jawara Allen, Natalie R. Miller, Kathleen A. Welsh-Bohmer, Allen D. Roses, and Ornit Chiba-Falek. “The genetic contributions of SNCA and LRRK2 genes to Lewy Body pathology in Alzheimer's disease.” Hum Mol Genet 23, no. 18 (September 15, 2014): 4814–21. https://doi.org/10.1093/hmg/ddu196.Full Text Link to Item
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Linnertz, Colton, Lauren Anderson, William Gottschalk, Donna Crenshaw, Michael W. Lutz, Jawara Allen, Sunita Saith, et al. “The cis-regulatory effect of an Alzheimer's disease-associated poly-T locus on expression of TOMM40 and apolipoprotein E genes.” Alzheimers Dement 10, no. 5 (September 2014): 541–51. https://doi.org/10.1016/j.jalz.2013.08.280.Full Text Link to Item
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Chen, Jia, Wei Li, Tao Zhang, Yan-jiang Wang, Xiao-jiang Jiang, and Zhi-qiang Xu. “Glucocerebrosidase gene mutations associated with Parkinson's disease: a meta-analysis in a Chinese population.” Plos One 9, no. 12 (2014): e115747. https://doi.org/10.1371/journal.pone.0115747.Full Text Link to Item
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Davies, G., S. E. Harris, C. A. Reynolds, A. Payton, H. M. Knight, D. C. Liewald, L. M. Lopez, et al. “A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.” Mol Psychiatry 19, no. 1 (January 2014): 76–87. https://doi.org/10.1038/mp.2012.159.Full Text Link to Item
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Browndyke, Jeffrey N., Kelly Giovanello, Jeffrey Petrella, Kathleen Hayden, Ornit Chiba-Falek, Karen A. Tucker, James R. Burke, and Kathleen A. Welsh-Bohmer. “Phenotypic regional functional imaging patterns during memory encoding in mild cognitive impairment and Alzheimer's disease.” Alzheimers Dement 9, no. 3 (May 2013): 284–94. https://doi.org/10.1016/j.jalz.2011.12.006.Full Text Open Access Copy Link to Item
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Smith, Patrick J., Anna C. Need, Elizabeth T. Cirulli, Ornit Chiba-Falek, and Deborah K. Attix. “A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with "traditional" neuropsychological testing instruments.” J Clin Exp Neuropsychol 35, no. 3 (2013): 319–28. https://doi.org/10.1080/13803395.2013.771618.Full Text Link to Item
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Chiba-Falek, Ornit, Colton Linnertz, John Guyton, Stephen D. Gardner, Allen D. Roses, Jeanette J. McCarthy, and Keyur Patel. “Pleiotropy and allelic heterogeneity in the TOMM40-APOE genomic region related to clinical and metabolic features of hepatitis C infection.” Hum Genet 131, no. 12 (December 2012): 1911–20. https://doi.org/10.1007/s00439-012-1220-0.Full Text Link to Item
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Hayden, Kathleen M., Jill M. McEvoy, Colton Linnertz, Deborah Attix, Maragatha Kuchibhatla, Ann M. Saunders, Michael W. Lutz, Kathleen A. Welsh-Bohmer, Allen D. Roses, and Ornit Chiba-Falek. “A homopolymer polymorphism in the TOMM40 gene contributes to cognitive performance in aging.” Alzheimers Dement 8, no. 5 (September 2012): 381–88. https://doi.org/10.1016/j.jalz.2011.10.005.Full Text Link to Item
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McCarthy, Jeanette J., Sunita Saith, Colton Linnertz, James R. Burke, Christine M. Hulette, Kathleen A. Welsh-Bohmer, and Ornit Chiba-Falek. “The Alzheimer's associated 5' region of the SORL1 gene cis regulates SORL1 transcripts expression.” Neurobiol Aging 33, no. 7 (July 2012): 1485.e1-1485.e8. https://doi.org/10.1016/j.neurobiolaging.2010.10.004.Full Text Link to Item
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Linnertz, Colton, Ann M. Saunders, Michael W. Lutz, Donna M. Crenshaw, Iris Grossman, Daniel K. Burns, Keith E. Whitfield, et al. “Characterization of the poly-T variant in the TOMM40 gene in diverse populations.” Plos One 7, no. 2 (2012): e30994. https://doi.org/10.1371/journal.pone.0030994.Full Text Link to Item
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Cirulli, Elizabeth T., Deborah K. Attix, Patrick J. Smith, Ornit Chiba-Falek, Tracy O’Connor Pennuto, Kristen N. Linney, and David B. Goldstein. “Contribution of pastimes and testing strategies to the performance of healthy volunteers on cognitive tests.” Clin Neuropsychol 25, no. 5 (July 2011): 778–98. https://doi.org/10.1080/13854046.2011.578587.Full Text Link to Item
