Research Assistant

**Job no**: 513424

**Work type**: full time

**Location**: Sydney, NSW

**Categories**: Research Administration support
- **One of Australia’s leading research & teaching universities**:

- **Vibrant campus life with a strong sense of community & inclusion**:

- **Enjoy a career that makes a difference by collaborating & learning from the best**

**At UNSW, we pride ourselves on being a workplace where the best people come to do their best work.**

The School of Biotechnology & Biomolecular Science (BABS) teaches undergraduates, mentors postgraduate research students and conducts research in the disciplines of biotechnology, biochemistry, genetics, molecular biology, microbiology, environmental microbiology, medical microbiology and immunology.

The Research Assistant (Level 5) is expected to assist with the research effort of UNSW and to develop their research expertise through the pursuit of defined projects relevant to their particular field of research. This position is for a Research Assistant with wet lab experience. Additional experience in variant filtering would be ideal, but not essential.

The Research Assistant will undertake DNA, RNA and cell/tissue-based functional confirmation and therapy development work within the Medical Genomics Group and with other collaborators. The Research Assistant will also assist with bioinformatic analysis of human massively parallel sequencing data including genomic variant filtering using the tool _Seqr_. The work constitutes part of a project funded by the Medical Research Futures Fund to establish genetic diagnoses in a large cohort of genetically unresolved neuromuscular disease patients and to develop effective treatments for paediatric-onset genetic muscle disorders.

**About the role**
- **$78K - $88K** plus 17% Superannuation and annual leave loading
- Fixed Term - 3 years
- Full time (35 hours)

The role of Research Assistant reports to the Senior Lecturer and has no direct reports.

**Specific responsibilities for this role include**:

- Support collaborative research as a team member on functional investigation of genomic variants identified in cohort patients and on development of neuromuscular therapies with the overall goal of improving clinical and research outcomes in neuromuscular disease diagnostics and treatment.
- Assist with research under the supervision of Dr Oates, other project Chief Investigators and collaborating research leaders. Specific research tasks may include, but are not limited to:

- DNA sample preparation for whole genome sequencing;
- Filtering of genomic variants from human whole exome and/or whole genome sequencing data;
- Sample preparation for Sanger sequencing including primer design, PCR amplification and clean-up;
- RNA extraction from muscle in preparation for RNA-sequencing;
- Patient muscle RT-PCR and qRT-PCR analyses;
- Performing and troubleshooting western blotting;
- Patient muscle immunostaining and microscopy;
- Cell culture for functional validation of variants;
- Minigene splicing assays (minigene expression construct design, cloning and cell culture transfection);
- Molecular studies of transcriptional factor binding, including by chromatin immunoprecipitation;
- Assisting design of CRISPR-on gene induction strategies for upregulation of cell muscle gene expression
- Assisting in antisense oligonucleotide drug development work
- Support the dissemination of research outcomes by contributing to the preparation of project manuscripts and similar documents.
- Assist in conferences and/or workshops relevant to the project as required.
- Align with and actively demonstrate the UNSW Values in Action: Our Behaviours and the UNSW Code of Conduct.
- Cooperate with all health and safety policies and procedures of the university and take all reasonable care to ensure that your actions or omissions do not impact on the health and safety of yourself or others.

**About the successful applicant**
**(Selection Criteria)**

To be successful in this role you will have:

- A degree in a related discipline, including but not limited to Genetics, Molecular and Cell Biology, Microbiology, Biotechnology or Medical Science.
- Familiarity with a range of molecular biology techniques involving the manipulation of DNA, RNA, tissue and protein, including DNA and RNA extraction from cells and tissues, q/RT-PCR, Sanger sequencing, NGS sample preparation, western blotting, cell culture.
- Experience in some of the following specialised techniques would be ideal: muscle immunostaining and microscopy, minigene splicing assays, chromatin immunoprecipitation, CRISPR-on, antisense oligonucleotide drug development work.
- Experience in working with scarce/precious samples, ideally of clinical origin, would be highly advantageous.
- Experience in genomic variant filtering and analysis, particularly in a rare disease/clinical context, would be ideal but is not essential.
- Bioinformatic analysis and some programming skills would be highly a