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Genetic and molecular mechanisms of developmental syndromes


Department of Pathology

Applications accepted all year round Competition Funded PhD Project (Students Worldwide)

About the Project

The 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 mutation lens

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 receive samples or data 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 the centrosome.

We use a variety of reporter and stem cell models to investigate pathophysiological mechanisms and understand cell biology, with local colleagues available to utilise animal models where appropriate.

This project will seek to understand the developmental and molecular mechanisms of a novel gene underlying a Mendelian disorder. The lab work will make use of specialist assays based on the gene under study, including protein assays, FACS analysis, microscopy and sequencing technologies. Students will be encouraged to develop their own niche to the project – supporting career development while undertaking excellent science.

The PI, Dr Louise Bicknell has an excellent track record in human disease genetics (7 co-authored Nature Genetics / Nature publications), and my passion and enthusiasm for our research underpins a fantastic, closely-knit team of researchers.

Funding Notes

The successful candidate will have obtained a BSc(Hons) or MSc with academic excellence and lab 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) - Dr Bicknell will provide significant support with this application. Please apply to Dr Bicknell with your CV (including three references), the transcripts for academic qualifications and a cover letter outlining your interest and career goals.

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