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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.


Das DK, Tapias V, D'Aiuto L, Chowdari KV, Francis L, Zhi Y, Ghosh BA, Surti U, Tischfield J, Sheldon M, Moore JC, Fish K, Nimgaonkar V. Genetic and morphological features of human iPSC-derived neurons with chromosome 15q11.2 (BP1-BP2) deletions. Mol Neuropsychiatry. 2015 Jul;1(2):116-123. Epub 2015 Jun 24. PMCID: PMC4627696


Sadler B, Haller G, Edenberg H, Tischfield J, Brooks A, Kramer J, Schuckit M, Nurnberger J, Goate A. Positive Selection on Loci Associated with Drug and Alcohol Dependence. PLoS One. 2015 Aug 13;10(8):e0134393. doi: 10.1371/journal.pone.0134393. eCollection 2015. PMCID: PMC4536217


Huertas-Fernández I, Gómez-Garre P, Madruga-Garrido M, Bernal-Bernal I, Bonilla-Toribio M, Martín-Rodríguez JF, Cáceres-Redondo MT, Vargas-González L, Carrillo F, Pascual A, Tischfield JA, King RA, Heiman GA, Mir P. GDNF gene is associated with tourette syndrome in a family study. Mov Disord. 2015 Jul;30(8):1115-20. doi: 10.1002/mds.26279. Epub 2015 Jun 12. (PMC Journal – In Process)


Jansen R, Penninx BW, Madar V, Xia K, Milaneschi Y, Hottenga JJ, Hammerschlag AR, Beekman A, van der Wee N, Smit JH, Brooks AI, Tischfield J, Posthuma D, Schoevers R, van Grootheest G, Willemsen G, de Geus EJ, Boomsma DI, Wright FA, Zou F, Sun W, Sullivan PF. Gene expression in major depressive disorder. Mol Psychiatry. 2015 May 26. doi: 10.1038/mp.2015.57. [Epub ahead of print] (PMC Journal – In Process)


Salvatore JE, Edwards AC, McClintick JN, Bigdeli TB, Adkins A, Aliev F, Edenberg HJ, Foroud T, Hesselbrock V, Kramer J, Nurnberger JI, Schuckit M, Tischfield JA, Xuei X, Dick DM. Genome-wide association data suggest ABCB1 and immune-related gene sets may be involved in adult antisocial behavior. Transl Psychiatry. 2015 Apr 28;5:e558. doi: 10.1038/tp.2015.36. PMCID: PMC4462601


grawal A, Lynskey MT, Kapoor M, Bucholz KK, Edenberg HJ, Schuckit M, Brooks A, Hesselbrock V, Kramer J, Saccone N, Tischfield J, Bierut LJ. Are genetic variants for tobacco smoking associated with cannabis involvement? Drug Alcohol Depend. 2015 Mar 4. pii: S0376-8716(15)00113-1. doi: 10.1016/j.drugalcdep.2015.02.029. [Epub ahead of print]


de Leeuw C, Goudriaan A, Smit AB, Yu D, Mathews CA, Scharf JM; Tourette Syndrome Association International Consortium for Genetics, Verheijen MH, Posthuma D. (Collaborators: Involvement of astrocyte metabolic coupling in Tourette syndrome pathogenesis. Eur J Hum Genet. 2015 Oct;23(11):1519-22. doi: 10.1038/ejhg.2015.22. Epub 2015 Mar 4. PMCID: PMC4613465


Aliev F, Wetherill L, Bierut L, Bucholz KK, Edenberg H, Foroud T; COGA Investigators (Porjesz B, Hesselbrock V,Edenberg H, Bierut L, Hesselbrock V, Edenberg H, Nurnberger J Jr, Foroud T, Kuperman S, Kramer J, Porjesz B, Bierut L, 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, Rangaswamy M, Rohrbaugh J, Wang J-, Brooks A, Aliev F.), Dick DM.Genes associated with alcohol outcomes show enrichment of effects with broad externalizing and impulsivity phenotypes in an independent sample. J Stud Alcohol Drugs. 2015 Jan;76(1):38-46. PMCID: PMC4263779


Sahota A, Parihar JS, Capaccione KM, Yang M, Noll K, Gordon D, Reimer D, Yang I, Buckley BT, Polunas M, Reuhl KR, Lewis MR, Ward MD, Goldfarb DS, Tischfield JA. Novel Cystine Ester Mimics for the Treatment of Cystinuria-induced Urolithiasis in a Knockout Mouse Model. Urology. 2014 Nov;84(5):1249.e9-1249.e15. doi: 10.1016/j.urology.2014.07.043. Epub 2014 Oct 24.


