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Jay Tischfield
Jay Tischfield
Distinguished Professor, Department of Genetics Executive Director, HGINJ
(848) 445-1027
(732) 445-1147
LSB 136
Life Sciences Building Rutgers University 145 Bevier Road Piscataway, NJ , 08854


Our primary research interests include studies of both somatically heritable and transient genetic changes in somatic cells that predispose to disease in humans. In addition, we are engaged in several large projects whose ultimate goal is the identification of genes that have major contributions to complex oligogenic disorders.

Loss of heterozygosity (LOH) for tumor suppressor genes in somatic cells frequently results in a recessive cellular phenotype that leads to cancer. We have studied the frequency and mechanisms of LOH in human heterozygotes and produced a heterozygous mouse model for investigation of LOH in different genetic backgrounds and after exposure to environmental agents. We have discovered that the major mechanisms for LOH in normal cells are mitotic recombination, followed by point mutation. Thus, we are investigating genes (e.g., Tp53, Mlh1, Msh2) and environmental agents that may affect these processes. The mouse is an excellent model for this research due to the availability of many "knockouts" for genes that might affect LOH and our ability to deliver environmental agents, such as chemicals and radiation, in a precise manner.

Our group has also produced a knockout mouse model for APRT deficiency, which produces a human genetic disease (dihydroxyadenine urolithiasis) characterized by severe kidney stones and, in rare cases, chronic renal failure. We are comparing gene expression in mice with and without kidney stones in order to identify genes that are involved in early and late pathological changes. Thus far, the expression of several known and novel genes has been shown to increase or decrease with stone disease. We are investigating the expression of these genes in specific kidney cell types and correlating it with pathologic changes. Such studies may produce new targets for early pharmacologic intervention in the progression of kidney stone disease.

We are collaborating in several large, multidisciplinary projects whose goal is the identification and characterization of genes that make major contributions to complex human diseases such as alcoholism, opiate addiction, autism, schizophrenia and bipolar disorder. We are collecting blood and producing cell lines and DNA from large numbers of individuals in families with a high incidence of a specific disorder in an effort to find such genes.


View Dr. Tischfield's Publications on NCBI

Selected 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. [Epub ahead of print] (PMC Journal – In Process)

• 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. [Epub ahead of print] (PMC Journal – In Process)

• 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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