NeuRA Magazine #21


Bipolar disorder is a severe and debilitating psychiatric condition, for which the specific causes remain largely obscure. The disorder is ranked in the top 20 most disabling disorders, and leads to severe social impacts, increased suicide risk, and poor general medical health for the approximately 250,000 Australians affected. In Australia alone, the financial costs to government and societal sectors exceed $3.3 billion per annum.

Dr Jan Fullerton and her team at NeuRA are conducting a number of studies to understand the biological basis of bipolar, to identify genetic signatures which may predict response or non-response to pharmaceutical treatments, and to determine whether future risk of bipolar can be predicted in young people who are at increased genetic risk.


Finding genes which contribute to bipolar disorder

Using large scale “next-generation” DNA sequencing, Jan’ team is identifying and characterising rare DNA variants in the genomes of people with bipolar. The objective is to find that genes expressed in the synapse, the molecular communication system between neurons, which are enriched for damaging rare DNA variants in people with this condition. Together with collaborators at the Garvan Institute, the team is relating rare DNA variants to functional changes in the way genes are expressed using RNA-sequencing. Working with international collaborators, the team are also conducting studies to identify genes carrying common DNA variants which increase an individuals’ risk of bipolar. These studies are elucidating the genetic architecture of bipolar, and have identified several new risk genes, as well as providing additional support to the involvement of genes previously identified.


Predicting treatment response

Lithium is the most commonly prescribed mood stabilising drug used for the treatment for bipolar. However, the drug only works effectively in about a third of patients, and we currently cannot predict which patients are likely to respond. As part of the International Consortium on Lithium Genetics, we are actively pursuing the identification of genetic signatures which will facilitate targeted pharmaceutical therapies, enabling faster and improved medication response.

See what’s going on at NeuRA


During three decades on Australian television, two simple words brought us to attention.

‘Hello daaaahling’. Outrageous, flamboyant, iconic – Jeanne Little captivated Australians everywhere with her unique style, cockatoo shrill voice and fashion sense. "Mum wasn't just the life of the party, she was the party.” Katie Little, Jeanne’s daughter remembers. This icon of Australian television brought a smile into Australian homes. Tragically, today Jeanne can't walk, talk or feed herself. She doesn't recognise anyone, with a random sound or laugh the only glimpse of who she truly is. Jeanne Little has Alzheimer's disease. The 1,000 Brains Study NeuRA is very excited to announce the 1,000 Brains Study, a ground-breaking research project to identify the elements in our brains that cause life-changing neurodegenerative diseases like Alzheimer’s, Parkinson’s and other dementias. This study will focus on the key unresolved question: why do some of us develop devastating neurodegenerative diseases, while others retain good brain health? The study will compare the genomes of people who have reached old age with healthy brains against the genomes of those who have died from neurodegenerative diseases, with post mortem examination of brain tissue taking place at NeuRA’s Sydney Brain Bank. More information on the study can be found here. Will you please support dementia research and the 1,000 Brains Study and help drive the future of genetics research in Australia?