Ornit Chiba-Falek | Scholars@Duke

Ornit Chiba-Falek
Associate Professor of Neurology

Functional genomics
Non-coding regulatory variants in the human genome
Genetics of complex neurological diseases

Current Appointments & Affiliations

Associate Professor of Neurology, Neurology, Behavioral Neurology, Neurology 2014

Contact Information

311 Research Drive, Bryan Research Building, Room 201A, Durham, NC 27710
Duke Box 2900, Durham, NC 27710
o.chibafalek@duke.edu (919) 681-8001

Background
Education, Training, & Certifications
- Ph.D., Hebrew University 1999
Duke Appointment History
- 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
Selected Grants
- Summer Scholars Program in Genome Sciences and Medicine awarded by National Institutes of Health 2017 - 2022
- Deciphering the regulation of gene expression in the etiology of LOAD awarded by National Institutes of Health 2017 - 2022
- Role of the TOMM40 poly-T variant in the pathogenesis of Alzheimer's disease awarded by National Institutes of Health 2013 - 2019
- Lewy body neuropathologies and SNCA gene: variants expression and splicing awarded by National Institutes of Health 2013 - 2018
- Immunosuppression in humans with AD awarded by National Institutes of Health 2016 - 2018
Publications & Artistic Works
Selected Publications
- Conference Papers
  - Davies, G, Harris, S, Reynolds, C, Payton, A, Liewald, D, Lopez, L, Luciano, M, Gow, A, Corley, J, Henderson, R, Murray, C, Pattie, A, Fox, H, Redmond, P, Lutz, M, Chiba-Falek, O, Linnertz, C, Saith, S, Knight, H, Haggarty, P, McNeill, G, Ollier, W, Horan, M, Roses, A, Ponting, C, Porteous, D, Tenesa, A, Pickles, A, Starr, J, Whalley, L, Pedersen, N, Pendleton, N, Visscher, P, and Deary, I. "A Genome-wide association study of non-pathological cognitive ageing." November 2012. Link to Item
- Journal Articles
  - Chiba-Falek, O, Gottschalk, WK, and Lutz, MW. "The effects of the TOMM40 poly-T alleles on Alzheimer's disease phenotypes." Alzheimer's & dementia : the journal of the Alzheimer's Association (March 7, 2018). Full Text
  - Lam, M, Trampush, JW, Yu, J, Knowles, E, Davies, G, Liewald, DC, Starr, JM, Djurovic, S, Melle, I, Sundet, K, Christoforou, A, Reinvang, I, DeRosse, P, Lundervold, AJ, Steen, VM, Espeseth, T, Räikkönen, K, Widen, E, Palotie, A, Eriksson, JG, Giegling, I, Konte, B, Roussos, P, Giakoumaki, S, Burdick, KE, Payton, A, Ollier, W, Chiba-Falek, O, Attix, DK, Need, AC, Cirulli, ET, Voineskos, AN, Stefanis, NC, Avramopoulos, D, Hatzimanolis, A, Arking, DE, Smyrnis, N, Bilder, RM, Freimer, NA, and Cannon, TD et al. "Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets." Cell reports 21, no. 9 (November 2017): 2597-2613. Full Text
  - Tagliafierro, L, Glenn, O-C, Zamora, ME, Beach, TG, Woltjer, RL, Lutz, MW, and Chiba-Falek, O. "Genetic analysis of α-synuclein 3' untranslated region and its corresponding microRNAs in relation to Parkinson's disease compared to dementia with Lewy bodies." Alzheimer's & dementia : the journal of the Alzheimer's Association 13, no. 11 (November 2017): 1237-1250. Full Text
  - Trampush, JW, Yang, MLZ, Yu, J, Knowles, E, Davies, G, Liewald, DC, Starr, JM, Djurovic, S, Melle, I, Sundet, K, Christoforou, A, Reinvang, I, DeRosse, P, Lundervold, AJ, Steen, VM, Espeseth, T, Räikkönen, K, Widen, E, Palotie, A, Eriksson, JG, Giegling, I, Konte, B, Roussos, P, Giakoumaki, S, Burdick, KE, Payton, A, Ollier, W, Horan, M, Chiba-Falek, O, Attix, DK, Need, AC, Cirulli, ET, Voineskos, AN, Stefanis, NC, Avramopoulos, D, Hatzimanolis, A, Arking, DE, Smyrnis, N, and Bilder, RM et al. "GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium." Molecular psychiatry 22, no. 11 (November 2017): 1651-1652. Full Text
