About

The international Genetics of Bipolar Disorder Study is hoping to recruit 100,000 participants, with Australian researchers hoping to contribute 10 per cent of the overall study population.

Identification of the genes that predispose individuals to bipolar disorder will revolutionise future research into causes, treatment and prevention of the illness.

Many international studies to date have explored an individual’s genetic predisposition to bipolar disorder. However, only a handful of the specific predisposing genes have been identified, and there are many more to be found.

Study researchers will analyse DNA from saliva samples to identify specific genes associated with bipolar disorder.

Before analysis can begin, DNA is extracted from the saliva sample and genotyped to provide a read out of each participant’s genetic code. The analysis process, known as a ‘genome-wide association scan’ (GWAS), involves comparing the genotypes of people who have experienced bipolar disorder to the genotype of those who have never experienced the disorder.

The study will allow the researchers to identify genetic factors that determine why some people experience bipolar disorder, while others do not, why some people living with bipolar disorder respond to certain treatments, while others do not, and why some people experience side-effects, while others do not. This knowledge will be used to improve existing treatments and to develop new treatments for bipolar disorder.

Participation in the study is free and simple – volunteers complete a 20-minute online survey and those who qualify will be asked to donate a saliva sample.

QIMR Berghofer Medical Research Institute (QIMR Berghofer) is the base for the Australian arm of the international collaboration, with collaborating centres throughout North America, Europe and Asia.

Professor Sarah Medland, Head of the Psychiatric Genetics group, QIMR Berghofer, Brisbane, is the Lead Investigator for the Australian Genetics of Bipolar Study.

Professor Nick Martin, Head of the Genetic Epidemiology group at QIMR Berghofer, and Professor Ian Hickie AM, Co-Director for Health and Policy, Brain and Mind Centre, The University of Sydney, are study Co-Investigators.

Participating in this study could make a genuine contribution to solving bipolar disorder.¹

Study participation involves:

• Reading and understanding an online study information sheet;
• Providing consent for collection of data for current and future study purposes;
• Providing contact information; and
• Completing a 20-minute long online survey.

After completing the online survey, participants may be asked to donate a saliva sample, from which researchers can extract their DNA to identify specific genes associated with bipolar disorder.

Researchers will send a saliva collection kit together with a pre-paid return envelope to selected participants.

QIMR Berghofer will store DNA from saliva samples for immediate and future genetic analysis.

Study participation is strictly confidential. All patient information provided will be maintained in accordance with the Commonwealth Privacy Act (1988) and National Health and Medical Research Council (NHMRC) Guidelines.

Permission will be sought from participants for access to some of their Medicare and Pharmaceutical Benefits Scheme (PBS) history (although this consent is not critical to participation).

QIMR Berghofer is a world-leading translational research institute specialising in cancer, infectious diseases, mental health and a range of chronic disorders. Working in close collaboration with clinicians and other research institutes, QIMR Berghofer aims to improve health by developing new diagnostics, better treatments and prevention strategies.² To learn more, head to www.qimrberghofer.edu.au

QIMR Berghofer Medical Research Institute recognises the National Health and Medical Research Council (NHMRC) for its involvement in coordinating this research study.

QIMR Berghofer Medical Research marks its 73rd anniversary this year (2018), and is now known as one of the largest and most successful medical research institutes in Australia, specialising in cancer research, infectious diseases, mental health and chronic disorders. Today the Institute houses more than 50 laboratories and its own 40-bed clinical trials facility – Q-Pharm.²

The Institute is home to more than 800 researchers, students and support staff, who work collaboratively towards new diagnostic, prevention and treatment strategies. They are housed in three state-of-the-art buildings in the heart of the Herston Health Precinct, and are located on the same campus as Queensland’s largest teaching hospital – the Royal Brisbane and Women’s Hospital. QIMR Berghofer Medical Research Institute is also a partner in the Herston Imaging Research Facility.²

QIMR Berghofer Medical Research Institute’s priorities are to:

• Translate scientific findings into new diagnostic tools, treatments and prevention methods;
• Collaborate with researchers, locally and internationally, to improve health outcomes; and
• Support and develop staff and provide funding stability for scientists.²

