• Jay Tischfield
  • Jay Tischfield
  • Position: Distinguished Professor, Department of Genetics Executive Director, HGINJ
  • Research Focus: Medical and human genetics: the genetics of somatic cells, mouse models for human diseases and genes for complex human genetic disorders
  • Click for Lab Website
  • Subset Area: Model Organisms | Rodent, Genetics of Human Disease | Cancer, Genetics of Human Disease | CNS, Genetics of Human Disease | Kidney/Urinary/Digestive, Genetic Mechanisms | DNA Instability/Repair
  • Phone: (848) 445-1027
  • Address: Life Sciences Building Rutgers University 145 Bevier Road Piscataway, NJ , 08854
  • Office: LSB 136
  • Fax: (732) 445-1147
  • Research:

    Broadly, our research centers around human heredity and the somatic cell biology of mutations that produce disease. Our interests encompass psychiatric genetics, addiction biology and mechanisms of gene regulation and include the production of induced pluripotent stem cell (iPSC) and engineered mouse genetic models for disease as key tools to understand biological mechanisms.

    One research focus is Tourette disorder (TD), a neuropsychiatric condition that is characterized by verbal and motor tics and which is observed in about 1 in 150 children. We have analyzed inherited, disease-producing genetic variants of specific genes in large TD families using neurons derived from iPSCs and molecular genetics tools. In contrast, our “TIC Genetics” collaborative group has discovered and is now characterizing new gene mutations that have arisen in the TD children of unaffected parents. We aim to understand how these gene variants function on a cellular level by comparing iPSC-derived neurons from affected and unaffected individuals. At the same time, we hope to model TD behavior, neuroanatomy and neurophysiology with mice engineered to have mutations identical to those that we have discovered in TD humans.

    Other research foci include collaborative research on the genetics and functional mechanisms of alcohol abuse and cellular opioid responses. We also continue with loss of heterozygosity (LOH) experiments to determine what features along the mitotic chromosome promote recombination that results in LOH. Additional lab projects include development of drugs to treat cystinuria, a disease characterized by painful, recurrent cystine kidney stones, using an engineered mouse model for cystinuria.

  • Publications: View Dr. Tischfield's Publications on NCBISelected Peer-Reviewed Publications (Selected from more than 280)• Agrawal A, Chou YL, Carey CE, Baranger DAA, Zhang B, Sherva R, Wetherill L, Kapoor M, Wang JC, Bertelsen S, Anokhin AP, Hesselbrock V, Kramer J, Lynskey MT, Meyers JL, Nurnberger JI, Rice JP, Tischfield J, Bierut LJ, Degenhardt L, Farrer LA, Gelernter J, Hariri AR, Heath AC, Kranzler HR, Madden PAF, Martin NG, Montgomery GW, Porjesz B, Wang T, Whitfield JB, Edenberg HJ, Foroud T, Goate AM, Bogdan R, Nelson EC. Genome-wide association study identifies a novel locus for cannabis dependence. Mol Psychiatry. 