The University of Sydney
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Professor Juergen Reichardt

E: juergen.reichardt@bosch.org.au
T: +61 2 9036 3354
F: +61 2 9036 3357
 Personal Homepage
K25 - Medical Foundation Building
The University of Sydney
NSW 2006 Australia

Research interests

As human geneticists and biochemists we wish to understand how the human genome in conjunction with the environment produces the multitude of human phenotypes. We are particularly interested in the contribution of human genetic variation to common, complex significant public health problems. We also have an interest in understanding the genetics of human metabolism and genetic variation thereof.
This laboratory has a longstanding tradition of characterizing human galactose-metabolic enzymes and associated diseases. We are currently also investigating two complex disease phenotypes with significant public health impact: various cancers and heart disease. Our strategy is to dissect these diseases through a step-wise, candidate gene approach. Our systematic choice of candidate genes for these diseases was dictated by the hypothesized involvement of particular metabolic pathways in pathogenesis. In prostate cancer we are currently investigating three androgen metabolic genes since androgens have been reported to regulate cell division in the prostate. We have focused on the steroid 5α-reductase type II (SRD5A2) locus and are currently exploring also the HSD3B2 and HSD17B3 genes. Investigations into colon cancer and atherosclerosis are also under way.

Current national competitive grants

2005

Biology Of Prostate Cancer Prevention Trial (PCPT)
National Institutes of Health (USA) Research Support $286,877 over 5 years

Publications

2010

Flanagan, J, McMahon, G, Brendan Chia, S, Fitzpatrick, P, Tighe, O, O'Neill, C, Briones, P, Gort, L, Kozak, L, Magee, A, Naughten, E, Radomyska, B, Schwartz, M, Shin, J, Strobl, W, Tyfield, L, Waterham, H, Russell, H, Bertorelle, G, Reichardt, J, Mayne, P, Croke, D. The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations. Heredity. 2010; 104:148-54
Musumeci, L, Arthur, J, Cheung, F, Hoque, A, Lippman, S, Reichardt, J. Single Nucleotide Differences (SNDs) in the dbSNP Database May Lead to Errors in Genotyping and Haplotyping Studies. Human Mutation. 2010; 31:67-73

2009

Makridakis, N, Phipps, T, Srivastav, S, Reichardt, J. PCR-free method detects high frequency of genomic instability in prostate cancer. Nucleic acids research. 2009; 37:7441-6
Makridakis, N, Caldas Ferraz, L, Reichardt, J. Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motif. Human mutation. 2009; 30:39-48

2008

Pearce, C, Van Den Berg, D, Makridakis, N, Reichardt, J, Ross, R, Pike, M, Kolonel, L, Henderson, B. No association between the SRD5A2 gene A49T missense variant and prostate cancer risk: lessons learned. Human molecular genetics. 2008; 17:2456-2461
Shai, R, Reichardt, J, Chen, T. Pharmacogenomics of brain cancer and personalized medicine in malignant gliomas. Future oncology. 2008; 4:525-534
Chu, L, Reichardt, J, Hsing, A. Androgens and the molecular epidemiology of prostate cancer. Current opinion in endocrinology, diabetes, and obesity. 2008; 15:261-270
Reichardt, J. Realizing the full potential of the sequenced human genome. Trends in Genetics. 2008. p. 219-220.

2007

Reichardt, J. Quo vadis, genoma? A call to pipettes for biochemists. Trends in biochemical sciences. 2007. p. 529-30.
D'Amico, F, Biancolella, M, Margiotti, K, Reichardt, J, Novelli, G. Genomic biomarkers, androgen pathway and prostate cancer. Pharmacogenomics. 2007; 8:645-661
Reichardt, J, Tilley, W. The 3rd Pacific Rim meeting on breast and prostate cancer: progress in hormonal carcinogenesis and the enduring influence of Ron Ross. Cancer research. 2007; 67:4550-4552
Mehrian-Shai, R, Chen, C, Shi, T, Horvath, S, Nelson, S, Reichardt, J, Sawyers, C. Insulin growth factor-binding protein 2 is a candidate biomarker for PTEN status and PI3K/Akt pathway activation in glioblastoma and prostate cancer. Proceedings of the National Academy of Sciences of the United States of America. 2007; 104:5563-5568
Chokkalingam, A, Stanczyk, F, Reichardt, J, Hsing, A. Molecular epidemiology of prostate cancer: hormone-related genetic loci. Frontiers in bioscience : a journal and virtual library. 2007; 12:3436-3460