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McCarthy, Jeanette J., Colton Linnertz, Laura Saucier, James R. Burke, Christine M. Hulette, Kathleen A. Welsh-Bohmer, and Ornit Chiba-Falek. “The effect of SNCA 3' region on the levels of SNCA-112 splicing variant.” Neurogenetics 12, no. 1 (February 2011): 59–64. https://doi.org/10.1007/s10048-010-0263-4.Full Text Link to Item
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Chiba-Falek, Ornit, Marshall Nichols, Sunil Suchindran, John Guyton, Geoffrey S. Ginsburg, Elizabeth Barrett-Connor, and Jeanette J. McCarthy. “Impact of gene variants on sex-specific regulation of human Scavenger receptor class B type 1 (SR-BI) expression in liver and association with lipid levels in a population-based study.” Bmc Med Genet 11 (January 19, 2010): 9. https://doi.org/10.1186/1471-2350-11-9.Full Text Open Access Copy Link to Item
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Chiba Falek, O., M. Nichols, S. Suchindran, J. R. Guyton, G. S. Ginsburg, E. Barrett Connor, and J. J. McCarthy. “Sex-specific effects of scavenger receptor class B type 1 (SR-BI) gene variants on serum lipid levels and hepatic gene expression.” Bmc Medical Genetics 11, no. 1 (January 2010): 9.
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Heinzen, Erin L., Anna C. Need, Kathleen M. Hayden, Ornit Chiba-Falek, Allen D. Roses, Warren J. Strittmatter, James R. Burke, Christine M. Hulette, Kathleen A. Welsh-Bohmer, and David B. Goldstein. “Genome-wide scan of copy number variation in late-onset Alzheimer's disease.” J Alzheimers Dis 19, no. 1 (2010): 69–77. https://doi.org/10.3233/JAD-2010-1212.Full Text Open Access Copy Link to Item
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Linnertz, Colton, Laura Saucier, Dongliang Ge, Kenneth D. Cronin, James R. Burke, Jeffrey N. Browndyke, Christine M. Hulette, Kathleen A. Welsh-Bohmer, and Ornit Chiba-Falek. “Genetic regulation of alpha-synuclein mRNA expression in various human brain tissues.” Plos One 4, no. 10 (October 16, 2009): e7480. https://doi.org/10.1371/journal.pone.0007480.Full Text Link to Item
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Cronin, Kenneth D., Dongliang Ge, Paul Manninger, Colton Linnertz, Anna Rossoshek, Bonnie M. Orrison, David J. Bernard, et al. “Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain.” Hum Mol Genet 18, no. 17 (September 1, 2009): 3274–85. https://doi.org/10.1093/hmg/ddp265.Full Text Link to Item
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Chiba-Falek, O., G. J. Lopez, and R. L. Nussbaum. “Reply: Expression of α-synuclein mRNA in Parkinson's disease [3].” Movement Disorders 22, no. 7 (May 15, 2007): 1057. https://doi.org/10.1002/mds.21498.Full Text
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Chiba-Falek, Ornit, Grisel J. Lopez, and Robert L. Nussbaum. “Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients.” Mov Disord 21, no. 10 (October 2006): 1703–8. https://doi.org/10.1002/mds.21007.Full Text Link to Item
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Chiba-Falek, Ornit, Jeffrey A. Kowalak, Mark E. Smulson, and Robert L. Nussbaum. “Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene.” Am J Hum Genet 76, no. 3 (March 2005): 478–92. https://doi.org/10.1086/428655.Full Text Link to Item
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Nissim-Rafinia, Malka, Micha Aviram, Scott H. Randell, Liat Shushi, Efrat Ozeri, Ornit Chiba-Falek, Ofer Eidelman, Harvey B. Pollard, James R. Yankaskas, and Batsheva Kerem. “Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation.” Embo Rep 5, no. 11 (November 2004): 1071–77. https://doi.org/10.1038/sj.embor.7400273.Full Text Link to Item
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Chiba-Falek, Ornit, Jeffrey W. Touchman, and Robert L. Nussbaum. “Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene.” Hum Genet 113, no. 5 (October 2003): 426–31. https://doi.org/10.1007/s00439-003-1002-9.Full Text Link to Item
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Chiba-Falek, O., and R. L. Nussbaum. “Regulation of alpha-synuclein expression: implications for Parkinson's disease.” Cold Spring Harb Symp Quant Biol 68 (2003): 409–15. https://doi.org/10.1101/sqb.2003.68.409.Full Text Link to Item
