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Dr Danuta Loesch-Mdzewska Senior Research Fellow, Psychology

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 onsetprogressive 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.

Positions

selected publications