Dr. Norma Nowak

Norma Nowak




Roswell Park Comprehensive Cancer Center
  • Associate Professor of Oncology
  • Department of Cancer Genetics
State University of New York at Buffalo
  • Professor of Biochemistry
Empire Genomics
  • Founder, Chief Scientific Officer


Research Overview:

A Resource of Arrayed BAC Clones for FISH Mapping the Human Genome Cancer is a heterogeneous disorder, encompassing more than 100 diseases, thought to progress as a result of cumulative genetic alterations at numerous loci controlling growth and proliferation. Our knowledge of the mechanisms for the initiation and progression of cancer has increased dramatically during the past decade. Yet cancer remains a formidable health challenge with one of every four deaths in the United States attributable to cancer.

To assist in the effort to discover the genetic alterations that result in cancer, we are generating a genome-wide resource of mapped BAC clones from the RPCI-11 human BAC library, for their application as tools for FISH (Fluorescence In Situ Hybridization) analysis of chromosomal rearrangements in human cancer. Each clone in the resource will have been assigned a sequence tag and mapped relative to cytogenetic bands. The short-term goal is to provide cytogeneticists with an evenly spaced set of clones with which to analyze tumor rearrangements. This set can be used as probes for FISH analyses of tumor chromosomes and as immobilized DNA targets for high-resolution CGH (Comparative Genomic Hybridization) analysis of tumor DNA versus normal DNA. The information from these analyses will define the genetic signature for each tumor type and stage analyzed. The sequence tags of these clones will afford investigators direct access to detailed genomic information, including the (predicted) sequences of candidate genes.

The working draft of sequence for the human genome has been completed. Yet we are still facing the biggest challenge in determining the function of the vast majority of genes that will be uncovered. Described below are projects for global comparative genomic and differential gene expression analyses.


Baker SS, Baker RD, Liu W, Nowak NJ, Zhu L. Role of alcohol metabolism in non-alcoholic steatohepatitis. PloS one 2010; 5(3):A82-A92

Kumar RA, Christian SL, Cook EH, Nowak NJ, Yen M, Oswald D, Brune CW, Babatz TD, Sudi J, Dobyns WB. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. Journal of medical genetics 2010; 47(2):81-90

Nowak NJ, Wang ES, Wallace PK, Ford L, Liu S, Gaile D, Deeb G, Zeidan A, Sait SNJ, Wetzler M. Recurrent deletion of 9q34 in adult normal karyotype precursor B-cell acute lymphoblastic leukemia. Cancer genetics and cytogenetics 2010; 199(1):15-20

Pavone P, Pavone L, Christian SL, Nowak NJ, Incorpora G, Rossi A, Castellano-Chiodo D, Biancheri R, Sudi J, Lombardo I, Ruggieri M, Dobyns WB. Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. European journal of pediatrics 2010; 169(4):475-481

Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH. Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay. Journal of medical genetics2010; 47(4):223-229

Khoury T, Nowak N, Conroy J, Morrison C, Cheney R, Mojica W, Ademuyiwa F, Wang D, Kanehira K, Liu S. Breast carcinoma with amplified HER2: a gene expression signature specific for trastuzumab resistance and poor prognosis.Modern pathology 2010; 23(10):1364-1378

Morrison C, Nowak NJ, Block AW, McMeekin DS, Cohn D, Shepherd L, Liu S, Erwin DO, Kandel E, Dolce JM, Darcy KM, Miecznikowski J, Maxwell L. A GOG 210 aCGH study of gain at 1q23 in endometrioid endometrial cancer in the context of racial disparity and outcome. Genes, chromosomes and cancer2010; 49(9):791-802

, Nowak NJ, Wetzler M, Ford LA, Starostik P, Mashtare T, Gold D, Sait SNJ, Wang ES, Deeb G. Genomic, immunophenotypic, and NPM1/FLT3 mutational studies on 17 patients with normal karyotype acute myeloid leukemia (AML) followed by aberrant karyotype AML at relapse. Cancer genetics and cytogenetics 2010; 202(2):101-107

Yu T, Spring S, Henkelman RM, Stoica G, Matsui S-I, Nowak NJ, Roder JC, Chen C, Bradley A, Bechard AR, Carattini-Rivera S, Fan N, Li Z, Jia Z, Clapcote SJ, Liu C, Li S, Asrar S, Pao A, Chen R, Yu YE. A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions.Human molecular genetics 2010; 19(14):2780-2791

