Kwok Group banner

Kwok Group - Assoc Professor John Kwok

Our genes play an important role in whether we develop neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease. Our research aims are to identify causative and susceptibility neurodegenerative genes and furthermore, to understand the mechanisms by which genetic alterations in these genes can lead to disease.

NHMRC RD Wright Fellow, NeuRA
T: +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.

Positional Cloning of a Chromosome 9 Dementia/Motor Neurone disease Gene

We have identified a large pedigree with clinical symptoms of presenile dementia with motor neuron disease.

Positional Cloning of a Splicing Factor on Chromosome 15 that modulates splicing of key dementia Genes

Alzheimer's disease and Parkinson's disease are the two common causes of dementia and neurodegeneration.

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.

Research team 
Dr John Kwok's picture
Assoc Professor John Kwok
NHMRC RD Wright Fellow, NeuRA
T: +612 9399 1837
Dr Carol Dobson-Stone's picture
Dr Carol Dobson-Stone
Senior Research Officer
Conjoint Senior Lecturer, School of Medical Sciences, UNSW
T: +612 9399 1835
Ms Marianne Hallupp's picture
Marianne Hallupp
Research Assistant
T: +612 9399 1845
Kirsten Coupland's picture
Kirsten Coupland
PhD Student
T: +612 9399 1845

Latest publications

Loy CT, Krill JJ, Kiernan MC, Kwok JB, Vucic S, Halliday GM, Hodges JR. (2010). The case of a 48 year-old woman with bizarre and complex delusions Nat Rev Neurol 6(3):175-9.

BACKGROUND: A 48 year-old woman presented with an 18 month history of bizarre and complex delusions on a background of social, behavioral and cognitive decline over several years.

Van Deerlin VM, Sleiman PM, Martinez-Lage M, et al. (2010). Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions Nat Genet 42(3):234-9.

Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia. The predominant neuropathology is FTLD with TAR DNA-binding protein (TDP-43) inclusions (FTLD-TDP).

Kwok JB, Loy CT, Hamilton G, Lau E, Hallupp M, Williams J, Owen MJ, Broe GA, Tang N, Lam L, Powell JF, Lovestone S, Schofield PR. (2009). Glycogen synthase kinase-3beta and tau genes interact in Alzheimer's disease Ann Neurol 65(6):759-61.

OBJECTIVE: We examined the epistatic effect between haplotypes of glycogen synthase kinase-3beta (GSK3B) gene and microtubule-associated protein Tau (MAPT) gene in Alzheimer's disease (AD).