2006

Reichardt, J. Unexpected biochemical and pharmacogenetic consequences of SNPs and haplotypes: a cautionary tale for human molecular genetics and epidemiology. Genomics. 2006. p. 673-4.
Mehrian-Shai, R, Reichardt, J. Genomics in breast and prostate cancer: assessment of the current state and future perspectives. Future oncology (London, England). 2006; 2:357-62

2005

Makridakis, N, Buchanan, G, Tilley, W, Reichardt, J. Androgen metabolic genes in prostate cancer predisposition and progression. Frontiers in bioscience : a journal and virtual library. 2005; 10:2892-903
Makridakis, N, Reichardt, J. Pharmacogenetic analysis of human steroid 5 alpha reductase type II: comparison of finasteride and dutasteride. Journal of molecular endocrinology. 2005; 34:617-23
Mehrian Shai, R, Reichardt, J, Ya-Hsuan, H, Kremen, T, Liau, L, Cloughesy, T, Mischel, P, Nelson, S. Robustness of gene expression profiling in glioma specimen samplings and derived cell lines. Brain research. Molecular brain research. 2005; 136:99-103
Salam, M, Ursin, G, Skinner, E, Dessissa, T, Reichardt, J. Associations between polymorphisms in the steroid 5-alpha reductase type II (SRD5A2) gene and benign prostatic hyperplasia and prostate cancer. Urologic oncology. 2005; 23:246-53

2004

Makridakis, N, Akalu, A, Reichardt, J. Identification and characterization of somatic steroid 5 alpha-reductase (SRD5A2) mutations in human prostate cancer tissue. Oncogene. 2004; 23:7399-7405
Foti, D, Reichardt, J. YY1 binding within the human HSD3132 gene intron 1 is required for maximal basal promoter activity: Identification of YY1 as the 3 beta 1-A factor. Journal of Molecular Endocrinology. 2004; 33:99-119
Novelli, G, Margiotti, K, Chiocca, A, Spera, E, Micali, F, Reichardt, J. Pharmacogenetics of human androgens and prostate cancer - an update. Pharmacogenomics. 2004; 5:283-294
Reichardt, J. Molecular genetics of common human diseases including prostate cancer. Cancer Epidemiology Biomarkers & Prevention. 2004; 13:1961S-1962S
Mehrian-Shai, R, Reichardt, J. A renaissance of. haplotypes. 2004; function:Molecular Genetics and Metabolism

2003

Makridakis, N, Ferraz, L, Reichardt, J. Most somatic mutations in human prostate cancer tissue conform to a specific motif. American Journal of Human Genetics. 2003; 73:228-228
Salam, M, Ursin, G, Skinner, E, Dessissa, T, Reichardt, J. Associations between polymorphisms in the steroid 5 alpha-reductase type II (SRD5A2) gene and benign prostatic hyperplasia and prostate cancer. American Journal of Human Genetics. 2003; 73:374-374
Kobayashi, K, Lu, Y, Li, M, Nishi, I, Hsiao, K, Choeh, K, Yang, Y, Hwu, W, Reichardt, J, Palmieri, F, Okano, Y, Saheki, T. Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations. Molecular Genetics and Metabolism. 2003; 80:356-359
Allen, N, Reichardt, J, Nguyen, H, Key, T. Association between two polymorphisms in the SRD5A2 gene and serum androgen concentrations in British men. Cancer Epidemiology Biomarkers & Prevention. 2003; 12:578-581

