Cracking the genetic code of familial Parkinson’s disease

This project is for PhD students only.  A background in (or a strong interest and passion to learn about) genetics, epidemiology, data science, statistics or bioinformatics is preferred. Previous research experience and coding and analysing data (genetic, clinical, or other kind) using R/Python is also desirable.

BACKGROUND

Parkinson’s disease (PD) affects ~150,000 Australians, and the number of patients worldwide was estimated to be at least 6.1 million in 2016. In Australia, PD is the second most common neurological disorder, the second most common cause of dementia, and the fastest growing neurodegenerative disease, with approximately 32 newly diagnosed patients every day.

PD is a progressive condition, typically defined by its motor features, which are also accompanied by a range of non-motor symptoms. The onset, intensity and progression of these clinical features varies greatly from patient to patient and the underlying mechanisms of such heterogeneity are largely unknown, although it is increasingly evident that genetics play an important role.

The Australian Parkinson’s Genetics Study (APGS) is the largest study of its kind in Australia and one of the largest in the world. We have collected genetic data and patient-reported information on a range of sociodemographic, clinical and lifestyle variables from thousands of people with PD from across the country.

Our team, together with collaborators across Australia, was recently awarded >2.95M in funding from the Medical Research Future Fund, to increase the rates of genetic testing and genetic diagnosis of people with monogenic or familial Parkinson’s forms.

AIM

This PhD project offers an extraordinary opportunity to discover new genes and new genetic variants in known genes implicated in PD, by analysing whole-genome sequencing data and clinical data.

APPROACH

The student will conduct computational and statistical analyses to identify causal genes and mutations responsible for familial PD.

OUTCOME

The characterization of risk and protective factors may provide important insights into the pathological mechanisms of PD development throughout the lifespan, which is the first step toward developing preventative and therapeutic interventions, including disease-modifying therapies.