Parkinson’s disease is a progressive neurodegenerative condition and the fastest growing neurodegenerative condition globally, leading to a high health burden as populations age. Currently, there are no disease-modifying therapies to slow its progression. In Australia, over 200,000 people are estimated to live with Parkinson’s disease, although this figure is likely an underestimate due to the ...
Parkinson's Australia
Defining genetic and environmental drivers of Parkinson’s disease in identical twins
GOAL
$15,000
Australia
Field of Interest
- Health/wellbeing and medical research
- Individual/family services and support
Target Population
- People with a disability, illness or disease
Parkinson's Australia
Parkinson’s Australia is the national advocacy body for people living with Parkinson’s, their families and carers, researchers and health professionals. We promote the best possible quality of life for people with Parkinson’s.
We advocate for the Parkinson’s community on issues of national significance. We work to reduce the impact of Parkinson’s by promoting best practice care to ensure that people can maximise their opportunities to live well and maintain their independence.
Project Summary
Parkinson’s disease is a progressive neurodegenerative condition and the fastest growing neurodegenerative condition globally, leading to a high health burden as populations age. Currently, there are no disease-modifying therapies to slow its progression. In Australia, over 200,000 people are estimated to live with Parkinson’s disease, although this figure is likely an underestimate due to the absence of tests that diagnose the disease accurately and early.
Parkinson’s disease encompasses a complex array of symptoms, which can vary widely between individuals. This complexity suggests that rather than being a single disease with one cause, Parkinson’s resembles a syndrome, a collection of symptoms with unclear origins or treatment paths. While the exact cause, or causes, remains elusive, it is believed to result from a complex interplay of genetic and environmental factors.
Approximately 10% of cases have a hereditary predisposition to Parkinson’s disease through certain genetic variations. However, not everyone with these variations will develop the disease. The triggers for its onset likely involve a combination of lifestyle, environmental factors, and other health issues.
Researchers in WEHI’s Parkinson’s Disease Research Centre have a unique opportunity to gain new insight into the possible disease triggers through the study of identical twins, one diagnosed with Parkinson’s disease 15 years ago at age 50, and the other still unaffected.
Following ethics approvals, this preliminary study will gather comprehensive lifestyle and medical history information, collect blood samples to analyse DNA differences, and obtain tissue samples to further investigate the cellular changes that occur with this debilitating disease.
Project Outcomes
Our research aims to deepen our understanding of the factors contributing to the onset of Parkinson's disease beyond genetic predisposition. To achieve this, we have the extraordinary opportunity to study a pair of identical twins—one diagnosed with Parkinson's and the other not.
During this initial phase of the project, we will develop a set of ethically approved health and lifestyle-related questions tailored for the twins. Upon receiving ethical approval, we will formally enrol the participants in our study. The study visit will be conducted by a qualified neurologist and an assisting nurse, and will include a medical assessment, administration of the study questions, and the collection of a blood sample and skin biopsy.
The blood sample will be utilised to isolate the twins' DNA, allowing us to perform a comprehensive genetic analysis. This analysis will confirm not only the identical genetic identity of the twins but also identify any Parkinson’s-related gene mutations they may have. The skin biopsy will be used to generate stem cells from which we can generate neurons, enabling us to investigate the cellular differences between the twins in great detail.
The insights gained from this foundational study will position us to seek further funding for an in-depth analysis and extended study of the twins, to take full advantage of this very rare opportunity.
Budget Breakdown
TOTAL BUDGET: $15,000
EXPENSES
| Expense item | Amount |
|---|---|
| Ethics approval | $3,000 |
| Participant recruitment process and sample collection | $2,000 |
| DNA sequencing and analysis | $6,000 |
| Establishment of stem cells and neurons | $4,000 |
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