Genetic causes of novel neurodevelopmental disorders

Overview

The Rare Disorder Genetics / Bicknell lab is interested in characterising novel genetic syndromes, with three core motivations:

• The difference we can make to families with rare disorders, through providing them with more information
• The awesome power of genetic alterations to impact development and functioning
• The insight we can gain into organism biology, through a Mendelian variant perspective

We harness exome and genome sequencing to study a variety of disorders, with a focus on how our brains and bodies grow. We undertake research using samples mainly from New Zealand families, but we also get samples from our international collaborations.

We get particularly excited studying the fundamental aspects of cell functioning and their role in disease, and have a current focus on DNA replication, splicing, chromatin remodelling and RNA -binding proteins.

This project will seek to understand the molecular mechanisms of genes underlying Mendelian disorders. The lab work will be varied, but will make use of specialist assays based on the gene under study, including FACS analysis, microscopy and sequencing technologies.

In parallel, there will be a bioinformatics component to the project, as we seek to continually improve our analytical and filtering pipeline to maximise our variant detection and therefore genetic diagnosis for families. You would be supported with expert help, but there is an expectation of basic computational skills to be able to start this part of the project strongly.

Principal Investigator

Associate Professor Louise Bicknell.

I have a very strong track record in human disease genetics, and am well-supported for our research with funding and collaborations. My passion and enthusiasm for our research underpins a fantastic, closely-knit team of researchers and we are proud to generate exciting, robust results that have a positive impact on families. We value strong communication, collegiality and inclusivity in our lab.

Students are encouraged to develop their own niche to their project – supporting career development while undertaking excellent science.

The successful candidate will have obtained a BSc(Hons) or MSc with strong academic excellence and lab research experience. Knowledge of the following areas would be desirable: genetics, molecular biology and bioinformatics, however personal attributes are just as important as the right skillset.

The prospective candidate will need to obtain a University of Otago PhD scholarship (which are highly competitive – minimum GPA 8 out of 9). Associate Professor Bicknell will provide significant support with this application.

For international students, multiple publications are likely to be required for a strong scholarship application. Please apply to Associate Professor Bicknell with your CV (including three references), the transcripts for academic qualifications and a cover letter outlining your interest and career goals, relevant to this project and joining the Rare Disorder Genetics lab.