Dr Danuta Z Loesch-Mdzewska
Senior Research Fellow
College of Science, Health and Engineering
School of Psychology and Public Health
Department of Psychology and Counselling
Biological Sciences Building 2, room 116., Melbourne (Bundoora)
B Med Surg, MD (clinical neurology); PhD (human genetics) Warsaw.
Membership of professional associations
Australasian Human Genetics Society, Human Biology Society, Croatian Anthropol Society, Am Assoc Advanc Sci.
Area of study
Before joining La Trobe University, Dr Loesch worked as a clinical neurologist and, subsequently, as a clinician and researcher (Associate Professor) in the Department of Genetics, Institute of Neurology and Psychiatry, Warsaw, Poland, with several periods spent at the Galton Laboratory, University College London conducting research into human genetics supported by MRC, Lalor Foundation, and other grants. Her research focused on genetics (heritability) of human quantitative traits including dermatoglyphic patterns on fingers, palms and soles, and abnormalities of these traits in chromosomal and some genetic conditions. These works were summarized in the book entitled 'Quantitative Dermatoglyphics: Classification, Genetics and Pathology', Oxford University Press (Oxford) 1983.
In 1980 she was invited by the Australian Department of Education under the Australian-European Awards Programme to work at the RSBS, Australian National University. She joined the School of Genetics, and then Psychology, at La Trobe University in 1984, and has since been supported by the NHMRC (including the Fellowship), ARC, NIH (US), and other minor research grants. She has been conducting multidisciplinary studies of genotype-phenotype relationships in inherited conditions determined by unstable mutations (trinucleotide CGG repeat expansions) in the Fragile X Mental Retardation 1 gene, using a wide range of phenotypic measures such as finger and palmar pattern intensities and ridge count, anthropometric measures and neuropsychological scores, which were related to the size of CGG expansion and the level of FMR1 transcripts.Special emphasis was on analysis based on data from large families with FMR1 mutations leading to the range of disorders, from severe neurodevelopmental abnormality, Fragile X Syndrome, to late onset progressive neurodegenerative disorders in the form of tremor/ataxia and dementia (FXTAS). These studies have been possible through extensive collaborations with neurology clinics in Victoria, Tasmania and Queensland (access to study participants and tissue samples), and research laboratories specialized in relevant fields including Murdoch Institute in Melbourne, Eskitis Institute in Brisbane and Department of Biochemistry and Molecular Medicine at UC Davis. In recent years these studies led to characterization of the range of neurological and neuropsychological manifestations occuring in older carriers of small CGG expansion FMR1 alleles (premutation), as well as to identification of the smallest expansion alleles (grey zone)as the commonest genetic risk factor for Parkinson's disease. Moreover, the latest results of studies conducted in collaboration with Microbiology Section at La Trobe University revealed genetic and other molecular mechanisms (including mitochondrial dysfunction) underlying neurodegenerative process in both FXTAS and Parkinson's disease, and these studies are continuing.
Current research interests:
- genetic background and cellular pathology determining neuropsychological and clinical changes in FMR1 gene (fragile X) - associated disorders, with special emphasis on late-onset neurogenerative conditions in aged carriers of FMR1 premutation alleles;
- the role of 'grey zone' FMR1 alleles in the risk and progression of Parkinson's disease;
- the relationships between white matter lesions assessed using MR images with motor and cognitive impairments in neurodegenerative conditions in carriers of premutation or grey zone alleles.
- Grigsby, J., Brega, A.G., Jacquemont, S., Loesch, D.Z., Leehey, M.A., Goodrich, G.K., Hagerman, R.J., Epstein, J., Wilson, R., Cogswell, J.B., et al. 2006. Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). J Neurol Sci 248:227-33.
- Cohen, S., Masyn, K., Adams, J., Hessl, D., Rivera, S., Tassone, F., Brunberg, J., DeCarli, C., Zhang, L., Cogswell, J., Loesch, D.Z., et al. 2006. Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology 67:1426-31.
- Loesch, D.Z., Litewka, L., Churchyard, A., Gould, E., Tassone, F., and Cook, M. 2007. Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats. J Clin Neurosci 14:245-8.