2017 Nov 7. doi: 10.1038/mp.2017.200. a href="/PMC Journal – In Process">"pub ahead of print• Mathies LD, Aliev F; COGA Investigators, Davies AG, Dick DM, Bettinger JC. (Collaborators: Porjesz B, Bierut L, Rice J, Bucholz K, Agrawal A, Schuckit M, Tischfield J, Brooks A, Almasy L, Goate A, Taylor R, Bauer L, McClintick J, Wetherill L, Xuei X, Liu Y, Lai D, O'Connor S, Plawecki M, Lourens S, Chan G, Meyers J, Chorlian D, Kamarajan C, Pandey A, Zhang J, Wang JC, Kapoor M, Bertelsen S, Anokhin A, McCutcheon V, Saccone S, Salvatore J, Cho B, Kos M, Parsian A, Reilly M.) Variation in SWI/SNF Chromatin Remodeling Complex Proteins is Associated with Alcohol Dependence and Antisocial Behavior in Human Populations. Alcohol Clin Exp Res. 2017 Dec;41(12):2033-2040. doi: 10.1111/acer.13514. Epub 2017 Oct 27. PMCID: PMC5711565• Sun N, Nasello C, Deng L, Wang N, Zhang Y, Xu Z, Song Z, Kwan K, King RA, Pang ZP, Xing J, Heiman GA, Tischfield JA. The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family. Mol Psychiatry. 2017 Sep 12. doi: 10.1038/mp.2017.179. [Epub ahead of print] PMCID: PMC5847395• Kuperman S, Chan G, Kramer J, Wetherill L, Acion L, Edenberg HJ, Foroud TM, Nurnberger J Jr, Agrawal A, Anokhin A, Brooks A, Hesselbrock V, Hesselbrock M, Schuckit M, Tischfield J, Liu X. A GABRA2 polymorphism improves a model for prediction of drinking initiation. Alcohol. 2017 Sep;63:1-8. doi: 10.1016/j.alcohol.2017.03.003. Epub 2017 Jun 28. PMCID: PMC5657392• Andersen AM, Pietrzak RH, Kranzler HR, Ma L, Zhou H, Liu X, Kramer J, Kuperman S, Edenberg HJ, Nurnberger JI Jr, Rice JP, Tischfield JA, Goate A, Foroud TM, Meyers JL, Porjesz B, Dick DM, Hesselbrock V, Boerwinkle E, Southwick SM, Krystal JH, Weissman MM, Levinson DF, Potash JB, Gelernter J, Han S. Polygenic Scores for Major Depressive Disorder and Risk of Alcohol Dependence. JAMA Psychiatry. 2017 Nov 1;74(11):1153-1160. doi: 10.1001/jamapsychiatry.2017.2269. PMCID: PMC5710224• Abdulkadir M, Londono D, Gordon D, Fernandez TV, Brown LW, Cheon KA, Coffey BJ, Elzerman L, Fremer C, Fründt O, Garcia-Delgar B, Gilbert DL, Grice DE, Hedderly T, Heyman I, Hong HJ, Huyser C, Ibanez-Gomez L, Jakubovski E, Kim YK, Kim YS, Koh YJ, Kook S, Kuperman S, Leventhal B, Ludolph AG, Madruga-Garrido M, Maras A, Mir P, Morer A, Müller-Vahl K, Münchau A, Murphy TL, Plessen KJ, Roessner V, Shin EY, Song DH, Song J, Tübing J, van den Ban E, Visscher F, Wanderer S, Woods M, Zinner SH, King RA, Tischfield JA, Heiman GA, Hoekstra PJ, Dietrich A. Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach. Eur Arch Psychiatry Clin Neurosci. 2017 May 29. doi: 10.1007/s00406-017-0808-8. [Epub ahead of print] PMCID: PMC5708161• Willsey AJ, Fernandez TV, Yu D, King RA, Dietrich A, Xing J, Sanders SJ, Mandell JD, Huang AY, Richer P, Smith L, Dong S, Samocha KE; Tourette International Collaborative Genetics (TIC Genetics); Tourette Syndrome Association International Consortium for Genetics (TSAICG), Neale BM, Coppola G, Mathews CA, Tischfield JA, Scharf JM, State MW, Heiman GA. De Novo Coding Variants Are Strongly Associated with Tourette Disorder. Neuron. 