School of Psychological Science

		Dr Danuta Z. Loesch Hon Senior Research Fellow		Phone: +61 3 9479 1382 Fax: +61 3 9479 3666 d.loesch@latrobe.edu.au Room 116 Biological Sciences Building 2
		B Med Surg (Warsaw), MD (Warsaw), PhD (Warsaw)

Before joining La Trobe University I 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.

In 1980 I was invited by the Australian Department of Education under the Australian-European Awards Programme to work at the RSBS, Australian National University. I joined the School of Genetics, and then Psychology, at La Trobe University in 1984, and have since been supported by the NHMRC (including the Fellowship), ARC, NIH (US), and other minor research grants.

Recent Publications

Grants

Major scientific achievements (from most recent to earlier ones).

• A comprehensive study of the effect of dynamic mutation in FMR1 (fragile X) gene on psychological and physical phenotype, including identification of specific cognitive and other deficits associated with a depletion of the FMR1 protein in a fragile X syndrome, based on family data.
• A pioneer study of the inheritance of fragile X (collaboration with Prof G. Sutherland, Department of Genetics, Children’s and Women’s Hospital in Adelaide).
• Development of genetic models based on pedigree data, and implementation of these approaches in studies of the effects of a disorder, and of background genes, on cognitive and physical measures (collaboration with Dr Richard Huggins, Department of Statistics, LTU).
• Identification of growth anomaly in fragile X and its relationship with the genotype.
• Establishing growth standards for Victorian schoolchildren and genetic effects on normal growth using pedigree analysis; demonstration of secular trend in growth of the Australians.
• New (topological) classification of dermatoglyphic patterns in humans, and implementation of this approach in studies of genetics of these highly heritable traits, and of the effect of chromosomal anomalies and some other congenital defects. Discovery of the effect of a dosage of sex-chromosome on finger ridge count and ridge breadth (collaboration with Prof L.S. Penrose, FRS, University College London). These works were summarized in a book published in 1986 by Oxford University Press, Oxford ( D.Z. Loesch: Quantitative Dermatoglyphics: Classification, Genetics, Pathology).

Current research projects

• Genotype-phenotype relationships in fragile X, with special emphasis on the effect of a full mutation in the FMR1 gene on autistic behaviours, and of a premutation in this gene on the occurrence of progressive neurodegenerative disorder, with consideration of background genetic effects on these manifestations.
• A study of prevalence, mutation rate, and neuropsychological manifestations of ‘grey zone’ FMR1 alleles, based on data from special needs population of schoolchildren in Tasmania.
• Gene-brain-behaviour investigations of attentional deficits in fragile X and Velo-Cardio-Facial Syndromes (collaboration with Dr S Crewther from this School, and Dr D Crewther from Brain Institute, Swinburne University).

Memberships and Associations

Member, Australasian Human Genetics Society
Member, Human Biology Society
Hon member of Croatian Anthropol Society
Am Assoc Advanc Sci.

Reviewer for:
Am J Med Genet, Am J Hum Genet, Am J Phys Anthrop, and others.

Recent and Current research grants
National Institutes of Health, USA (NIH);
NHMRC; Large ARC;
LTU Central Large Grant;
Apex Foundation.

Recent Publications

List of original research publications in refereed journals since 2000

Loesch DZ, Stokes, K & Huggins RM (2000). Secular trend in body height and weight of Australian children and adolescents. Am J Phys Anthrop 111:545-556.

Huggins RM, Hoang NH & Loesch DZ (2000). On the analysis of longitudinal data from twins. Genetic Epidemiol 19:345-353.

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):232-236.

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 95:307-315.

Huggins RM, Hoang NH & Loesch DZ (2000). On the analysis of longitudinal data from twins. Genet Epidemiol 19:345-353.

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, CCHeyde & RL Taylor). Springer Verlag, New York (pp.185-202).

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 107:136-142.

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) : 416-423.

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:127-134.

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): 646-57.fragile X status categories on 1

Loesch DZ, Huggins RM, Bui QM, Taylor AK, Pratt C, Epstein J, Hagerman RJ (2003). Effect of the fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis. Am J Med Genet 122A(1): 13-23.

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, 3:3-10.

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.

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.

Huggins RM, Loesch DZ (2004). Robust nonparametric estimation of genotype-phenotype relationships in human pedigrees. Aust N Z J Stat 46(4):601-613.

Qian G, Huggins RM, Loesch DZ (2004). Application of the Rasch model in categorical pedigree analysis using MCEM: I Binary data. Discussiones Mathematicae, Probability and Statistics 24:255-280.

Mitchell RJ, Holden JA, Cuiling Z, Curlis Y, Slater HR, Burgess T, Kirkby KC, Carmichael A, Heading KD, Loesch DZ (2005). FMR1 (fragile X) alleles in Tasmania: a screening study of the special educational needs (SEN) population. Clin Genet, 67:38-46.

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.

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.

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 (in press).

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 and Development (in press).

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 (in press).