Khoury T, Kanehira K, Wang D, Ademuyiwa FO, Mojica W, Conroy J, Nowak N, Liu S. Breast carcinoma with amplified HER2: A gene expression signature specific for trastuzumab resistance and poor prognosis. Journal of clinical oncology 2010; 28(15 Suppl.):657

Bruce HA, Delisi LE, Ross CA, Sklar P, Holmes SE, Nowak NJ, Gaile DP, Rossi M, McQuaid DE, Conroy J, Cowell JK, Willour VL, GLin S, Rudnicki DD, Sachs N, Margolis RL. Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations. Psychiatric genetics 2009; 19(2):64-71

Darbary HK, Dutt SS, Sait SJ, Nowak NJ, Heinaman RE, Stoler DL, Anderson GR. Uniparentalism in sporadic colorectal cancer is independent of imprint status, and coordinate for chromosomes 14 and 18. Cancer genetics and cytogenetics 2009; 189(2):77-86

De Gaetano M, Donati MB, Trevisan M, Dorn J, Novak N, Giannuzzi P, Gattone M, Grond-Ginsbach C, Lichy C, Padovani A, Del Zotto E, Di Castelnuovo A, Latella MC, Pezzini A, Quacquaruccio G, Iacoviello L. Tissue factor gene polymorphisms and haplotypes and the risk of ischemic vascular events: four studies and a meta-analysis. Journal of thrombosis and haemostasis : JTH 2009; 7(9):1465-1471

Hester SD, Reid L, Nowak N, Jones WD, Parker JS, Knudtson K, Ward W, Tiesman J, Denslow ND. Comparison of comparative genomic hybridization technologies across microarray platforms. Journal of biomolecular techniques : JBT 2009; 20(2):135-151

Horst B, Parsons R, Rimm DL, Owens D, Brunner G, Nowak NJ, Liebau J, Schwipper V, Uzoma I, Chernoff KA, Yang Y, Bordone L, Hopkins BD, Gruvberger-Saal SK, Celebi JT. Gab2-mediated signaling promotes melanoma metastasis. American journal of pathology 2009; 174(4):1524-1533

Nemajerova A, Palacios G, Nowak NJ, Matsui S-I, Petrenko O. Targeted deletion of p73 in mice reveals its role in T cell development and lymphomagenesis. PloS one 2009; 4(11):e7784

Desouki MM, Liao S, Conroy J, Nowak NJ, Shepherd L, Gaile DP, Geradts J.The genomic relationship between primary breast carcinomas and their nodal metastases. Cancer investigation 2011; 29(4):300-307

Desouki MM, Liao S, Huang H, Conroy J, Nowak NJ, Shepherd L, Gaile DP, Geradts J. Identification of metastasis-associated breast cancer genes using a high-resolution whole genome profiling approach. Journal of cancer research and clinical oncology 2011; 137(5):795-809

Miecznikowski JC, Gaile DP, Liu S, Shepherd L, Nowak N. A new normalizing algorithm for BAC CGH arrays with quality control metrics. Journal of biomedicine and biotechnology 2011; 2011:860732

Slovak ML, Bedell V, Hsu YH, Estrine DB, Nowak NJ, Delioukina ML, Weiss LM, Smith DD, Forman SJ. Molecular Karyotypes of Hodgkin and Reed-Sternberg Cells at Disease Onset Reveal Distinct Copy Number Alterations in Chemosensitive versus Refractory Hodgkin Lymphoma. Clinical cancer research 2011; 17(10):3443-3454

Christian SL, Dobyns WB, Nowak NJ, Gershon ES, Gilliam TC, Hatchwell E, Gergel J, McQuaid D, Conroy J, Matsui S, Badner JA, Karamohamed S, Liu S, Kumar RA, Sudi J, Brune CW, Cook EH Jr. Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biological psychiatry 2008; 63(12):1111-1117

Kumar RA, Dobyns WB, Cook EH Jr, Nowak NJ, Gilliam TC, Badner JA, Brune C, Conrad DF, Sudi J, KaraMohamed S, Christian SL. Recurrent 16p11.2 microdeletions in autism. Human molecular genetics 2008; 17(4):628-638