- Loesch, D.Z., Bui, Q.M., Huggins, R.M., Mitchell, R.J., Hagerman, R.J., and Tassone, F. 2007. Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats. J Med Genet 44:200-4.
- Loesch, D.Z., Cook, M., Litewka, L., Gould, E., Churchyard, A., Tassone, F., Slater, H.R., and Storey, E. 2008. A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes. J Med Genet 45:179-81.
- Loesch, D.Z., Godler, D.E., Khaniani, M., Gould, E., Gehling, F., Dissanayake, C., Burgess, T., Tassone, F., Huggins, R., Slater, H., et al. 2009. Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms. Am J Med Genet A 149A:2306-10.
- Loesch, D.Z., Khaniani, M.S., Slater, H.R., Rubio, J.P., Bui, Q.M., Kotschet, K., D'Souza, W., Venn, A., Kalitsis, P., Choo, A.K., et al. 2009. Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Clin Genet 76:471-6.
- Godler, D.E., Tassone, F, Loesch, D.Z, Taylor, A.K, Gehling, F, Hagerman, R.J, Burgess, T, Ganesamoorthy, D, Hennerich, D, Gordon, L, Evans, A, Choo, KHA, Slater, H. 2010. Methylation of novel markers of fragile X alleles is inversely correlated with FMRP and FMR1 activation ratio. Hum Mol Genet: 19, 1618-32.
- Loesch, D.Z., Godler D.E., Evans, A., Bui M, Gehling, F., Kotschet, K.E., Trost, N., Storey, E, Stimpson, P.E., Kirk, J., Kinsella, G., Slater, H.R., Thorburn, D.R., Venn, A., Horne, M. 2011. Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism. Genet Med. 13(5):392-9.
- Loesch, D.Z., Kotschet, K.E., Trost, N., Greco, C., Kinsella, G., Slater, H.R., Venn, A., Horne, M. (2011). White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism. Am J Med Genet B Neuropsychiatr Genet 156 (4):502-6.
- Godler, D.E., Slater, H.R., Bui, Q.M., Ono, M., Gehling, F., Francis, D., Amor, D.J., Hopper, J., Hennerich, D., Taylor, A.K., Hagerman, R., Loesch, D.Z. 2011. FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles. J Mol Diagn 13(5):528-36.
- Loesch, D.Z., Hagerman, RJ. Unstable Mutations in the FMR1 Gene and the Phenotypes in: Tandem Repeat Polymorphisms: Genetic Plasticity, Neural Diversity and Disease (AJ Hannah, ed.). Landes Bioscience, Texas, USA, 2011.
- Loesch, D.Z., Sherwell, S., Kinsella, G., Tassone, F., Taylor, A., Amor, D., Sung, S.,Evans, A. 2012. Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene. Clin Genet 82(1):88-92.
- Godler, D.E., Slater, H.R., Bui, Q.M., Ono, M.Y., Gehling, F., Inaba, Y., Francis, D., Hopper, J.L., Kinsella, G., Amor, D., Hagerman, R.J., Loesch, D.Z. 2012. Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study. Clin Chem 58(30):590-8.
- Hamlin, A.A., Sukharev, D., Campos, L., Mu, Y., Hessl, D., Nguyen, D.V., Loesch, D.Z., Hagerman, R.J. 2012. Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet A 158A(6):1304-9.
- Hagerman, R.J.,Pak, J.S., Ortigas, M., Olichney O., Frysinger, R., Harrison, M., Cornman, E., Loesch, D.Z., Bittar, R.R., Peppard, R.,Zhang, L.,Shahlaie, K. 2012. Case Series: Deep Brain Stimulation in Patients with FXTAS. Brain Disorders and Therapy 1(2) 1000104 (open access).
- Inaba,Y., Herlihy, A.S., Schwartz, C.E., Skinner, C., Bui, Q.M., Cobb, J., Shi, E.Z., Francis, D., Arvaj, A., Amor, D.J., Pope,.K..,Wotton, T., Cohen, J., Hewitt,J.K., Hagerman, R.J., Metcalfe, S.A., Hopper, J.L., Loesch, D.Z., Slater, H.R., Godler, D.E. 2012. Fragile X Related Element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study. Genet Med October 11. Doi:10.1038/gim 2012.134. [Epub ahead of print].