2002

Goodman, M, Wu, A, Tung, K, McDuffie, K, Cramer, D, Wilkens, L, Terada, K, Reichardt, J, Ng, W. Association of galactose-1-phosphate uridyltransferase activity and N314D genotype with the risk of ovarian cancer. American Journal of Epidemiology. 2002; 156:693-701
Margiotti, K, Kim, E, Pearce, C, Spera, E, Novelli, G, Reichardt, J. Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men. Prostate. 2002; 53:65-68
Salam, M, Reichardt, J, Skinner, E, Paz, L, Ursin, G. Association between body mass and benign prostatic hyperplasia. American Journal of Epidemiology. 2002; 155:s80-s80
Pearce, C, Makridakis, N, Ross, R, Pike, M, Kolonel, L, Henderson, B, Reichardt, J. Steroid 5-alpha reductase type II V89L substitution is not associated with risk of prostate cancer in a multiethnic population study. Cancer Epidemiology Biomarkers & Prevention. 2002; 11:417-418
Cozen, W, Peters, R, Reichardt, J, Ng, W, Felix, J, Wan, P, Pike, M. Galactose-1-phosphate uridyl transferase (GALT) genotype and phenotype, galactose consumption, and the risk of borderline and invasive ovarian cancer (United States). Cancer Causes & Control. 2002; 13:113-120

2001

Makridakis, N, Reichardt, J. Molecular epidemiology of hormone-metabolic loci in prostate cancer. Epidemiologic Reviews. 2001; 23:24-29
Okano, Y, Asada, M, Fujimoto, A, Ohtake, A, Murayama, K, Hsiao, K, Choeh, K, Yang, Y, Cao, Q, Reichardt, J, Niihira, S, Imamura, T, Yamano, T. A genetic factor for age-related cataract: Identification and characterization of a novel galactokinase variant,. . 2001; American Journal of Human Genetics:4
Novelli, G, Margiotti, K, Sangiuolo, F, Reichardt, J. Pharmacogenetics of human androgens and prostatic diseases. Pharmacogenomics. 2001; 2:65-72
Makridakis, N, Reichardt, J. Multiplex automated primer extension analysis: Simultaneous genotyping of several polymorphisms. Biotechniques. 2001; 31:1374-1380
Hsing, A, Chen, C, Chokkalingam, A, Gao, Y, Dightman, D, Nguyen, H, Deng, J, Cheng, J, Sesterhenn, I, Mostofi, F, Stanczyk, F, Reichardt, J. Polymorphic markers in the SRD5A2 gene and prostate cancer risk: A population-based case-control study. Cancer Epidemiology Biomarkers & Prevention. 2001; 10:1077-1082

2000

Margiotti, K, Sangiuolo, F, De Luca, A, Froio, F, Pearce, C, Ricci-Barbini, V, Micali, F, Bonafe, M, Franceschi, C, Dallapiccola, B, Novelli, G, Reichardt, J. Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients. Disease Markers. 2000; 16:147-150
Makridakis, N, Reichardt, J. Biochemical characterization of SRD5A2 gene polymorphisms found in Benign Prostatic Hyperplasia (BPH) patients. American Journal of Human Genetics. 2000; 67:284-284
Novelli, G, Reichardt, J. Molecular basis of disorders of human galactose metabolism: Past, present, and future. Molecular Genetics and Metabolism. 2000; 71:62-65
Makridakis, N, di Salle, E, Reichardt, J. Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. Pharmacogenetics. 2000; 10:407-413

1999

Akalu, A, Reichardt, J. A reliable PCR amplification method for microdissected tumor cells obtained from paraffin-embedded tissue. Genetic Analysis-Biomolecular Engineering. 1999; 15:229-233
Makridakis, N, Ross, R, Pike, M, Crocitto, L, Kolonel, L, Pearce, C, Henderson, B, Reichardt, J. Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA. Lancet. 1999; 354:975-978
Ross, R, Coetzee, G, Pearce, C, Reichardt, J, Bretsky, P, Kolonel, L, Henderson, B, Lander, E, Altshuler, D, Daley, G. Androgen metabolism and prostate cancer: Establishing a model of genetic susceptibility. European Urology. 1999; 35:355-361
Akalu, A, Elmajian, D, Highshaw, R, Nichols, P, Reichardt, J. Somatic mutations at the SRD5A2 locus encoding prostatic steroid 5 alpha-reductase during prostate cancer progression. Journal of Urology. 1999; 161:1355-1358
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