Mhawech-Fauceglia P, Odunsi K, Dim D, Nowak N, Lele S, Cheney RT, Pejovic T. Array-comparative genomic hybridization analysis of primary endometrial and ovarian high-grade neuroendocrine carcinoma associated with adenocarcinoma: mystery resolved? . International journal of gynecological pathology 2008; 27(4):539-546

Mhawech-Fauceglia P, Rai H, Nowak N, Cheney RT, Rodabaugh K, Lele S, Odunsi K. The use of array-based comparative genomic hybridization (a-CGH) to distinguish metastatic from primary synchronous carcinomas of the ovary and the uterus. Histopathology 2008; 53(4):490-495

Mojica WD, Sykes DE, Conroy J, Gaile D, Fang X, Nowak N. A comparative analysis of two tissue procurement approaches for the genomic profiling of clinical colorectal cancer samples. International journal of colorectal disease2008; 23(11):1089-1098

Nowak N. Single cells. Scientist (Philadelphia, Pa.) 2008; 22(4):84-84

Xiang B, Li A, Valentin D, Nowak NJ, Zhao H, Li P. Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. American journal of medical genetics. Part A 2008; 146A(15):1942-1954

Auer H, Gastier-Foster JM, Wenger GD, Yang Y, Yu CY, Singh S, McHugh KM,Nowak NJ, Newsom DL, Kornacker K. Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays. BMC genomics2007; 8:111

Bartos JD, Stoler DL, Mittelman A, Petrelli NJ, Block A, Nowak NJ, Darbary H, Conroy JM, McQuaid DE, Gaile DP, Anderson GR. aCGH local copy number aberrations associated with overall copy number genomic instability in colorectal cancer: coordinate involvement of the regions including BCR and ABL. Mutation research. Fundamental and molecular mechanisms of mutagenesis 2007; 615(1-2):1-11

Chung I, Karpf AR, Muindi JR, Conroy JM, Nowak NJ, Johnson CS, Trump DL.Epigenetic silencing of CYP24 in tumor-derived endothelial cells contributes to selective growth inhibition by calcitriol. Journal of biological chemistry 2007;282(12):8704-8714

Gaile DP, Hutson A, Java J, Conroy JM, McQuaid D, Rossi M, J Nowak N.Errors in centering of array data can induce biases in correlation estimates.Journal of statistical planning and inference 2007; 137(11):3446-3461

Gaile DP, Schifano ED, Miecznikowski JC, Java JJ, Conroy JM, Nowak NJ.Estimating the arm-wise false discovery rate in array comparative genomic hybridization experiments. Statistical applications in genetics and molecular biology 2007; 6(1):Article #32

Girirajan S, Mendoza-Londono R, Vlangos CN, Dupuis L, Nowak NJ, Bunyan DJ, Hatchwell E, Elsea SH. Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1). American journal of medical genetics. Part A 2007; 143A(9):999-1008

Girirajan S, Williams SR, Garbern JY, Nowak N, Hatchwell E, Elsea SH.17p11.2p12 Triplication and Del(17)q11.2q12 in a Severely Affected Child with Dup(17)p11.2p12 Syndrome. Clinical genetics 2007; 72(1):47-58

Li Z, Shiraishi I, Matsui S, Nowak N, Conroy J, LaDuca J, Pao A, Morishima M, Yu T, Yu YE. Duplication of the entire 22.9 Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalities. Human molecular genetics 2007; 16(11):1359-1366

Nowak NJ, Hicks D, Weiss LM, Sullivan M, Rigual N, Loree T, Stoler D, Reid M, Mhawech-Fauceglia P, Forman SJ, Kernstine K, Smith DD, Bobadilla D, Gaile D, Moore SR, Miecznikowski J, Slovak ML. Challenges in array comparative genomic hybridization for the analysis of cancer samples. Genetics in medicine2007; 9(9):585-595

Ronan A, Fagan K, Christie L, Conroy J, Nowak NJ, Turner G. Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.Journal of medical genetics 2007; 44(7):448-451

Sait SN, Claydon MA, Conroy JM, Nowak NJ, Barcos M, Baer MR.Translocation (4;11)(p12;q23) with rearrangement of FRYL and MLL in therapy-related acute myeloid leukemia. Cancer genetics and cytogenetics2007; 177(2):143-146