- Loesch, DZ., Slater H, Hills L, Bui M, Silburn P, Mellick G. 2012. New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease. Clinic Genet Nov 30, doi: 10.1111/cge.12070 [Epub ahead of print].
- Godler, DE., Inaba, Y.,Shi, EZ, Skinner, C., Bui, QM., Amor, DJ., Hopper, JL., Loesch, DZ., Hagerman , RJ., Schwartz, CE., Slater,HR. Relationships between age and epi-genotype of the FMR1 exon 1 / intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty. Hum Mol Genet 2013 22(8):1516-1524.
- Loesch DZ, Tassone F, Lo J, Slater HR, Hills LV, Bui MQ, Silburn PA, Mellick GD. New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease. Clin Genet. 2013 Oct;84(4):382-5. doi: 10.1111/cge.12070.
- Inaba Y, Herlihy AS, Schwartz CE, Skinner C, Bui QM, Cobb J, Shi EZ, Francis D, Arvaj A, Amor DJ, Pope K, Wotton T, Cohen J, Hewitt JK, Hagerman RJ, Metcalfe SA, Hopper JL, Loesch DZ, Slater HR, Godler DE. Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study. Genet Med. 2013 Apr;15(4):290-8. doi: 10.1038/gim.2012.134.
- Trost N, Cook M, Hammersley E, Bui MQ, Brotchie P, Burgess T, Slater H, Storey E, Loesch DZ. White matter changes in patients with Parkinson's disease carrying small CGG expansion in FMR1 alleles: A pilot study. Neurodegener Dis 2013; doi:10.1159/000356190.
- Green C, Dissanayake C, loesch D. A review of physical growth in children and adolescents with Autosm Spectrum Disorders. Developmental Review 2014; 36:156-178.
- Loesch DZ, Bui MQ, Hammersley E, Schneider A, Storey E, Stimpson P, Burgess T, Godler D, Slater H, Tassone F, Hagerman RJ, Hessl D. Psychopathology in female carriers of premutation FMR1 allele assessed showing complex relationship with the size of CGG expansion. Clin Genet 2015; 87: 173–178.
- Inaba Y,Schwartz CE, Bui QM, Li X,Skinner C,Field M, Wotton T,Hagerman R, Francis D, Amor D, Hopper J, Loesch DZ, Bretherton L,Slater H, Godler D. Early Detection of Fragile X Syndrome: Applications of a Novel Approach for Improved Quantitative Methylation Analysis in Venous Blood and Newborn Blood Spots. Clin Chem 2014 60(7):963-73. doi: 10.1373/clinchem.2013.217331.
- Yrigollen CM, Sweha S, Johnson BD, Kravis EB, Zhou L, Carvajal IF, Faradz SMH, Amiri K, Shaheen H, Polli R, Bonilla LM, Mellick GD, Loesch D, Silva G, Cogram P, Murgia A, Tassone F. Distribution of AGG interruption patterns within nine world populations. Intractable & Rare Disease Research 2015; 3(4):153-161. doi:10.5582/irdr.2014.01028.
- Annesley SJ, Kay ST, De Piazza SW, Stanislav O, Hammersely E, Allan CY, Francione LM, Bui MQ, Chen Z-P, Ngoei KRW, Tassone F, Kemp BE, Storey E, Evans A, Loesch DZ, Fisher PR. Immortalized Parkinson's Disease lymphocytes have enhanced mitochondrial respiratory activity. Dis Models & Mech 2016; Nov 1; 9(11):1295-1395.
- Loesch DZ, Annesley SJ, Trost N, Bui MQ, Lay ST, Storey E, De Piazza SW, Stanislav O, Francione LM, Hammersley EM, Tassone F, Francis D, Fisher PR. Mitochondrial respiratory activity is elevated in lymphoblasts of carriers of pemutation in the FMR1 gene and it correlates with the white matter lesions of the brain. Neurodegener Dis 2017; 17(1):22-30.