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Chiba-Falek, O., and R. L. Nussbaum. “Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system.” Hum Mol Genet 10, no. 26 (December 15, 2001): 3101–9. https://doi.org/10.1093/hmg/10.26.3101.Full Text Link to Item
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Touchman, J. W., A. Dehejia, O. Chiba-Falek, D. E. Cabin, J. R. Schwartz, B. M. Orrison, M. H. Polymeropoulos, and R. L. Nussbaum. “Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element.” Genome Res 11, no. 1 (January 2001): 78–86. https://doi.org/10.1101/gr.165801.Full Text Link to Item
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Chiba-Falek, O., B. M. Orrison, J. W. Touchman, A. Dehejia, M. H. Polymeropoulos, and R. L. Nussbaum. “Analysis of the human alpha-synuclein promoter.” American Journal of Human Genetics 67, no. 4 (October 1, 2000): 194–194.Link to Item
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Nissim-Rafinia, M., O. Chiba-Falek, and B. Kerem. “Modification of the CFTR splicing pattern by cellular and viral splicing factors in CFTR expressing cells.” American Journal of Human Genetics 67, no. 4 (October 1, 2000): 38–38.Link to Item
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Nissim-Rafinia, M., O. Chiba-Falek, G. Sharon, A. Boss, and B. Kerem. “Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations.” Hum Mol Genet 9, no. 12 (July 22, 2000): 1771–78. https://doi.org/10.1093/hmg/9.12.1771.Full Text Link to Item
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Chiba-Falek, O., E. Kerem, M. Nissim-Raffinia, A. Tai, M. Aviram, A. Augarten, and B. Kerem. “Association between changes with time in the level of aberrantly spliced CFTR mRNA, and CF lung disease severity.” American Journal of Human Genetics 65, no. 4 (October 1, 1999): A288–A288.Link to Item
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Nissim-Rafinia, M., O. Chiba-Falek, E. Kerem, and B. Kerem. “In vivo modulation of the splicing pattern of CFTR exon 9 by cellular and viral splicing factors.” American Journal of Human Genetics 65, no. 4 (October 1, 1999): A502–A502.Link to Item
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Chiba-Falek, O., R. B. Parad, E. Kerem, and B. Kerem. “Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation.” Am J Respir Crit Care Med 159, no. 6 (June 1999): 1998–2002. https://doi.org/10.1164/ajrccm.159.6.9808012.Full Text Link to Item
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Chiba-Falek, O., E. Kerem, T. Shoshani, M. Aviram, A. Augarten, L. Bentur, A. Tal, E. Tullis, A. Rahat, and B. Kerem. “The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation.” Genomics 53, no. 3 (November 1, 1998): 276–83. https://doi.org/10.1006/geno.1998.5517.Full Text Link to Item
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Chiba-Falek, O., M. Nissim-Rafinia, Z. Argaman, A. Genem, I. Moran, E. Kerem, and B. Kerem. “Screening of CFTR mutations in an isolated population: identification of carriers and patients.” Eur J Hum Genet 6, no. 2 (1998): 181–84. https://doi.org/10.1038/sj.ejhg.5200174.Full Text Link to Item
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Kerem, E., N. Rave-Harel, A. Augarten, I. Madgar, M. Nissim-Rafinia, Y. Yahav, R. Goshen, et al. “A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.” Am J Respir Crit Care Med 155, no. 6 (June 1997): 1914–20. https://doi.org/10.1164/ajrccm.155.6.9196095.Full Text Link to Item
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Kerem, B., O. Chiba-Falek, and E. Kerem. “Cystic fibrosis in Jews: frequency and mutation distribution.” Genet Test 1, no. 1 (1997): 35–39. https://doi.org/10.1089/gte.1997.1.35.Full Text Link to Item
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Rave-Harel, N., I. Madgar, R. Goshen, M. Nissim-Rafinia, A. Ziadni, A. Rahat, O. Chiba, Y. M. Kalman, C. Brautbar, and D. Levinson. “CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.” Am J Hum Genet 56, no. 6 (June 1995): 1359–66.Link to Item
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Book Sections
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Kantor, B., and O. Chiba-Falek. “Lentiviral vectors as the delivery vehicles for transduction into iPSCs: Shortcomings and benefits.” In Methods in IPSC Technology, 79–100, 2021. https://doi.org/10.1016/B978-0-323-85766-6.00005-X.Full Text
