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Network Member Profile

Current Field of Study

• The molecular basis for dynamic mutations - normal and disease causing roles for repeat sequences
• Comparative molecular analysis of chromosomal fragile sites and their roles in human disease
• The role of human genes in disease - the molecular pathway from genotype to phenotype
• Identification and application of genetic markers in the management of human disease

Australian Collaborators

• Fragile Sites and Chromosomal Instability in Cancer’
  • Dr. Deon Venter, Peter MacCallum Cancer Institute, East Melbourne, Victoria
• Dr. Georgia Chenevix-Trench, Queensland Institute of Medical Research, RBH, Brisbane, Queensland
• Dr. Grant Booker, School of Molecular and Biomedical Sciences, University of Adelaide, SA
• Prof. Rob Saint, Research School of Biological Sciences, ANU, Canberra, ACT
• Role of huntingtin in pathogenesis and development’
• Dr. Michael Lardelli, School of Molecular and Biomedical Sciences, University of Adelaide, SA

International Collaborators

• Fragile Sites and Chromosomal Instability in Cancer’
  • Dr. NanShan Chang, Guthrie Institute, Sayre, Pennsylvania, USA
  • Dr. Catherine Freudenreich, Tufts University, Medford, Massachusetts, USA
  • Dr. Bob Hollingsworth, GlaxoSmithKline Genetics, Research Triangle Park, North Carolina, USA
• Pseudoxanthoma Elasticum’
• Dr. Berthold Struk, Harvard University, Boston, USA,
• Prof. Klaus Lindpaintner, Roche Genetics, Basel, Switzerland
• Genetics of Rheumatoid Arthritis and Inflammatory diseases’
• Dr. Daniel Kastner, National Institutes of Health, Washington DC, USA

Facilities

• Animal models of human genetic disease
• Drosophila facility
• Zebrafish facility
• Microarray facility
• Real time quantitative PCR

Recent Publications

PEER REVIEWED PUBLICATIONS

Tucker, B., Richards, R.I., and Lardelli, M. (2006) Contribution of mGluR and Fmr1 Functional Pathways to Neurite Morphogenesis, Craniofacial Development and Fragile X Syndrome. Human Molecular Genetics 15: 3446-3458.

O'Keefe, L.V. and Richards, R.I. (2005) Common Chromosomal Fragile Sites in Cancer: Focus on FRA16D. Cancer Letters 232: 37-47.

Richards, R.I. and McLeod, C. (2005) RNA-Mediated Neurodegeneration Caused by the Fragile X Premutation rCGG Repeats in Drosophila. Chem. Tracts 18: 153 - 158.

O'Keefe, L., Liu, Y-H., Perkins, A., Dayan, S., Saint, R.B., and Richards, R.I. (2005) FRA16D common chromosomal fragile site oxido-reductase (FOR/WWOX) protects against the effects of ionising radiation in Drosophila. Oncogene 24: 6590-6596

Miksch S, Lumsden A, Guenther UP, Foernzler D, Christen-Zach S, Daugherty C, Ramesar RK, Lebwohl M, Hohl D, Neldner KH, Lindpaintner K, Richards RI, Struk B. (2005). Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. Human Mutation 26(3):235-248.

Finnis M, Dayan S, Hobson L, Chenevix-Trench G, Friend K, Ried K, Venter D, Woollatt E, Baker E, Richards RI. (2005). Common chromosomal fragile site FRA16D mutation in cancer cells. Human Molecular Genetics 14(10):1341-9.

McLeod, C., O'Keefe, L. and Richards, R.I. (2005) The pathogenic agent in Drosophila models of 'polyglutamine' diseases. Human Molecular Genetics 14(8):1041-8.

Dudding, T.E., Friend, K., Schofield, P.W., Lee, S., Wilkinson, I.A., Richards, R.I. (2004) Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. Neurology 63: 2288-92

La Spada A.R., Richards, R.I., Wieringa, B. (2004) Dynamic mutations on the move in Banff. Nature Genetics 36: 667-70

Tucker, B., Richards, R., Lardelli, M. (2004) Expression of three zebrafish orthologs of human FMR1-related genes and their phylogenetic relationships. Development, Genes and Evolution 214: 567-74

Cai, L., Lumsden, A. L., Guenther, U.P., Neldner S.A., Zuch, S., Ramesar, R., Hohl, D., Callen, D.F., Neldner K.H., Lindpaintner, K., Richards, R.I., and Struk, B. (2001) A novel mutation exists the Transmembrane Transporter Protein, ABC-C6 and its pseudogene – Implications for mutation analysis in Pseudoxanthoma Elasticum. Journal of Molecular Medicine 79: 536-546.

Richards, R.I. (2001) Fragile and unstable chromosomes in cancer: causes and consequences. Trends in Genetics 17: 339-345.

Richards, R.I. (2001) Dynamic Mutations: a decade of unstable expanded repeats. Human Molecular Genetics 10: 2187-2194.

Mangelsdorf, M., Ried, K., Woollatt, E., Dayan, S., Eyre, H., Finnis, M., Hobson, L., Nancarrow, J., Venter, D., Baker, E., Richards, R.I. (2000) Chromosomal Fragile Site FRA16D and DNA Instability in Cancer. Cancer Research 60: 1683-1689.

Cai, L., Struk, B., Adams, M.D., Ji1, W., Haaf, T., Kang, H-L., Dho, S.H., Xu, X., Ringpfeil, F., Nancarrow, J., Züch, S., Schaen, L., Niu, T., Chung, J., Lunze, K., Verrecchia, B., Goldsmith, L.A., Viljoen, D., Figuera, L.E., Fuchs, W., Lebwoh, M., Uitto, J., Richards, R.I., Hohl, D., Ramesar, R., Callen, D.F., Kim, U-J., Doggett, N.A., Neldner K.H. and Lindpaintner, K.A (2000) 500 Kb Region on chr 16p13.1 Contains the Pseudoxanthoma Elasticum Locus: High Resolution Mapping and Genomic Structure. Journal of Molecular Medicine 78: 36-46.

Ried, K., Finnis, M., Hobson, L., Mangelsdorf, M., Dayan, S., Nancarrow, J., Woollatt, E., Kremmidiotis, G., Gardner, A., Venter, D., Baker, E., Richards, R.I. (2000) Common chromosomal fragile site FRA16D DNA sequence: Identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells. Human Molecular Genetics 9: 1651-1663.

Struk, B., Cai, L., Zach, S., Ji, W., Chung, J., Lumsden, A., Stumm, M., Schaen, L., Kim, C-A. Goldsmith, L.A., Viljoen, D., Figuera, L.E., Fuchs, W., Ramesar, R., Hohl, D., Richards, R.I., Neldner K.H. and Lindpaintner, K. (2000) Mutations in the Gene Encoding the Transmembrane Transporter Protein, ABC-C6, Cause Pseudoxanthoma Elasticum. Journal of Molecular Medicine 78: 282-286.

Handt, O., Baker, E., Dayan, S., Gartler, S., Woollatt, E., Richards, R.I. and Hansen, R.S. (2000) Analysis of replication timing at the FRA10B and FRA16B Fragile Site loci. Chromosome Research 8: 677-688.

BOOKS

Richards, R.I. and Friend, K. (2002) Polyglutamine repeats. In 'Encyclopedia of Molecular Medicine' John Wiley & Sons, Inc.

Richards, R.I. and Sutherland, G.R. (2001) Dynamic Mutations. In 'Encyclopedia of Genetics' pp 593-597.

Sutherland, G.R. and Richards, R.I. (2001) Fragile X Syndrome. In 'Encyclopedia of Genetics' pp 726-728.