QIMR Berghofer's mental health program

QIMR Berghofer Medical Research Institute is a partner in the Queensland Mental Health Research Alliance.¹¹

The QIMR Berghofer Mental Health Program researches burdensome diseases, ranging from bipolar disorder and clinical depression, to schizophrenia and dementia.¹¹

QIMR Berghofer uses brain imaging, computational modelling, epidemiological studies and gene-sequencing technologies to provide unprecedented insights into the biology of cells, animals and humans, and the genetic basis for a number of conditions.¹¹

The diverse program includes research into diagnostic tests for bipolar disorder, clinical depression, dementia and schizophrenia, as well as Australia’s largest study of asthma genetics.¹¹

New molecular techniques have enabled QIMR Berghofer to undertake the Australian Genetics of Bipolar Disorder Study. Study researchers are currently working to recruit a total of 5,000 Australian adults who have been treated for bipolar disorder, to contribute to a 100,000- strong global research program designed to investigate which genes influence the risk of bipolar disorder and the effectiveness of bipolar disorder medication.

In the interim, they will also strive to heighten public awareness and understanding of mental illness.¹¹

Approximately one-in-50 Australians (1.8 per cent) will experience bipolar disorder during their lifetime.³

Bipolar disorder is a chronic mental health condition which results in strong changes in mood and energy levels. It is a complex disorder that occurs commonly within families, and typically results from a combination of genetic and environmental influences.³

People living with bipolar disorder may also have a higher risk of additional health issues, including alcohol and drug abuse, anxiety, cardiovascular disease, diabetes, obesity, and suicide.³

People with bipolar disorder are at 15-times greater risk of suicide than the general population, accounting for up to 25 per cent of all suicides.³

People with bipolar disorder (sometimes called “manic depression”) can have depressive, and manic or hypomanic episodes, that can last a week or more, affecting their thoughts and behaviour.³

Bipolar disorder requires long-term management and can severely affect an individual’s ability to function in their daily lives.³

Bipolar disorder is the 9th leading contributor to the burden of disease and injury in Australia among females aged 15-24 years, and the 10th leading contributor for males of the same age.⁴

Australian research has shown that from the average age of symptom onset (17.5 years), there was a delay of approximately 12.5 years before a diagnosis of bipolar disorder was made.⁵

Causes & risk factors for bipolar disorder⁶

While the exact causes of bipolar disorder are unknown, factors believed to play a role in the development of bipolar disorder, and its onset include:

• Genetic factors, which account for approximately 70 per cent of the risk;
• Abnormal neurotransmitter chemistry in the brain;
• Environmental factors, including stressful life events and seasonal factors;
• Certain medications and certain illicit substances.

There are different types of bipolar disorder, including:²

• Bipolar I disorder: At least one manic episode required for diagnosis. Major depressive episodes are typical, but not necessary for diagnosis. Bipolar I affects men and women equally. Bipolar I is defined by manic episodes that last at least seven days, or by manic symptoms that are so severe that the person requires immediate hospital care.⁷
• Bipolar II disorder: At least one hypomanic (highs and lows that are less extreme than mania⁹) episode and one major depressive episode required for diagnosis. There is no instance of a manic episode. Bipolar II is more common in women.⁷
• Cyclothymic disorder: A milder form of bipolar disorder in which moods are not as extreme.⁷ People with cyclothymic disorder experience chronic fluctuations in their mood over at least a two-year period. Cyclothymic disorder is characterised by hypomania (mild-to-moderate mania) and periods of depressive symptoms, with very short periods (no more than two months) of normality in between. The duration of the depressive symptoms are shorter, less severe and not as regular as bipolar disorder.^3,8
• Other specified and unspecified bipolar and related disorder: The mood changes experienced by people with bipolar disorder differ from one person to the next. This diagnosis is defined by bipolar disorder symptoms that do not correlate with any of the three categories listed above.^8,9

Warning signs of bipolar disorder include:

Depressive episodes:³

• Feelings of sadness or hopelessness
• Loss of interest in usually pleasurable activities
• Withdrawal from family and friends
• Sleep problems (often excessive sleep)
• Loss of energy, feeling exhausted
• Physical slowing
• Low self-esteem
• Feelings of guilt
• Problems concentrating
• Suicidal thoughts.