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Conference Papers
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Chiba-Falek, Ornit, and Boris Kantor. “APOE-Targeted Epigenome Therapy for Alzheimer's Disease.” In Molecular Therapy, 30:459–459, 2022.Link to Item
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Kantor, Boris, and Ornit Chiba-Falek. “Bimodular CRISPR/Cas-lentiviral Vector for Modeling Diseases.” In Molecular Therapy, 30:93–94, 2022.Link to Item
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Chiba-Falek, Ornit, Ashley Kilgore, Gabriella MacDougall, Joseph Rittiner, and Boris Kantor. “Epigenome-Base Strategies for Efficient and Safe Editing of APOE epsilon 4 Allele: Implications for Alzheimer's Disease.” In Molecular Therapy, 29:200–200, 2021.Link to Item
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Gupta, Ishika, Boris Kantor, Ornit Chiba-Falek, and Misha Angrist. “Policies and Pitfalls: What the Alzheimer's Community Can Learn from the Deployment of Disease-Modifying Therapies for Multiple Sclerosis Patients.” In Molecular Therapy, 29:278–278, 2021.Link to Item
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Kantor, Boris, Wendy Dong, Joseph Rittiner, Jordan Poe, and Ornit Chiba-Falek. “Downregulation of SNCA Expression as a Therapoetic Approach for Parkinson's Disease and Other Synucleinopathies: New Target Validation for Next-Generation Drug Discovery.” In Molecular Therapy, 29:265–66, 2021.Link to Item
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Upadhya, Suraj, Michael Lutz, and Ornit Chiba-Falek. “Using Functional SNPs to Calculate a Polygenic Risk Score for LOAD.” In Molecular Therapy, 29:274–75, 2021.Link to Item
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Yang, Anna, Boris Kantor, and Ornit Chiba-Falek. “The New Frontier in the Development of LOAD Therapies Targeting APOE.” In Molecular Therapy, 29:203–203, 2021.Link to Item
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Asmus, Natalie, Malik Moncalvo, Wendy Dong, Ekaterina Ilich, Carmel Falek, Joseph Rittiner, Domenic Tringali, et al. “Epigenetic Downregulation of ApoE4 for Alzheimer's Disease.” In Molecular Therapy, 28:430–430, 2020.Link to Item
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Chiba-Falek, Ornit, Domenic Tringali, Young Yun, Malik Molcavno, Angela Wei, Joseph Rittiner, Natalie Asmus, et al. “Allele Specific Knockdown of APOE e4 Expression: A Novel Platform for Precision Gene Therapy in Alzheimer's Disease.” In Molecular Therapy, 28:323–24, 2020.Link to Item
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Kantor, Boris, Joseph Rittiner, Malik Moncalvo, Ekaterina Ilich, Wendy Dong, Natalie Asmus, Carmel Falek, et al. “Development of Lentiviral Platform for Allele-Specific Targeted Down-Regulation of APOEe4 Expression: Epigenetic Therapy for Precision Medicine in Alzheimer's Disease.” In Molecular Therapy, 28:431–32, 2020.Link to Item
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Wei, Angela, Domenic Tringali, Natalie Asmus, Anna Yang, Boris Kantor, Misha Angrist, and Ornit Chiba-Falek. “An Isogenic hiPSC-Derived Model System for Establishing Gene Therapy Approaches in Alzheimer's Disease.” In Molecular Therapy, 28:481–481, 2020.Link to Item
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Yang, Anna, Ornit Chiba-Falek, Boris Kantor, Angela Wei, Natalie Asmus, and Misha Angrist. “Implications of Gene Therapy for Alzheimer's.” In Molecular Therapy, 28:322–23, 2020.Link to Item
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Chiba-Falek, Ornit, Lidia Tagliafierro, Ekaterina Ilich, Ahila Sriskanda, and Boris Kantor. “The New Epigenome-Editing Approach for Targeting Dysregulated SNCA Expression: Novel Target Validation for Next-Generation Drug Discovery.” In Molecular Therapy, 27:35–35. CELL PRESS, 2019.Link to Item
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Kantor, Boris, Ekaterina Ilich, Lidia Tagliafierro, and Ornit Chiba-Falek. “Integrase-Deficient Lentiviral Vector for Efficient CRISPR/Cas9-Mediated Gene and Epigenome-Editing Applications.” In Molecular Therapy, 27:101–101. CELL PRESS, 2019.Link to Item
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Savage, Jeanne E., Philip R. Jansen, Sven Stringer, Kyoko Watanabe, Julien Bryois, Christiaan A. de Leeuw, Mats Nagel, et al. “GWAS meta-analysis (N=279,930) identifies new genes and functional links to general cognitive ability.” In Human Genomics, Vol. 12. BIOMED CENTRAL LTD, 2018.Link to Item