Stoler DL, Sait SN, Hicks WL Jr, Rigual NR, Loree TR, Bartos JD, Dutt SS, Chen N, Wiseman SM, Matsui S, Nowak NJ, Anderson GR. Comparative genomic instabilities of thyroid and colon cancers. Archives of otolaryngology--head and neck surgery 2007; 133(5):457-463

Yi Y, Nowak NJ, Pacchia AL, Morrison C. Chromosome 11 genomic changes in parathyroid adenoma and hyperplasia: array CGH, FISH, and tissue microarrays. Genes, chromosomes and cancer 2008; 47(8):639-648

Liu W, Baker SS, Baker RD, Nowak NJ, Zhu L. Upregulation of hemoglobin expression by oxidative stress in hepatocytes and its implication in nonalcoholic steatohepatitis. PloS one 2011; 6(9):e24363

Zhu L, Baker SS, Liu W, Tao M-H, Patel R, Nowak NJ, Baker RD. Lipid in the livers of adolescents with nonalcoholic steatohepatitis: combined effects of pathways on steatosis. Metabolism 2011; 60(7):1001-1011

Ambrosone CB, Choi JY, Barlow W, Yeh IT, Hayes DF, Davis W, Rae JM,Nowak N, Conroy J, Li Y, Den Haese J, Lehman T, Hutchins LF, Livingston R, Ravdin P, Albain K. Pharmacogenetics and breast cancer treatment outcomes: Results on oxidative stress related genotypes (MPO, MnSOD) from a Southwest Oncology Group trial (S8897). International journal of biological markers 2007; 22(1):61-62

Chung I, Karpf AR, Nowak NJ, Kong R-X, Trump DL, Johnson CS. Tumor-conditioned media induces CYP24 epigenetic silencing and sensitivity to calcitriol in matrigel-derived endothelial cells (MDEC). Proceedings of the American Association for Cancer Research Annual Meeting 2007; 48:135

Cook JR, Gaile D, Nowak N, Conroy J, Swerdlow SH, Tubbs R. Array-based comparative genomic hybridization of ocular adnexa MALT lymphoma.Laboratory investigation 2007; 87(Suppl. 1):1089

Desouki M, Gaile D, Shepherd L, McQuaid D, Nowak N, Conroy J, Liao S, Geradts J. DNA copy number changes associated with progression from in situ to invasive ductal carcinoma of the breast. Proceedings of the American Association for Cancer Research Annual Meeting 2008; 49:394-395

Desouki MM, Gaile DP, Conroy J, McQuaid D, Nowak NJ, Shepherd L, Liao S, Geradts J. The genomic relationship between breast carcinomas and their paired lymph node metastases. Breast cancer research and treatment 2007;106(Suppl. 1):S160-S161

Geradts J, Gaile DP, Huang H, Liao S, Groth J, McQuaid D, Nowak N, Conroy J, Desouki M. DNA copy number changes associated with nodal metastasis in human breast carcinomas detected by high density array comparative genomic hybridization. Laboratory investigation 2007; 87(Suppl. 1):127

Hatchwell E, Tegay DH, Wang C, O'Brien JE, Allen W, Tan T, Prucka S, Pettenati MJ, Montagna C, Nowak NJ, Toriello HV. Genetic dissection using a novel whole genome tiling path BAC array reveals dramatic heterogeneity in Toriello-Carey syndrome, including a novel microdeletion syndrome at 22q12.Cellular oncology 2007; 29(2):143

Iacoviello L, Tayo B, Di Castelnuovo A, Liang Y, Dorn J, Nowak N, Trevisan M.Interleukin genes, tag-SNP haplotypes, and risk of myocardial infarction: A population-based case-control study. Circulation 2007; 115(8):E297

Khushalani NI, Miecznikowski J, Wang D, Nowak N, Nava H, Nava ME, Tan W, Iyer R, Yang G, Pendyala L. Capecitabine (C), oxaliplatin (OXP), and radiation (RT) in resectable esophagus cancer (EC): A phase II trial with gene expression profiling (GEP). Journal of clinical oncology 2009; 27(15 Suppl.):Abstract #e15543

Moore SR, Smith DD, Nowak NJ, Forman SJ, Weiss LM, Slovak ML. Detection of copy number variation using array comparative genomic hybridization from very low numbers of Hodgkin's Reed-Stemberg cells isolated by laser capture microdissection. Journal of molecular diagnostics : JMD 2007; 9(5):662

