About the Project
-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.
Why not add a message here
Based on your current searches we recommend the following search filters.
Based on your current search criteria we thought you might be interested in these.