PhD Opportunity - Mosaicism

Job no: 0055903
Location: Hospital Based
Role type: Full time; Fixed-term 
Faculty: Faculty of Medicine, Dentistry and Health Sciences
Department/School: Department of Medicine, Austin Health
Salary: PhD stipend - $32,400 p.a.

Founded in 1853, the University of Melbourne is Australia’s #1 university and is consistently ranked amongst the leading universities in the world. We are proud of our people, our commitment to research and teaching excellence, and our global engagement.

About the Faculty of Medicine, Dentistry and Health Sciences

The Faculty of Medicine, Dentistry & Health Sciences has an enviable research record and is the University of Melbourne’s largest faculty in terms of management of financial resources, employment of academic and professional staff, teaching of undergraduate and postgraduate (including research higher degree) students and the conduct of basic and applied research. The Faculty’s 2013 gross revenue was in excess of $550M. Approximately 40% of this income relates to research activities.

About the Role

In this project the PhD candidate will explore pathogenic variants present in only a fraction of brain cells (mosaicism) of patients with focal epilepsies. These mosaic variants are sufficient to disrupt neuronal development and lead to focal epilepsy. To better understand the genetics of focal epilepsies the student will take advantage of existing resected brain tissue from patients undergoing epilepsy surgery. The candidate will implement novel, minimally invasive sampling approaches to identify brain mosaicism in the absence of resected tissue. These methods are significant because most patients with focal epilepsies are not candidates for epilepsy surgery. This project will have the funding support of a current MRFF Genomics Health Futures Mission and NHMRC Ideas grants. 

The PhD student will be supported by an expert team to achieve the following research objectives:

• To analyse existing high depth exome sequencing data from brain tissue of unsolved patients in a epilepsy surgery cohort for mosaic variant detection and gene discovery
• To optimise cerebrospinal fluid (CSF) liquid biopsy for clinical implementation to detect mosaic variants and provide genetic diagnosis
• To explore new methods for amplifying mosaic variants in trace brain tissue from Stereo-electroencephalography (Stereo-EEG) depth electrodes of patients with focal epilepsies
• To develop the first clinical recommendations for interpreting mosaic variants in focal epilepsies with potential relevance to other neurological disorders

About You

You will have well-developed interpersonal skills including demonstrated capacity to work as both a team member and independently, and excellence in written and oral communication. You will have excellent organisational skills and the ability to undertake a range of tasks concurrently and further have excellent communication skills and a demonstrated ability to present oral summaries of research to various audiences. Vocation, study, interest or background in neuroscience, genetics or molecular biology, particularly genetic diseases is desirable but not essential. 

Ideally, you will further have:

• BSc (Hons) or Masters or equivalent in biological sciences, biomedical sciences, mathematics, statistics, computer science or a similar quantitative field
• A demonstrated record of achievement in research, evidenced by coursework or publications arising Honours, Masters or other research positions
• You need to be comfortable with, and have the ability to work on samples and data from human subjects
• Applicants are required to meet the University of Melbourne’s requirements for a Research Higher Degree candidature. Please refer to: https://study.unimelb.edu.au/how-to-apply/graduate-research/domestic-applications/entry-requirements

Be Yourself

At UoM, we value the unique backgrounds, experiences and contributions that each person brings to our community, and we encourage and celebrate diversity. Indigenous Australians, those identifying as LGBTQIA+, females, people of all ages, with disabilities or culturally diverse backgrounds are encouraged to apply for our roles. Our aim is to create a workforce that reflects the community in which we live.

Join Us!

If you feel this role is right for you, please submit your application including a brief cover letter, your resume and your responses against the selection criteria^ (found in the Position Description) for the role.

^For information to help you with compiling short statements to answer the selection criteria and competencies, please go to http://about.unimelb.edu.au/careers/selection-criteria

Should you require any reasonable adjustments with the recruitment process, please contact the Talent Acquisition team at [email protected] .

Due to the impacts of COVID-19, we are currently prioritising applications with current valid working rights in Australia and candidates who are not affected by travel restrictions. Please see the latest updates to Australia's immigration and border arrangements: https://covid19.homeaffairs.gov.au/

Position Description