Assoc Prof John Kwok

TEAM LEADER PROFILE

NHMRC RD Wright Fellow, NeuRA

+612 9399 1837


Assoc Prof Kwok completed a PhD on human genetics at the University of Cambridge, England in 1994. After returning to Australia, he was awarded the Australian Postdoctoral fellowship in Dementia Research in 1995. During this time, he consolidated preliminary mutations screens to better understand the relationship between specific mutations in dementia genes and observed clinical presentation and neuropathology of the disease. In 2002, he was awarded an R Douglas Wright Biomedical Career Development Award (NHMRC) to work on the biochemistry and genetics of hereditary dementias.

Projects Assoc Prof John Kwok is currently involved with

CURRENT PROJECTS

Koori Growing Old Well Study

The primary aim of a proposed longitudinal study is to find the reasons for the high dementia rates (three times non-Indigenous rates) in urban/regional Aboriginal people.

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Koori Growing Old Well Study

Positional cloning of a chromosome 16 dementia / motor neurone disease gene

The aims of this project are to undertake the biological characterisation of this novel neurodegeneration gene. We are also examining a panel of commercially available and clinically relevant agonists and antagonists to modulate key pathways involved in Alzheimer's disease and other neurodegenerative disorders.

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Positional cloning of a chromosome 16 dementia / motor neurone disease gene

Role of the glycogen synthase kinase-3 (GSK3B) and microtubule associated protein Tau (MAPT) genes in neurodegeneration

Both GSK3B and MAPT genes control crucial processes in the cell. We have shown that genetic polymorphisms in these two genes interact to increase risk for late-onset, idiopathic neurodegeneration. We aim to discover whether the two genes will have an effect in other diseases and to determine the biological mechanisms in the genes act to increase disease risk.

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Role of the glycogen synthase kinase-3 (GSK3B) and microtubule associated protein Tau (MAPT) genes in neurodegeneration

RESEARCH TEAM

Marianne Hallupp

MARIANNE HALLUPP Research Assistant

Jessica Lazarus

JESSICA LAZARUS PhD student

PUBLICATIONS

Progression in Behavioral Variant Frontotemporal Dementia: A Longitudinal Study.

Devenney E, Bartley L, Hoon C, O'Callaghan C, Kumfor F, Hornberger M, Kwok JB, Halliday GM, Kiernan MC, Piguet O, Hodges JR

To observe longitudinal outcomes and progression in probable and possible BVFTD in accordance with international diagnostic criteria and to identify features that may aid clinicians to prognosticate better in cases of possible BVFTD. Behavioral variant FTD shows variable progression over time. Clinicians can use a detailed neurologic and cognitive assessment to identify key predictive features of progression when faced with possible BVFTD, whereas a diagnosis of probable BVFTD is accurate in a clinical setting.

Clinical heterogeneity of the C9orf72 genetic mutation in frontotemporal dementia.

Devenney E, Foxe D, Dobson-Stone C, Kwok JB, Kiernan MC, Hodges JR

The C9orf72 genetic mutation represents the most common cause of familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Studies over the last 2 years have revealed a number of key features of this mutation in the fields of clinical neurology, imaging, pathology, and genetics. Despite these efforts, the clinical phenotype appears to extend beyond FTD and ALS into the realm of psychiatric disease, and while highly variable survival rates have been reported, the clinical course of carriers remains relatively unexplored. This report describes two contrasting C9orf72 cases, one with a protracted indolent course dominated by neuropsychiatric features and the other with a rapidly progressive dementia. In both cases, initial structural brain imaging was relatively normal.

DNA methylation in the apolipoprotein-A1 gene is associated with episodic memory performance in healthy older individuals.

Lazarus J, Mather KA, Armstrong NJ, Song F, Poljak A, Thalamuthu A, Lee T, Kochan NA, Brodaty H, Wright MJ, Ames D, Sachdev PS, Kwok JB

To estimate the heritability of plasma ApoA1 protein levels; to examine DNA methylation variation within the APOA1 gene; and to investigate whether APOA1 methylation is associated with plasma ApoA1 levels and episodic memory performance. Findings demonstrated that epigenetic control of APOA1 expression and DNA methylation levels are associated with episodic memory performance in older adults.

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