Description
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
https:// about.unimelb.edu.au/careers/selection-criteria
Should you require any reasonable adjustments with the recruitment process,
please contact the Talent Acquisition team at hr-talent@unimelb.edu.au.
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/
Advertised: 11 May 2022 12:05 AM AUS Eastern Standard Time
Applications close: 08 Jun 2022 11:55 PM AUS Eastern Standard Time