Morrison C, Gaile D, Darcy K, Liu S, Shepherd L, Cohn D, McMeekin S, Nowak N, Maxwell L. A Gynecologic Oncology Group study of frequent copy number aberrations in African American versus Caucasian women with stage I versus stage IIIC/IV endometrioid endometrial cancer. Journal of clinical oncology2009; 27(15 Suppl.):Abstract #e16501

Munne S, Steuerwald NM, Wells D, Bethea S, Nowak NJ, Cohen J.Comprehensive aneuploidy screening in single cells using microarray comparative genomic hybridization methods implications for preimplantation genetic diagnosis. Fertility and sterility 2007; 88(Suppl. 1):S86-S87

Pejovic T, Gaile DP, Darcy KM, Liu S, Shepherd L, Rodgers WH, Kohn E, Mannel R, Birrer MJ, Nowak N. A Gynecologic Oncology Group study of frequent copy number aberrations in DNA repair genes and other genomic regions in stage I serous ovarian cancers. Journal of clinical oncology 2009;27(15 Suppl.):Abstract #e16504

Slovak ML, Bedell V, Bobadilla D, Nowak NJ, Delioukina ML, Weiss LM, Smith D, Forman SJ. Genomic Alterations in Hodgkin's and Reed/Sternberg (HRS) Cells at Disease Onset Reveals Distinct Signatures for Chemosensitive and Primary Refractory Hodgkin's Lymphoma. Blood 2008; 112(11):517

Zeidan A, Gaile D, Conroy JM, McQuaid DE, Wang ES, Deeb G, Wallace PK, Sait SNJ, Nowak NJ, Wetzler M. Frequent molecular aberrations in normal karyotype (NC) precursor B-cell acute lymphoblastic leukemia (pB-ALL) detected by comparative genomic hybridization. Blood 2007; 110(11 Part 2):135B (Abstract #4270)

de Gaetano M, Quacquaruccio G, di Castelnuovo A, Nowak N, Dorn J, Donati MB, Freudenheim JL, Trevisan M, Iacoviello L. Haplotypes and haplotype-pairs of IL-1 beta and IL-6 genes and risk of non fatal myocardial infarction in the Western New York Acute MI Study. Thrombosis and haemostasis 2011;106(6):1231-1233

Liu C, Morishima M, Yu T, Matsui S, Zhang L, Fu D, Pao A, Costa AC, Gardiner KJ, Cowell JK, Nowak NJ, Parmacek MS, Liang P, Baldini A, Yu YE.Genetic analysis of Down syndrome-associated heart defects in mice. Human genetics 2011; 130(5):623-632

Wetzler M, Andrews C, Ford LA, Tighe S, Barcos M, Sait SN, Block AW, Nowak NJ, Baer MR, Wang ES, Baumann H. Phase 1 study of arsenic trioxide, high-dose cytarabine, and idarubicin to down-regulate constitutive signal transducer and activator of transcription 3 activity in patients aged <60 years with acute myeloid leukemia. Cancer 2011; 117(21):4861-4868

Yao S, Sucheston LE, Smiley SL, Davis W, Conroy JM, Nowak NJ, Ambrosone CB, McCarthy PL Jr, Hahn T. Common genetic variants are associated with accelerated bone mineral density loss after hematopoietic cell transplantation.PloS one 2011; 6(10):e25940

Miliaras D, Conroy J, Pervana S, Meditskou S, McQuaid D, Nowak N.Karyotypic changes detected by comparative genomic hybridization in a stillborn infant with chorioangioma and liver hemangioma. Birth defects research. Part A, Clinical and molecular teratology 2007; 79(3):236-241

Padmanabhan S, Block AW, Wallace P, Tan W, Nowak N, Varadarajan P, Barcos M, Hernandez F, Ketepalli S, Wilding G, Czuczman M, Chanan-Khan A.Concomitant z score and ZAP 70 along with ATM deletion identifies patients with poor survival from the RPCI Chronic Lymphocytic Leukemia Series: A correlation of treatment and survival of B-CLL patients with prognostic variables such as fish, ZAP70 expression, CGH. Haematologica 2008;93(Suppl. 1):416 (Abstract #1053)