Xu B, Wang W, Guo H, Sun Z, Wei Z, Zhang X, Liu Z, Tischfield JA, Gong Y, Shao C. Oxidative stress preferentially induces a subtype of micronuclei and mediates the genomic instability caused by p53 dysfunction. Mutat Res Fundam Mol Mech Mutagen. 2014 Dec 1;770:1-8. PMCID: PMC4186711


Olfson E, Edenberg HJ, Nurnberger J Jr, Agrawal A, Bucholz KK, Almasy LA, Chorlian D, Dick DM, Hesselbrock VM, Kramer JR, Kuperman S, Porjesz B, Schuckit MA, Tischfield JA, Wang JC, Wetherill L, Foroud TM, Rice J, Goate A, Bierut LJ. An ADH1B Variant and Peer Drinking in Progression to Adolescent Drinking Milestones: Evidence of a Gene-by-Environment Interaction.   Alcohol Clin Exp Res. 2014 Oct;38(10):2541-9. doi: 10.1111/acer.12524. Epub 2014 Sep 24 PMCID: PMC4256939


Tereshchenko IV, Zhong H, Chekmareva MA, Kane-Goldsmith N, Santanam U, Petrosky W, Stein MN, Ganesan S, Singer EA, Moore D, Tischfield JA, DiPaola RS. ERG and CHD1 heterogeneity in prostate cancer: Use of confocal microscopy in assessment of microscopic foci. Prostate. 2014 Nov;74(15):1551-9. doi: 10.1002/pros.22873. Epub 2014 Aug 29. PMCID: PMC4181586


Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, Illmann C, McGrath LM, Mayerfeld C, Arepalli S, Barlassina C, Barr CL, Bellodi L, Benarroch F, Berrió GB, Bienvenu OJ, Black DW, Bloch MH, Brentani H, Bruun RD, Budman CL, Camarena B, Campbell DD, Cappi C, Silgado JC, Cavallini MC, Chavira DA, Chouinard S, Cook EH, Cookson MR, Coric V, Cullen B, Cusi D, Delorme R, Denys D, Dion Y, Eapen V, Egberts K, Falkai P, Fernandez T, Fournier E, Garrido H, Geller D, Gilbert D, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Hardy J, Heiman GA, Hemmings SM, Herrera LD, Hezel DM, Hoekstra PJ, Jankovic J, Kennedy JL, King RA, Konkashbaev AI, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Lupoli S, Macciardi F, Maier W, Manunta P, Marconi M, McCracken JT, Mesa Restrepo SC, Moessner R, Moorjani P, Morgan J, Muller H, Murphy DL, Naarden AL, Nurmi E, Ochoa WC, Ophoff RA, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner T, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosário MC, Rosenberg D, Ruhrmann S, Sabatti C, Salvi E, Sampaio AS, Samuels J, Sandor P, Service SK, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Turiel M, Valencia Duarte AV, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Weale M, Weiss R, Wendland JR, Westenberg HG, Shugart YY, Hounie AG, Miguel EC, Nicolini H, Wagner M, Ruiz-Linares A, Cath DC, McMahon W, Posthuma D, Oostra BA, Nestadt G, Rouleau GA, Purcell S, Jenike MA, Heutink P, Hanna GL, Conti DV, Arnold PD, Freimer NB, Stewart SE, Knowles JA, Cox NJ, Pauls DL. Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD. Am J Psychiatry. 2015 Jan 1;172(1):82-93. doi: 10.1176/appi.ajp.2014.13101306. Epub 2014 Oct 31. PMCID: PMC4282594


McClintick JN, Brooks AI, Deng L, Liang L, Wang JC, Kapoor M, Xuei X, Foroud T, Tischfield JA, Edenberg HJ. Ethanol treatment of lymphoblastoid cell lines from alcoholics and non-alcoholics causes many subtle changes in gene expression. Alcohol. 2014 2014 Sep;48(6):603-10. doi: 10.1016/j.alcohol.2014.07.004. Epub 2014 Jul 22.


McGrath LM, Yu D, Marshall C, Davis LK, Thiruvahindrapuram B, Li B, Cappi C, Gerber G, Wolf A, Schroeder FA, Osiecki L, O'Dushlaine C, Kirby A, Illmann C, Haddad S, Gallagher P, Fagerness JA, Barr CL, Bellodi L, Benarroch F, Bienvenu OJ, Black DW, Bloch MH, Bruun RD, Budman CL, Camarena B, Cath DC, Cavallini MC, Chouinard S, Coric V, Cullen B, Delorme R, Denys D, Derks EM, Dion Y, Rosário MC, Eapen V, Evans P, Falkai P, Fernandez TV, Garrido H, Geller D, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Heiman GA, Hemmings SM, Herrera LD, Hounie AG, Jankovic J, Kennedy JL, King RA, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Lochner C, Lowe TL, Lyon GJ, Macciardi F, Maier W, McCracken JT, McMahon W, Murphy DL, Naarden AL, Neale BM, Nurmi E, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Reus VI, Richter MA, Riddle M, Robertson MM, Rosenberg D, Rouleau GA, Ruhrmann S, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Tischfield JA, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Wendland JR, Shugart YY, Miguel EC, Nicolini H, Oostra BA, Moessner R, Wagner M, Ruiz-Linares A, Heutink P, Nestadt G, Freimer N, Petryshen T, Posthuma D, Jenike MA, Cox NJ, Hanna GL, Brentani H, Scherer SW, Arnold PD, Stewart SE, Mathews CA, Knowles JA, Cook EH, Pauls DL, Wang K, Scharf JM. Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. J Am Acad Child Adolesc Psychiatry. 2014 Aug;53(8):910-9. doi: 10.1016/j.jaac.2014.04.022. Epub 2014 Jun 24. PMCID: PMC4218748

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Jay Tischfield

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