Earlier publications (1984-2005) during La Trobe period
63. Loesch, D.Z. and Martin, N.G. (1984). Finger ridge patterns and tactile sensitivity. Ann. Hum. Biol., 11 (2): 113.
64. Loesch, D.Z. and Martin, N.G. (1984). Relationships between minute characteristics of finger ridges and pattern size and shape. Ann. Hum. Biol., 11(2): 125.
65. Heath, A.C., Martin, N.G., Eaves, L.J. and Loesch, D.Z. (1984). Evidence for polygenic epistatic interactions in man? Genetics, 106: 719.
66. Loesch, D.Z. & Wolanski, N. (1985). Dermal ridge patterns and fertility in a Polish rural sample. Ann. Hum. Biol., 12(5): 463.
67. Loesch, D.Z. & Hay, D.A. (1985). Phenotypic diversity of fragile X females and its genetic implications (Abstract). In Proceedings of Human Genetics Society of Australasia Meeting, Sydney, August 26th-30th, 1985, University of Sydney.
68. Loesch, D.Z. & Hay, D.A. (1985). What is fragile X? La Trobe University.
69. Loesch, D.Z. (1986). Bivariate and multivariate analysis of the skin ridge pattern intensities. Am. J. Phys. Anthrop., 69: 287.
70. Loesch, D.Z. (1986). Dermatoglyphic studies in the fragile X syndrome: A causal hypothesis points to X-Y interchange, Ann. Hum. Genet., 50(4): 385.
71. Loesch, D.Z., Hay, D.A., Sutherland, G.R., Halliday, J., Judge, C., & Webb, G.C. (1987). Phenotypic variation in male transmitted fragile X: Genetic inferences. Am. J. Med. Genet., 22(2): 401.
72. Loesch, D.Z. (1987). Factor analysis of ridge patterns and hand measurements in normal and fragile X males. Coll. Anthrop. 11(2): 305.
73. Loesch, D.Z. & Przybyla, B. (1988). Dermatoglyphic variation and weight and length at birth. Am. J. Phys. Anthrop., 75(1): 101.
74. Loesch, D.Z. (1988). Discriminant analysis of dermatoglyphic measurements in fragile X males and females. Clin. Genet. 33: 169.
75. Loesch, D.Z. & Hay, D.A. (1988). Clinical features and reproductive patterns in fragile X female heterozygotes. J. Med. Genet. 25: 407.
76. Loesch, D.Z., Lafranchi, M., & Scott, D. (1988). Anthropometry in Martin-Bell Syndrome. Am. J. Med. Genet. 30: 149.
77. Loesch, D.Z. & Wilson, S.R. (1989). Multivariate analysis of body shape in fragile X (Martin-Bell) syndrome. Am. J. Med. Genet. 33: 200.
78. Wilson, S.R. & Loesch, D.Z. (1989). Principal component analysis of shape variables in adult individuals. Ann. Hum. Biol. 16(4): 361.
79. Hay, D.A. & Loesch, D.Z. (1989). Fragile X: The new challenge in intellectual disability. Psychobiology: Issues and Applications. N.S. Bond and D.A.T. Siddle (eds). Elsevier Science Publishers B.V. (North Holland).
80. Loesch, D.Z. & Scott, D. (1989). Application of the anthropometric discriminant functions in estimation of carrier probabilities in Martin-Bell Syndrome. Clin. Genet. 36: 145.
81. Loesch, D.Z. & Lafranchi, M. (1990). Relationships of epidermal ridge patterns with body measurements and their evolutionary significance. Am. J. Phys. Anthrop. 82: 183.
82. Loesch, D.Z., Lafranchi, M. & Ruffolo, C. (1990). Hand locomotor functions, body structure, and epidermal ridge patterns: Preliminary study. Hum. Biol. 62(5): 665.
83. Loesch, D.Z., Lafranchi, M. & Huggins, R. (1991). Application of anthropometric measurements in X-linked disorders, with special reference to fragile X syndrome. J.Egypt Publ. Health Assoc. Vol 66 (Suppl): pp. 413-437.
84. Loesch, D.Z., Hay, D.A. & Leversha, M. (1991). Problems in ascertainment of transmitting males in Martin-Bell Syndrome. Am. J. Med. Genet. 41: 410.
85. Loesch, D.Z. , Lafranchi, M. & Huggins, R. (1992). New anthropometric scale for discrimination between sexes. Ann. Hum. Biol. 19(2): 177.