2017 May 3;94(3):486-499.e9. doi: 10.1016/j.neuron.2017.04.024. PMCID: PMC5769876• Adkins AE, Hack LM, Bigdeli TB, Williamson VS, McMichael GO, Mamdani M, Edwards AC, Aliev F, Chan RF, Bhandari P, Raabe RC, Alaimo JT, Blackwell GG, Moscati A, Poland RS, Rood B, Patterson DG, Walsh D; Collaborative Study of the Genetics of Alcoholism Consortium., Whitfield JB, Zhu G, Montgomery GW, Henders AK, Martin NG, Heath AC, Madden PA, Frank J, Ridinger M, Wodarz N, Soyka M, Zill P, Ising M, Nöthen MM, Kiefer F, Rietschel M; German Study of the Genetics of Addiction Consortium., Gelernter J, Sherva R, Koesterer R, Almasy L, Zhao H, Kranzler HR, Farrer LA, Maher BS, Prescott CA, Dick DM, Bacanu SA, Mathies LD, Davies AG, Vladimirov VI, Grotewiel M, Bowers MS, Bettinger JC, Webb BT, Miles MF, Kendler KS, Riley BP. Collaborators (42) Hesselbrock V, Bauer L, Chan G, Edenberg HJ, Xuei X, Nurnberger J Jr, O'Connor S, Foroud T, Koller DL, Wetherill L, Kuperman S, Kramer J, Porjesz B, Kang SJ, Manz N, Rangaswamy M, Bierut L, Rice J, Bucholz K, Rohrbaugh JW, Wang JC, Goate A, Schuckit M, Tischfield J, Brooks A, Taylor RE, Cichon S, Treutlein J, Mattheisen M, Hoffmann P, Herms S, Maier W, Mössner R, Degenhardt F, Gaebel W, Dahmen N, Scherbaum N, Schmäl C, Steffens M, Lucae S, Müller-Myhsok B, Mann K. Genomewide Association Study of Alcohol Dependence Identifies Risk Loci Altering Ethanol-Response Behaviors in Model Organisms. Alcohol Clin Exp Res. 2017 May;41(5):911-928. doi: 10.1111/acer.13362. Epub 2017 Mar 30. PMCID: PMC5404949• Zee T, Bose N, Zee J, Beck JN, Yang S, Parihar J, Yang M, Damodar S, Hall D, O'Leary MN, Ramanathan A, Gerona RR, Killilea DW, Chi T, Tischfield J, Sahota A, Kahn A, Stoller ML, Kapahi P. ?-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria. Nat Med. 2017 Mar;23(3):288-290. doi: 10.1038/nm.4280. Epub 2017 Feb 6. PMCID: PMC5656064• Meyers JL, Zhang J, Manz N, Rangaswamy M, Kamarajan C, Wetherill L, Chorlian DB, Kang SJ, Bauer L, Hesselbrock V, Kramer J, Kuperman S, Nurnberger JI Jr, Tischfield J, Wang JC, Edenberg HJ, Goate A, Foroud T, Porjesz B. A Genome Wide Association Study of Fast Beta EEG in Families of European Ancestry. Int J Psychophysiol. 2017 May;115:74-85. doi: 10.1016/j.ijpsycho.2016.12.008. Epub 2016 Dec 28. PMCID: PMC5426060• Olfson E, Bloom J, Bertelsen S, Budde JP, Breslau N, Brooks A, Culverhouse R, Chan G, Chen LS, Chorlian D, Dick DM, Edenberg HJ, Hartz S, Hatsukami D, Hesselbrock VM, Johnson EO, Kramer JR, Kuperman S, Meyers JL, Nurnberger J, Porjesz B, Saccone NL, Schuckit MA, Stitzel J, Tischfield JA, Rice JP, Goate A, Bierut LJ. CYP2A6 metabolism in the development of smoking behaviors in young adults. Addict Biol. 2016 Dec 29. doi: 10.1111/adb.12477. [Epub ahead of print] PMCID: PMC5491369• Kamarajan C, Pandey AK, Chorlian DB, Manz N, Stimus AT, Edenberg HJ, Wetherill L, Schuckit M, Wang JC, Kuperman S, Kramer J, Tischfield JA, Porjesz B. A KCNJ6 gene polymorphism modulates theta oscillations during reward processing. Int J Psychophysiol. 2017 May;115:13-23. doi: 10.1016/j.ijpsycho.2016.12.007. Epub 2016 Dec 16. PMCID: PMC5392377• Li JJ, Cho SB, Salvatore JE, Edenberg HJ, Agrawal A, Chorlian DB, Porjesz B, Hesselbrock V; COGA Investigators (Edenberg H, Bierut L, Nurnberger J Jr, Foroud T, Kuperman S, Kramer J, Goate A, Rice J, Bucholz K, Schuckit M, Tischfield J, Almasy L, Taylor R, Dick D, Bauer L, Koller D, O'Connor S, Wetherill L, Xuei X, Chan G, Kang S, Manz N, Wang JC, Brooks A, Aliev F, Parsian A, Reilly M.), Dick DM. The Impact of Peer Substance Use and Polygenic Risk on Trajectories of Heavy Episodic Drinking Across Adolescence and Emerging Adulthood. Alcohol Clin Exp Res. 2017 Jan;41(1):65-75. doi: 10.1111/acer.13282. PMCID: PMC5205549• Alexander J, Potamianou H, Xing J, Deng L, Karagiannidis I, Tsetsos F, Drineas P, Tarnok Z, Rizzo R, Wolanczyk T, Farkas L, Nagy P, Szymanska U, Androutsos C, Tsironi V, Koumoula A, Barta C; TSGeneSEE., Sandor P, Barr CL, Tischfield J, Paschou P, Heiman GA, Georgitsi M. Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology. Front Neurosci. 2016 Sep 21;10:428. eCollection 2016. PMCID: PMC5030307• Oni EN, Halikere A, Li G, Toro-Ramos AJ, Swerdel MR, Verpeut JL, Moore JC, Bello NT, Bierut LJ, Goate A, Tischfield JA, Pang ZP, Hart RP. Increased nicotine response in iPSC-derived human neurons carrying the CHRNA5 N398 allele. Sci Rep. 2016 Oct 4;6:34341. doi: 10.1038/srep34341. PMCID: PMC5048107• Abdulkadir M, Tischfield JA, King RA, Fernandez TV, Brown LW, Cheon KA, Coffey BJ, de Bruijn SF, Elzerman L, Garcia-Delgar B, Gilbert DL, Grice DE, Hagstrøm J, Hedderly T, Heyman I, Hong HJ, Huyser C, Ibanez-Gomez L, Kim YK, Kim YS, Koh YJ, Kook S, Kuperman S, Lamerz A, Leventhal B, Ludolph AG, Madruga-Garrido M, Maras A, Messchendorp MD, Mir P, Morer A, Münchau A, Murphy TL, Openneer TJ, Plessen KJ, Rath JJ, Roessner V, Fründt O, Shin EY, Sival DA, Song DH, Song J, Stolte AM, Tübing J, van den Ban E, Visscher F, Wanderer S, Woods M, Zinner SH, State MW, Heiman GA, Hoekstra PJ, Dietrich A. Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder. J Psychiatr Res. 2016 Nov;82:126-35. doi: 10.1016/j.jpsychires.2016.07.017. Epub 2016 Jul 22. PMCID: PMC5026935.• Hu L, Yang Y, Aloysius H, Albanyan H, Yang M, Liang JJ, Yu A, Shtukenberg A, Poloni LN, Kholodovych V, Tischfield JA, Goldfarb DS, Ward MD, Sahota A. l-Cystine Diamides as l-Cystine Crystallization Inhibitors for Cystinuria. J Med Chem. 2016 Jul 26. a href="/PMC Journal – In Process">"pub ahead of print• Vazquez BN, Thackray JK, Simonet NG, Kane-Goldsmith N, Martinez-Redondo P, Nguyen T, Bunting S, Vaquero A, Tischfield JA, Serrano L. SIRT7 promotes genome integrity and modulates non-homologous end joining DNA repair. EMBO J. 2016 Jul 15;35(14):1488-503. doi: 10.15252/embj.201593499. Epub 2016 May 24. PMCID: PMC4884211• De Filippis L, Halikere A, McGowan H, Moore JC, Tischfield JA, Hart RP, Pang ZP. Ethanol-mediated activation of the NLRP3 inflammasome in iPS cells and iPS cells-derived neural progenitor cells. Mol Brain. 2016 May 10;9(1):51. doi: 10.1186/s13041-016-0221-7. PMCID: PMC4862119• Kapoor M, Chou YL, Edenberg HJ, Foroud T, Martin NG, Madden PA, Wang JC, Bertelsen S, Wetherill L, Brooks A, Chan G, Hesselbrock V, Kuperman S, Medland SE, Montgomery G, Tischfield J, Whitfield JB, Bierut LJ, Heath AC, Bucholz KK, Goate AM, Agrawal A. Genome-wide polygenic scores for age at onset of alcohol dependence and association with alcohol-related measures. Transl Psychiatry. 2016 Mar 22;6:e761. doi: 10.1038/tp.2016.27. PMCID: PMC4872451• Sun N, Tischfield JA, King RA, Heiman GA. Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder. Front Psychiatry. 2016 Feb 9;7:11. doi:10.3389/fpsyt. 2016.00011. eCollection 2016. Review. PMCID: PMC4746269
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