Research Assistant

The Molecular Genetics of Inherited Kidney Disorders Lab is focused on improving care in genetic kidney disease through increasing genomic diagnosis for families and building understanding of disease mechanisms. The laboratory has an established disease-focus in Autosomal Dominant Polycystic Kidney Disease, the most common single-gene cause of kidney failure. The laboratory has pioneered genomic diagnostics in this condition in Australia and leads efforts in studying undiagnosed families. The laboratory is a lead site in collaborative national kidney genomic studies that span from clinical genomic cohort studies to novel gene discovery.

THE OPPORTUNITY

The Research Assistant is accountable for supporting the research objectives of the Molecular Genetics of Inherited Kidney Disorders Laboratory. This role will include contributing across a number of different projects including genomic cohort studies and mechanistic laboratory experiments. The Research Assistant will contribute to genomic cohort studies, including variant curation and genomic data processing. There is also opportunity for contribution to wet-lab experiments focused on understanding disease mechanisms or investigating pathogenicity of specific rare variants identified in our patient cohorts. Appointment up to Research Assistant Level 6 (RA6) will be considered depending on skills and experience.

**Salary**: Up to $99,000 + 14% superannuation + salary packaging (depending on experience)
- Employment Type: 3-year fixed-term contract

SNAPSHOT OF BENEFITSGenerous salary packaging to save you income tax on your wages thereby boosting your monthly take home pay (max. $15,900 general expenses + $2,650 meals/accom)- Ample opportunities for on-going training and development- Stimulating, diverse and highly international research environment- Flexible work arrangements e.g. start / finish times- 18 weeks paid parental leave for both parents including paid superannuation- A range of additional leave types to meet your personal needs including cultural leave, conference leave, community service and study leave- Discounted Health Insurance- Lifestyle discounts with our community partners

WHAT YOU WILL DO

ESSENTIAL DUTIES AND RESPONSIBILITIES

The key responsibilities include:
Variant curation, including assessment of novel variant mechanisms and new gene disease associations- Genomic data processing (short and long read sequencing data)- Working with local and national collaborators on genomic data processing- Genomic Data management- Assist in interpreting results and troubleshooting experimental issues.- Regular attendance and contributions to internal and external meetings.- General lab operations including ordering consumables and equipment maintenance.

ABOUT YOU

KNOWLEDGE, SKILLS AND QUALIFICATIONS REQUIRED

The key skills and experience include:
A Bachelor's Degree in a scientific discipline, with First Class Honours or equivalent.- 2 or more years of formal laboratory experience in molecular biology- Experience with clinical genomics research, including genomic data processing and variant curation- Rigour, attention to detail, problem-solving skills and a results-oriented approach- Autonomous, organised, and self-motivated, with an ability to learn quickly and work independently.- Strong verbal and written communication skills, with a demonstrated ability to effectively document and record-keep, present work internally and externally, and contribute to academic and technical documents.- Highly collaborative, with the ability to work in a team environment

Desired:
- Hands-on experience with DNA/RNA extractions, library preparation, construct design and cloning, functional genomic assays, RNA studies and cell-culture experiments- Experience in processing and secure biobanking of clinical samples- Experience in kidney genetics and familiarity with clinical phenotypes and genetic test interpretation- Experience with single-cell genomics assays- Experience with RNAseq analysis and interpretation

ABOUT GARVAN

Garvan Institute of Medical Research is an independent Medical Research Institute (MRI) in Sydney, delivering scientific and clinical impact on a global basis and in partnership with organisations that share our vision. We are proud to be one of Australia’s largest and most highly regarded MRI’s.

Our vision is global leadership in discoveries to impact and our enduring purpose is to impact human health, by harnessing information encoded in our genome.

We seek to see our world-class discovery research achieve life-changing impacts, not only for individual patients with rare diseases, but for the many thousands affected by complex, common disease.
- Garvan promotes a diverse workplace and is committed to the principles of equity, diversity, inclusion and belonging. We are always looking for culture ‘add_’,_ not culture ‘fit’ and are building diverse teams with great sets of complementary styles and skills to help deliver our important wor