86. Loesch, D.Z. & Huggins, R. (1992). Fixed and random effects in the variation of the finger ridge count: A study of fragile X families. Am. J. Hum. Genet. 50: 1067.
87. Yu, S., Mulley, J., Loesch, D. & Turner, G. et al. (1992). Fragile X syndrome: Unique genetics of the heritable unstable element. Am. J. Hum. Genet. 50: 968.
88. Mulley, J.C., Yu, S., Gedeon, A.K., Donnelly, A., Turner, G., Loesch, D., Chapman, C.J. et al (1992). Experience with direct molecular diagnosis of fragile X. J. Med. Genet. 29: 368.
89. Loesch, D.Z., Hay, D.A. & Sheffield, L. (1992). Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy. Amer. J. Med. Genet. 44: 543.
90. Loesch, D.Z., Sheffield, L. & Hay, D.A. (1993). Between generation differences in ascertainment and penetrance: relevance to genetic hypotheses in fragile X. Hum. Genet. 91: 469.
91. Loesch, D.Z., Huggins, R.M. & Chin, W.F. (1993). Effect of fragile X on physical and intellectual traits estimated by pedigree analysis Am. J. Med. Genet. 46: 415.
92. Loesch, D.Z. & Sampson, M. (1993). Effect of the fragile X anomaly on body proportions estimated by pedigree analysis. Clin. Genet. 44: 82.
93. Loesch, D.Z., Huggins, R.M., Hay, D.A., Gedeon, A.K., Mulley, J.C., Sutherland, G.K. (1993). Genotype-phenotype relationships in fragile X: A family study. Am. J. Hum. Genet. 53(5): 1064.
94. Loesch, D.Z. (1994). Epidermal ridge patterns in medicine. (Invited article.) Med. J. Aust. 161(11/12): 709.
95. Loesch, D.Z., Hay, D.A. & Mulley, J. (1994). Transmitting males and carrier females in fragile X - revisited. Am. J. Med. Genet. 51: 392.
96. Huggins, R.M. & Loesch, D.Z. (1994). Applications of robust inference for variance components models: the detection of major gene effects in finger ridge counts in normal and fragile X families. Aust. J. Stat. 36(3): 271.
97. Mulley, J.C., Yu, S., Loesch, D.Z., Hay, D.A., Donnelly, A., Gedeon, A.K., Carbonell,P.,Lopez, I., Glover, G., Gabarron, I., Yu, P.W.L., Baker, E., Haan, E.A., Hockey, A., Knight, S.J.L., Davies, K.E., Richards, R.I. & Sutherland, G.R. (1995). FRAXE and mental retardation. J. Med. Genet. 32:162.
98. Huggins, R.M. & Loesch, D.Z. (1995). The use of robust statistical methods to determine the effect of fragile X on means and variance components of a quantitative trait. Genet. Epidemiol.12(3):279.
99. Loesch, D.Z., Hopper, J., Rogucka, E. & Huggins, R.M. (1995). Timing and genetic rapport between growth in skeletal maturity and height around puberty: similarities and differences between girls and boys Am. J. Hum. Genet. 56:753.
100. Loesch, D.Z., Huggins, R.M. & Hoang, N.H. (1995). Growth in stature in fragile X families: a mixed longitudinal study. Am. J. Med. Genet. 58:249.
101. Loesch, D.Z., Huggins, R.M., Petrovic, V., Slater, H. (1995). Expansion of CGG repeat in fragile X depends on sex of the offspring: Genetic inferences. Am. J. Hum. Genet. 57:1408.
102. Loesch, D.Z., Huggins, R.M., Rogucka, E., Hopper, J. & Hoang, N.G. (1995). Genetic correlates of menarcheal age: A multivariate twin study. Ann. Hum. Biol. 22(6):479.
103. Loesch, D.Z. (1996). Fragile X-clinical associations (invited). Am. J. Med.Genet. 64 (2):413.
104. Loesch, D.Z., Petrovic, V., Francis, D.I. & Slater, H. (1997). Reduction of CGG trinucleotide expansion from mother to offspring in seven fragile X families. Clin. Genet. 51/1:1.
