Dr Louise Bicknell: researching gene "growth"

6 August 2018

My research career started with a PhD in human genetics at Otago, before moving to Edinburgh in 2008 to study the genetic basis of growth disorders at the MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, supported by a Medical Research Scotland grant from 2012.  My research employed the latest innovations in next-generation DNA sequencing technology to identify novel genetic causes of severe growth restriction causing primordial dwarfism. I have repatriated to the University of Otago with a Rutherford Discovery Fellowship in late 2015, to start my own research lab. We are fortunate to have attracted $2 million in research funding to support our work since my return, from the Marsden Fund, the Neurological Foundation of New Zealand and the University of Otago.

My lab is interested in the very simplistic connection between our DNA and how our bodies develop. I am fascinated by the power of single “spelling mistakes” in our DNA to dramatically alter human development and health, and to study these we focus on rare single-gene disorders. I have continued a “growth” theme, and my lab studies Meier-Gorlin syndrome (a growth restriction disorder), syndromic microcephaly, as well as other individual families where affected people have conditions that affect their growth as well as other body systems. We are passionate about helping families with a rare disorders get a genetic answer for their child – while our findings may not lead to cures, we never underestimate the power that having a genetic answer can provide to the family. We use both cell studies and an animal model to learn more about the impact of the “spelling mistakes” on organism development.

Finally, we wish to take our genetic studies further – families will be very aware of the individual differences amongst people with the same syndrome. Longer-term, can we harness the power of our DNA to predict these individual differences, and enable better clinical management and expectations in rare disorders. 

Dr Louise Bicknell