I am a geneticist using multidisciplinary genetic and genomic approaches to study transcriptional mechanisms and molecular pathogenesis in autoimmunity and haematological malignancies.
The Impact Of The Changes In Levels Of Adhesion Molecules NCAM2 And DsCAM On Synapse Formation And Function: Implications For Down Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$334,053.00
Summary
Down syndrome (DS) results from triplication of chromosome 21 and leads to mental retardation, molecular mechanisms of which are not understood. We found that two proteins, NCAM2 and DSCAM, encoded at chromosome 21 are highly expressed in synapses. Synapses are specialized contacts between neurons which allow neurons to process information in the brain. In this project we will test a hypothesis that changes in NCAM2 and DSCAM expression result in synapse abnormalities observed in DS.
Precision Molecular Diagnostics Of Single Cells By Imaging Flow Cytometry
Funder
National Health and Medical Research Council
Funding Amount
$875,110.00
Summary
We have invented a highly sensitive, new method to count and evaluate chromosomes inside cancer cells. With this world-first method we can detect abnormal chromosomes when fewer than 1 cell in 1,000 is affected. We will refine the method for assessment of blood cancers and chromosome disorders such as trisomy 21 (Down Syndrome), and commence pre-clinical testing. This is a critical step towards translating this methodology into a validated test to significantly benefit human health.
Down syndrome (DS) individuals have 3 copies of chromosome 21. I am proposing to do my PhD to investigate the role of a gene existing on chromosome 21 called Intersectin 1. This gene, when over-expressed might be responsible for manifestation of intellectual impairment in Down syndrome. I will be examining the consequence of altered/over-expression of this gene in receptor trafficking, cell signalling and histology of the brain to identify the differences between affected individuals and the nor ....Down syndrome (DS) individuals have 3 copies of chromosome 21. I am proposing to do my PhD to investigate the role of a gene existing on chromosome 21 called Intersectin 1. This gene, when over-expressed might be responsible for manifestation of intellectual impairment in Down syndrome. I will be examining the consequence of altered/over-expression of this gene in receptor trafficking, cell signalling and histology of the brain to identify the differences between affected individuals and the normal population.Read moreRead less
How The Dosage Of A Down Syndrome Candidate Gene Affects Neural Circuitry And Behaviour
Funder
National Health and Medical Research Council
Funding Amount
$414,961.00
Summary
In Down syndrome, an extra copy of chromosome 21 increases gene expression and leads to brain defects. We hypothesise that one candidate gene, Dscam2, changes its function with increased expression. This causes brain cells that normally stick to each other to repel each other, leading to inappropriate connections in the brain. We will test this model in the fruit fly and demonstrate for the first time a mechanism dependent on gene expression that can lead to brain abnormalities in Down syndrome.