105. Loesch, D.Z. (1997). FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male. (Letter to the Editor). Brit. Med. J. 34 (4): 350.
106. Hill M, Nowson C, Huggins, RM, Tavener M. & Loesch DZ (1997). Self reported lifestyles of Melbourne schoolchildren 1992-1995: Relationship with physique. Austr J Nutr Diet 54:118.
107. Loesch DZ & Huggins RM (1998) Mixed longitudinal study of Victorian schoolchildren.
La Trobe University Press.
108. Huggins RM, Loesch DZ & Hoang NH (1998). A comparison of methods of fitting models to twin data. Aust NZ J Stat 40(2):129.
109. Huggins RM & Loesch DZ (1998). On the analysis of mixed longitudinal growth data. Biometrics 54:583.
110. Loesch DZ, Huggins RM & Stokes KM (1999). The relationship of birth weight and length with growth in length and body diameters from 5 years of age to maturity. Am J Hum Biol 11:772.
111. Cohen J & Loesch DZ (1999). Fragile X syndrome-what do professionals know about it? Med J Austr 190:624.
112. Loesch DZ, Stokes, K & Huggins RM (2000). Secular trend in body height and weight of Australian children and adolescents. Am J Phys Anthrop 111:545.
113. Tassone F, Hagerman RJ, Loesch DZ, Lachiewicz A, Taylor AK & Hagerman PJ (2000). Fragile X males with unmethylated full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am J Med Genet 94(3):232.
114. Gould EL, Loesch DZ, Martin MJ, Hagerman RJ, Armstrong SM & Huggins RM (2000). Melatonin profiles and sleep characteristics in boys with fragile X syndrome: A preliminary study. Am J Med Genet 95:307.
115. Huggins RM, Hoang NH & Loesch DZ (2000). On the analysis of longitudinal data from twins. Genetic Epidemiol 19:345.
116. Huggins RM, Qian G & Loesch DZ (2001). Inference on random coefficient models for haplotype effects in dynamic mutations using MCMC. Proceedings of the Symposium on Inference for Stochastic Processes (Eds: IV Basawa, CC Heyde & RL Taylor). Springer Verlag, New York, pp.185-202.
117. Loesch DZ, Huggins RM & Bui MM (2002). Application of robust pedigree analysis in studies of complex genotype-phenotype relationships in fragile X syndrome. Am J Med Genet 107:136.
118. Loesch DZ, Huggins RM, Bui MM, Taylor AK & Hagerman RJ (2002). Effect of the deficits of FMRP on cognitive status of fragile X males and females assessed by robust pedigree analysis. Dev Behav Pediat 23(6) : 416.
119. Loesch DZ, Huggins RM, Bui QM, Taylor AK, Hagerman RJ (2003). Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: A new perspective. Am J Med Genet 118A(2):115.
120. Loesch DZ, Bui QM, Grigsby J, Butler E, Epstein J, Huggins RM, Taylor AK, Hagerman RJ (2003). Effect of the fragile X status categories and the FMRP levels on executive functioning in fragile X males and females. Neuropsychology 17(4):646.
121. Loesch DZ, Huggins RM, Butler E, Taylor A, Hagerman RJ (2003). Effect of the fragile X status categories on cognitive profiles of fragile X males and females assessed by robust pedigree analysis. Am J Med Genet 23(6):416.
122. Saha S, Loesch DZ, Chant D, Welham J, El-Saadi O, Fananas L, Mowry B, McGrath J (2003). Directional and fluctuating asymmetry in finger and a-b ridge counts in psychosis: a case-control study. BMC Psychiatry 3 (March 23) : 3.
123. Loesch DZ, Huggins RM, Hagerman RJ (2004). Phenotypic variation and FMRP levels in fragile X. Ment Retard Dev Disabil Res Rev 10(1):31-41.
124. Huggins RM, Loesch DZ, Qian GQ, Bui QM, Mitchell RJ, Dobson M, Taylor AK (2004). Hierarchical Bayes model for random haplotype and family effects in the transmission of fragile X. Genet Epidemiol, 26(4):294-304.
125. Huggins RM, Loesch DZ (2004). Robust nonparametric estimation of genotype-phenotype relationships in human pedigrees. Aust N Z J Stat 46(4):601-613.