  - Chiba-Falek, O. "Structural variants in SNCA gene and the implication to synucleinopathies." Current opinion in genetics & development 44 (June 2017): 110-116. (Review) Full Text
  - Subramanian, S, Gottschalk, WK, Kim, SY, Roses, AD, and Chiba-Falek, O. "The effects of PPARγ on the regulation of the TOMM40-APOE-C1 genes cluster." Biochimica et biophysica acta 1863, no. 3 (March 2017): 810-816. Full Text
  - Trampush, JW, Yang, MLZ, Yu, J, Knowles, E, Davies, G, Liewald, DC, Starr, JM, Djurovic, S, Melle, I, Sundet, K, Christoforou, A, Reinvang, I, DeRosse, P, Lundervold, AJ, Steen, VM, Espeseth, T, Räikkönen, K, Widen, E, Palotie, A, Eriksson, JG, Giegling, I, Konte, B, Roussos, P, Giakoumaki, S, Burdick, KE, Payton, A, Ollier, W, Horan, M, Chiba-Falek, O, Attix, DK, Need, AC, Cirulli, ET, Voineskos, AN, Stefanis, NC, Avramopoulos, D, Hatzimanolis, A, Arking, DE, Smyrnis, N, and Bilder, RM et al. "GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium." Molecular psychiatry 22, no. 3 (March 2017): 336-345. Full Text
  - Chiba-Falek, O, and Lutz, MW. "Towards precision medicine in Alzheimer's disease: deciphering genetic data to establish informative biomarkers." Expert review of precision medicine and drug development 2, no. 1 (January 2017): 47-55. Full Text
  - Glenn, O-C, Tagliafierro, L, Beach, TG, Woltjer, RL, and Chiba-Falek, O. "Interpreting Gene Expression Effects of Disease-Associated Variants: A Lesson from SNCA rs356168." Frontiers in genetics 8 (January 2017): 133-. Full Text
  - Saul, R, Lutz, MW, Burns, DK, Roses, AD, and Chiba-Falek, O. "The SSV Evaluation System: A Tool to Prioritize Short Structural Variants for Studies of Possible Regulatory and Causal Variants." Human mutation 37, no. 9 (September 2016): 877-883. Full Text
  - Tagliafierro, L, Bonawitz, K, Glenn, OC, and Chiba-Falek, O. "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). Full Text Link to Item
  - Tagliafierro, L, and Chiba-Falek, O. "Up-regulation of SNCA gene expression: implications to synucleinopathies." Neurogenetics 17, no. 3 (July 2016): 145-157. (Review) Full Text
  - Gottschalk, WK, Mihovilovic, M, Roses, AD, and Chiba-Falek, O. "The Role of Upregulated APOE in Alzheimer's Disease Etiology." Journal of Alzheimer's disease & Parkinsonism 6, no. 1 (March 2016). Full Text
  - Roses, AD, Akkari, PA, Chiba-Falek, O, Lutz, MW, Gottschalk, WK, Saunders, AM, Saul, B, Sundseth, S, and Burns, D. "Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing." Expert opinion on drug metabolism & toxicology 12, no. 2 (January 4, 2016): 135-147. (Review) Full Text
  - Tagliafierro, L, Bonawitz, K, Glenn, OC, and Chiba-Falek, O. "Gene Expression Analysis of Neurons and Astrocytes Isolated by Laser Capture Microdissection from Frozen Human Brain Tissues." Frontiers in molecular neuroscience 9 (January 2016): 72-. Full Text
  - Lutz, MW, Saul, R, Linnertz, C, Glenn, O-C, Roses, AD, and Chiba-Falek, O. "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." Alzheimer's & dementia : the journal of the Alzheimer's Association 11, no. 10 (October 2015): 1133-1143. Full Text
  - Gottschalk, WK, Lutz, MW, He, YT, Saunders, AM, Burns, DK, Roses, AD, and Chiba-Falek, O. "The Broad Impact of TOM40 on Neurodegenerative Diseases in Aging." Journal of Parkinson's disease and Alzheimer's disease 1, no. 1 (November 2014). Full Text