Manic episodes:³

• Feeling incredibly ‘high’ or euphoric
• Delusions of self-importance
• High levels of creativity, energy and activity
• Getting much less sleep or no sleep
• Poor appetite and weight loss
• Racing thoughts, racing speech, talking over people
• Highly irritable, impatient or aggressive
• Inappropriate sexual activity or risk taking
• Dressing more colourfully and being less inhibited
• Impulsiveness and making poor choices in spending or business
• Grand and unrealistic plans
• Poor concentration, easily distracted
• Delusions, hallucinations.

Bipolar disorder usually requires a long-term treatment plan often involving medication, as well as psychological treatment and lifestyle approaches.¹⁰

Bipolar disorder can be difficult to diagnose, because:³

• Disease onset is often marked by a depressive period, and can be misdiagnosed as clinical depression.
• Depressive symptoms are common in bipolar disorder – usually more prevalent than hypomania or manic symptoms.
• ‘Mixed mood’ episodes are common. These might obscure detection of mania and hypomania, as people report more depressive symptoms when seeking treatment.

Treatment of bipolar disorder may involve two types of management; acute management and long-term management¹⁰

• Acute management aims to stabilise someone during a manic or depressive episode. Medications may include mood stabilisers and antipsychotics. Electroconvulsive therapy (ECT) may also be used when treatment is not effective, and in those experiencing depression with psychotic features¹⁰
• Long-term management involves maintenance and prevention of relapse, which may include medications such as mood stabilisers, anti-depressants and antipsychotics, together with counselling, cognitive behavioural therapy (CBT) and wellbeing plans.¹⁰

Health professionals who treat people living with bipolar disorder include GPs, psychiatrists, psychologists, mental health nurses, mental health social workers, and counsellors.

1. Ezkurdia, I., Juan, D., et al. (2014). Multiple evidence strands suggest that there may be as few as 19,000 human protein-coding genes. Human Molecular Genetics, 23(22), pp.5866-5878.

2. QIMR Berghofer Medical Research Institute. Available at http://www.qimrberghofer.edu.au [last accessed, July, 2018].

3. Black Dog Institute. Clinical Resources; Bipolar Disorder; What is Bipolar Disorder. Available at: https://blackdoginstitute.org.au/clinical-resources/bipolar-disorder/what-is-bipolar-disorder [last accessed July, 2018].

4. Australian Institute of Health and Welfare 2011. Young Australians: their health and wellbeing 2011. Cat. no. PHE 140 Canberra: AIHW.

5. Berk, M., Dodd, S., Callaly, P., Berk, L., Fitzgerald, P., de Castella, A.R., & Kulkarni, J. (2007). History of illness prior to a diagnosis of bipolar disorder or schizoaffective disorder. Journal of Affective Disorders, 103(1-3), 181-186.

6. Black Dog Institute. Clinical Resources; Bipolar Disorder; Causes. Available at: https://blackdoginstitute.org.au/clinical-resources/bipolar-disorder/causes [last accessed July, 2018].

7. Beyond Blue. The Facts: Bipolar Disorder. Available at: https://www.beyondblue.org.au/the-facts/bipolar-disorder [last accessed July, 2018].

8. National Institute of Mental Health (NIH). Bipolar Disorder. Available at: https://www.nimh.nih.gov/health/topics/bipolar-disorder/index.shtml [last accessed, July 2018].

9. ReachOut.com. What is bipolar disorder? Available at: https://au.reachout.com/articles/what-is-bipolar-disorder [last accessed June 12, 2018].

10. Black Dog Institute. Clinical Resources; Bipolar Disorder; Treatment. Available at: https://www.blackdoginstitute.org.au/clinical-resources/bipolar-disorder/treatment [last accessed July, 2018].

11. QIMR Berghofer Medical Research Institute. Mental Health Program. Available at http://www.qimrberghofer.edu.au/our-research/diseases-and-conditions/mental-health/ [last accessed July, 2018].