126. Qian G, Huggins RM, Loesch DZ (2004). Application of the Rasch model in 16. Huggins RM, Loesch DZ, Qian GQ, Bui QM, Mitchell RJ, Dobson M, Taylor categorical pedigree analysis using MCEM: I Binary data. Discussiones Mathematicae, Probability and Statistics 24:255-280.
127. Mitchell RJ, Holden JA, Cuiling Z, Curlis Y, Slater HR, Burgess T, Kirkby KC, Carmichael A, Heading KD, Loesch DZ (2004). FMR1 (fragile X) alleles in Tasmania: a screening study of the special educational needs (SEN) population. Clin Genet 67:38-46.
128. Curlis Y, Cuiling Z, Holden JA, Kirkby K, Loesch DZ, Mitchell J (2005). Haplotype study of intermediate-length alleles at the fragile X (FMRI) gene: ATL1, FMRb, and microsatellite haplotypes differ from those found in common-size FMRI alleles. Hum Biol 77:137-151.
129. Loesch DZ, Churchyard A, Brotchie P, Marot M, Tassone F. (2005). Evidence for, and aspectrum of, neurological involvement in fragile X premutation: FXTAS and beyond. Clin Genet 67: 412-417.
130. Bui QM, Huggins RM, Qian GQ, Loesch DZ (2005). Random effects models for the transmission of dynamic mutations. 2004 Proceedings of the American Statistical Association, Statistical Computing Section (CD-ROM), Alexandria, VA: American Statistical Association.
131. Loesch DZ, Bui QM, Kelso W, Huggins RM, Slater H, Warne G, Bergman P, Rodda C, Mitchell RJ, Prior M. (2005). Effect of Turner’s syndrome and X-linked imprinting on cognitive status: analysis based on pedigree data. Brain Dev 27(7):494-503.
132. Loesch DZ, Litewka L, Brotchie P, Huggins RM, Tassone F, Cook M. (2005). A MRI volumetric study in older carriers of a premutation in the FMR1 gene. Ann Neurol 58(2):326-330.
133. Hessl D, Tassone F, Loesch DZ, Berry-Kravis E, Leehey MA, Gane LW, Barbato I, Rice C, Gould E, Grigsby J, Wegelin J, Harris S, Lewin F, Weinberg D, Hagerman P, Hagerman RJ. (2005). Abnormal elevation of FMR1mRNA is associated with psychopathology in adults with the fragile X premutation. Neuropsychiatr Genet. 139B(1):115-121.
Project 1. NIH USA (UC Davis)-Australia (La Trobe University) collaborative grant (2017-2022). Title: Genotype-phenotype relationships in fragile X families: A longitudinal study of the late onset FMR1 premutation-associated disorders. This study investigates the clinical and cellular molecular biomarkers of progress of the Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) in carriers of FMR1 premutation alleles, and the relationship between the clinical and cellular markers over time in the affected individuals.
Project 2. Brain Foundation/Bethleem Griffith Foundation Australia research grant (2017/2018). Title: The role of grey zone FMR1 alleles in the origin and progress of Parkinson's disease. This study addresses the clinical relevance of common grey zone (GZ) CGG expansions in the FMR1 gene to the risk and progression of parkinsonian disorders. The FMR1 transcripts are elevated in GZ carriers, and mitochondrial dysfunction is involved in these transcripts’ neurotoxicity. Our earlier results also showed that GZ alleles are significantly more common in those with parkinsonism than in the general population. This study aims to confirm the role of GZ alleles in the genesis, severity, and phenotypic features of Parkinson's disease by comparison of motor and neuropsychological scores, white matter lesion and other relevant feaures, as well as cellular metabolism and other biomarkers between carriers and non-carriers of this allele diagnosed with parkinson's disease.
Project 3. Michael Fox Parkinson's Foundation research grant (2016/2018). Title: Novel blood biomarkers for Parkinson's disease. The aim of this study is to develop molecular stress response biomarkers for Parkinson's disease presence and progression that can be assayed using cultured blood lymphoblasts. These biomarkers are correlated with the measures of motor and cognitive impairments in a large sample of patients with this disease.