  - Roses, AD, Lutz, MW, Saunders, AM, Goldgaber, D, Saul, R, Sundseth, SS, Akkari, PA, Roses, SM, Gottschalk, WK, Whitfield, KE, Vostrov, AA, Hauser, MA, Allingham, RR, Burns, DK, Chiba-Falek, O, and Welsh-Bohmer, KA. "African-American TOMM40'523-APOE haplotypes are admixture of West African and Caucasian alleles." Alzheimer's & dementia : the journal of the Alzheimer's Association 10, no. 6 (November 2014): 592-601.e2. Full Text
  - Linnertz, C, Anderson, L, Gottschalk, W, Crenshaw, D, Lutz, MW, Allen, J, Saith, S, Mihovilovic, M, Burke, JR, Welsh-Bohmer, KA, Roses, AD, and Chiba-Falek, O. "The cis-regulatory effect of an Alzheimer's disease-associated poly-T locus on expression of TOMM40 and apolipoprotein E genes." Alzheimer's & dementia : the journal of the Alzheimer's Association 10, no. 5 (September 2014): 541-551. Full Text
  - Linnertz, C, Lutz, MW, Ervin, JF, Allen, J, Miller, NR, Welsh-Bohmer, KA, Roses, AD, and Chiba-Falek, O. "The genetic contributions of SNCA and LRRK2 genes to Lewy Body pathology in Alzheimer's disease." Human molecular genetics 23, no. 18 (September 2014): 4814-4821. Full Text
  - Chen, J, Li, W, Zhang, T, Wang, Y-J, Jiang, X-J, and Xu, Z-Q. "Glucocerebrosidase gene mutations associated with Parkinson's disease: a meta-analysis in a Chinese population." PloS one 9, no. 12 (January 2014): e115747-. Full Text
  - Davies, G, Harris, SE, Reynolds, CA, Payton, A, Knight, HM, Liewald, DC, Lopez, LM, Luciano, M, Gow, AJ, Corley, J, Henderson, R, Murray, C, Pattie, A, Fox, HC, Redmond, P, Lutz, MW, Chiba-Falek, O, Linnertz, C, Saith, S, Haggarty, P, McNeill, G, Ke, X, Ollier, W, Horan, M, Roses, AD, Ponting, CP, Porteous, DJ, Tenesa, A, Pickles, A, Starr, JM, Whalley, LJ, Pedersen, NL, Pendleton, N, Visscher, PM, and Deary, IJ. "A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing." Molecular Psychiatry 19, no. 1 (January 1, 2014): 76-87. Full Text
  - Davies, G, Harris, SE, Reynolds, CA, Payton, A, Knight, HM, Liewald, DC, Lopez, LM, Luciano, M, Gow, AJ, Corley, J, Henderson, R, Murray, C, Pattie, A, Fox, HC, Redmond, P, Lutz, MW, Chiba-Falek, O, Linnertz, C, Saith, S, Haggarty, P, McNeill, G, Ke, X, Ollier, W, Horan, M, Roses, AD, Ponting, CP, Porteous, DJ, Tenesa, A, Pickles, A, Starr, JM, Whalley, LJ, Pedersen, NL, Pendleton, N, Visscher, PM, and Deary, IJ. "A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing." Molecular psychiatry 19, no. 1 (January 2014): 76-87. Full Text
  - Browndyke, JN, Giovanello, K, Petrella, J, Hayden, K, Chiba-Falek, O, Tucker, KA, Burke, JR, and Welsh-Bohmer, KA. "Phenotypic regional functional imaging patterns during memory encoding in mild cognitive impairment and Alzheimer's disease." Alzheimers Dement 9, no. 3 (May 2013): 284-294. Full Text Open Access Copy Link to Item
  - Browndyke, JN, Giovanello, K, Petrella, J, Hayden, K, Chiba-Falek, O, Tucker, KA, Burke, JR, and Welsh-Bohmer, KA. "Phenotypic regional functional imaging patterns during memory encoding in mild cognitive impairment and Alzheimer's disease." Alzheimer's and Dementia 9, no. 3 (2013): 284-294. Full Text
  - Smith, PJ, Need, AC, Cirulli, ET, Chiba-Falek, O, and Attix, DK. "A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with "traditional" neuropsychological testing instruments." Journal of clinical and experimental neuropsychology 35, no. 3 (January 2013): 319-328. Full Text