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Davies, Gail, Sarah Harris, Chandra Reynolds, Antony Payton, David Liewald, Lorna Lopez, Michelle Luciano, et al. “A Genome-wide association study of non-pathological cognitive ageing.” In Behavior Genetics, 42:927–927. SPRINGER, 2012.Link to Item
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- Teaching & Mentoring
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Recent Courses
- BIOLOGY 493: Research Independent Study 2022
- BRAINSOC 395-1: Bass Connections in Brain and Society: Interdisciplinary Team Projects 2022
- BRAINSOC 395: Bass Connections in Brain and Society: Interdisciplinary Team Projects 2022
- BRAINSOC 395T: Bass Connections in Brain & Society Research Team 2022
- BRAINSOC 396-1: Bass Connections in Brain and Society 2: Interdisciplinary Team Projects 2022
- BRAINSOC 396: Bass Connections in Brain and Society 2: Interdisciplinary Team Projects 2022
- BRAINSOC 396T: Bass Connections in Brain & Society Research Team 2022
- BRAINSOC 397-1: Bass Connections in Brain and Society 3: Interdisciplinary Team Projects 2022
- BRAINSOC 397: Bass Connections in Brain and Society 3: Interdisciplinary Team Projects 2022
- BRAINSOC 397T: Bass Connections in Brain & Society Research Team 2022
- BRAINSOC 398-1: Bass Connections in Brain and Society 4: Interdisciplinary Team Projects 2022
- BRAINSOC 398: Bass Connections in Brain and Society 4: Interdisciplinary Team Projects 2022
- BRAINSOC 398T: Bass Connections in Brain & Society Research Team 2022
- BRAINSOC 795T: Bass Connections in Brain & Society Research Team 2022
- BRAINSOC 796T: Bass Connections in Brain & Society Research Team 2022
- NEUROSCI 493: Research Independent Study 1 2022
- BIOLOGY 493: Research Independent Study 2021
- BRAINSOC 395-1: Bass Connections in Brain and Society: Interdisciplinary Team Projects 2021
- BRAINSOC 395: Bass Connections in Brain and Society: Interdisciplinary Team Projects 2021
- BRAINSOC 395T: Bass Connections in Brain & Society Research Team 2021
- BRAINSOC 396-1: Bass Connections in Brain and Society 2: Interdisciplinary Team Projects 2021
- BRAINSOC 396: Bass Connections in Brain and Society 2: Interdisciplinary Team Projects 2021
- BRAINSOC 396T: Bass Connections in Brain & Society Research Team 2021
- BRAINSOC 397-1: Bass Connections in Brain and Society 3: Interdisciplinary Team Projects 2021
- BRAINSOC 397: Bass Connections in Brain and Society 3: Interdisciplinary Team Projects 2021
- BRAINSOC 397T: Bass Connections in Brain & Society Research Team 2021
- BRAINSOC 398-1: Bass Connections in Brain and Society 4: Interdisciplinary Team Projects 2021
- BRAINSOC 398: Bass Connections in Brain and Society 4: Interdisciplinary Team Projects 2021
- BRAINSOC 398T: Bass Connections in Brain & Society Research Team 2021
- BRAINSOC 795T: Bass Connections in Brain & Society Research Team 2021
- BRAINSOC 796T: Bass Connections in Brain & Society Research Team 2021
- NEUROSCI 495: Research Independent Study 3 2021
- Scholarly, Clinical, & Service Activities
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Outreach & Engaged Scholarship
- Bass Connections Team Leader. Treating Alzheimer's with Gene Therapy and the Ethical, Legal and Social Implications. 2021 - 2022 2021 - 2022
- Bass Connections Team Leader. Gene Therapy for Alzheimer's Disease and Ethical Aspects of Genome Editing. 2020 - 2021 2020 - 2021
- Bass Connections Team Leader. Gene Therapy in Alzheimer's Disease: Novel Therapies and Ethical Aspects of Somatic Gene Editing. 2019 - 2020 2019 - 2020
- Bass Connections Faculty Team Member. Brain-immune Interactions in Neurodegenerative Disease. August 2016 - May 2017 2016 - 2017
- Bass Connections Faculty Team Member. Brain-immune Interactions in Neurodegenerative Disease. July 2015 - May 2016 2015 - 2016
- Bass Connections Faculty Team Member . Brain-immune Interactions in Neurodegenerative Disease. August 2014 - May 2015 2014 - 2015
Some information on this profile has been compiled automatically from Duke databases and external sources. (Our About page explains how this works.) If you see a problem with the information, please write to Scholars@Duke and let us know. We will reply promptly.