  - Smith, PJ, Need, AC, Cirulli, ET, Chiba-Falek, O, and Attix, DK. "A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with "traditional" neuropsychological testing instruments." Journal of Clinical and Experimental Neuropsychology 35, no. 3 (2013): 319-328. Full Text
  - Chiba-Falek, O, Linnertz, C, Guyton, J, Gardner, SD, Roses, AD, McCarthy, JJ, and Patel, K. "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): 1911-1920. Full Text Link to Item
  - Hayden, KM, McEvoy, JM, Linnertz, C, Attix, D, Kuchibhatla, M, Saunders, AM, Lutz, MW, Welsh-Bohmer, KA, Roses, AD, and Chiba-Falek, O. "A homopolymer polymorphism in the TOMM40 gene contributes to cognitive performance in aging." Alzheimer's & dementia : the journal of the Alzheimer's Association 8, no. 5 (September 2012): 381-388. Full Text
  - McCarthy, JJ, Saith, S, Linnertz, C, Burke, JR, Hulette, CM, Welsh-Bohmer, KA, and Chiba-Falek, O. "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. Full Text Link to Item
  - Linnertz, C, Saunders, AM, Lutz, MW, Crenshaw, DM, Grossman, I, Burns, DK, Whitfield, KE, Hauser, MA, McCarthy, JJ, Ulmer, M, Allingham, R, Welsh-Bohmer, KA, Roses, AD, and Chiba-Falek, O. "Characterization of the poly-T variant in the TOMM40 gene in diverse populations." PloS one 7, no. 2 (January 2012): e30994-. Full Text
  - Cirulli, ET, Attix, DK, Smith, PJ, Chiba-Falek, O, Pennuto, TO, Linney, KN, and Goldstein, DB. "Contribution of pastimes and testing strategies to the performance of healthy volunteers on cognitive tests." Clin Neuropsychol 25, no. 5 (July 2011): 778-798. Full Text Link to Item
  - McCarthy, JJ, Linnertz, C, Saucier, L, Burke, JR, Hulette, CM, Welsh-Bohmer, KA, and Chiba-Falek, O. "The effect of SNCA 3' region on the levels of SNCA-112 splicing variant." Neurogenetics 12, no. 1 (February 2011): 59-64. Full Text Link to Item
  - Chiba-Falek, O, Nichols, M, Suchindran, S, Guyton, J, Ginsburg, GS, Barrett-Connor, E, and McCarthy, JJ. "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. (Published online)" BMC Med Genet 11 (January 19, 2010): 9-. Full Text Open Access Copy Link to Item
  - Chiba Falek, O, Nichols, M, Suchindran, S, Guyton, JR, Ginsburg, GS, Barrett Connor, E, and McCarthy, JJ. "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-. (Academic Article)
  - Heinzen, EL, Need, AC, Hayden, KM, Chiba-Falek, O, Roses, AD, Strittmatter, WJ, Burke, JR, Hulette, CM, Welsh-Bohmer, KA, and Goldstein, DB. "Genome-wide scan of copy number variation in late-onset Alzheimer's disease." J Alzheimers Dis 19, no. 1 (2010): 69-77. Full Text Open Access Copy Link to Item
  - Linnertz, C, Saucier, L, Ge, D, Cronin, KD, Burke, JR, Browndyke, JN, Hulette, CM, Welsh-Bohmer, KA, and Chiba-Falek, O. "Genetic regulation of alpha-synuclein mRNA expression in various human brain tissues. (Published online)" PLoS One 4, no. 10 (October 16, 2009): e7480-. Full Text Link to Item
  - Cronin, KD, Ge, D, Manninger, P, Linnertz, C, Rossoshek, A, Orrison, BM, Bernard, DJ, El-Agnaf, OMA, Schlossmacher, MG, Nussbaum, RL, and Chiba-Falek, O. "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): 3274-3285. Full Text Link to Item
  - Chiba-Falek, O, Lopez, GJ, and Nussbaum, RL. "Reply: Expression of α-synuclein mRNA in Parkinson's disease [3]." Movement Disorders 22, no. 7 (2007): 1057--. Full Text
  - Chiba-Falek, O, Lopez, GJ, and Nussbaum, RL. "Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients." Mov Disord 21, no. 10 (October 2006): 1703-1708. Full Text Link to Item
  - Chiba-Falek, O, Kowalak, JA, Smulson, ME, and Nussbaum, RL. "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): 478-492. Full Text Link to Item
  - Nissim-Rafinia, M, Aviram, M, Randell, SH, Shushi, L, Ozeri, E, Chiba-Falek, O, Eidelman, O, Pollard, HB, Yankaskas, JR, and Kerem, B. "Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation." EMBO Rep 5, no. 11 (November 2004): 1071-1077. Full Text Link to Item
  - Chiba-Falek, O, Touchman, JW, and Nussbaum, RL. "Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene." Hum Genet 113, no. 5 (October 2003): 426-431. Full Text Link to Item
  - Chiba-Falek, O, and Nussbaum, RL. "Regulation of alpha-synuclein expression: implications for Parkinson's disease." Cold Spring Harb Symp Quant Biol 68 (2003): 409-415. (Review) Link to Item
  - Chiba-Falek, O, and Nussbaum, RL. "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): 3101-3109. Link to Item
  - Touchman, JW, Dehejia, A, Chiba-Falek, O, Cabin, DE, Schwartz, JR, Orrison, BM, Polymeropoulos, MH, and Nussbaum, RL. "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. Link to Item
  - Chiba-Falek, O, Orrison, BM, Touchman, JW, Dehejia, A, Polymeropoulos, MH, and Nussbaum, RL. "Analysis of the human alpha-synuclein promoter." AMERICAN JOURNAL OF HUMAN GENETICS 67, no. 4 (October 2000): 194-194. Link to Item
  - Nissim-Rafinia, M, Chiba-Falek, O, and Kerem, B. "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 2000): 38-38. Link to Item
  - Nissim-Rafinia, M, Chiba-Falek, O, Sharon, G, Boss, A, and Kerem, B. "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): 1771-1778. Link to Item
  - Chiba-Falek, O, Kerem, E, Nissim-Raffinia, M, Tai, A, Aviram, M, Augarten, A, and Kerem, B. "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 1999): A288-A288. Link to Item
  - Nissim-Rafinia, M, Chiba-Falek, O, Kerem, E, and Kerem, B. "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 1999): A502-A502. Link to Item
  - Chiba-Falek, O, Parad, RB, Kerem, E, and Kerem, B. "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. Full Text Link to Item
  - Chiba-Falek, O, Kerem, E, Shoshani, T, Aviram, M, Augarten, A, Bentur, L, Tal, A, Tullis, E, Rahat, A, and Kerem, B. "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): 276-283. Full Text Link to Item
  - Chiba-Falek, O, Nissim-Rafinia, M, Argaman, Z, Genem, A, Moran, I, Kerem, E, and Kerem, B. "Screening of CFTR mutations in an isolated population: identification of carriers and patients." Eur J Hum Genet 6, no. 2 (March 1998): 181-184. Full Text Link to Item
  - Kerem, E, Rave-Harel, N, Augarten, A, Madgar, I, Nissim-Rafinia, M, Yahav, Y, Goshen, R, Bentur, L, Rivlin, J, Aviram, M, Genem, A, Chiba-Falek, O, Kraemer, MR, Simon, A, Branski, D, and Kerem, B. "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): 1914-1920. Full Text Link to Item
  - Kerem, B, Chiba-Falek, O, and Kerem, E. "Cystic fibrosis in Jews: frequency and mutation distribution." Genet Test 1, no. 1 (1997): 35-39. (Review) Full Text Link to Item
  - Rave-Harel, N, Madgar, I, Goshen, R, Nissim-Rafinia, M, Ziadni, A, Rahat, A, Chiba, O, Kalman, YM, Brautbar, C, and Levinson, D. "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): 1359-1366. Link to Item
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Education, Training, & Certifications

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Outreach & Engaged Scholarship