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Prestigious Rutherford Fellowships won by Otago researchers

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Wednesday, 1 October 2014 10:49am

Two talented early to mid-career scientists will return to the University of Otago after gaining highly sought-after Rutherford Discovery Fellowships, which are valued at up to $800,000 each over five years.

Otago PhD graduate Dr Louise Bicknell and former Department of Anatomy research fellow Dr Michael Knapp will return to the University from their positions in research institutes in Scotland and Wales, respectively. Dr Bicknell will be based in the Department of Pathology and Dr Knapp in Anatomy.

The Fellowships, of which 10 are awarded annually, foster the development of future leaders in the New Zealand science and innovation sector. They are funded by the Ministry of Business, Innovation and Employment and administered by the Royal Society of New Zealand.

Dr Louise Bicknell

Department of Pathology, Dunedin School of Medicine, University of Otago

Investigating the contribution of genetic variation to shaping human disease

Louise Bicknell
Dr Louise Bicknell

Dr Louise Bicknell is a molecular geneticist whose long-term goal is to understand how genetic differences between people can alter the development and progression of disease.

She completed a PhD with Professor Stephen Robertson, utilising genetic mapping technology to identify the genetic cause of a unique severe brain and skin syndrome in a New Zealand Maori family. She moved to Edinburgh in 2008 to undertake a postdoctoral position with Professor Andrew Jackson, University of Edinburgh, to research the genetics of a group of rare monogenic syndromes, primordial dwarfism.

A standout discovery was that dysfunction of the earliest initiators of DNA replication disrupt growth, entirely unanticipated given the fundamental cellular role.

These publications, amongst others, led to a Medical Research Scotland fellowship as a Senior Research Fellow to continue her research, harnessing the power of new sequencing technology to gain new insights into human growth. Her research programme will use genetic data to understand the relationship between background genetic variation and human disease.

Research

Although the human genome sequenced was completed in 2003, we still understand very little about our genome and how the variation present makes people differ in their development and in their lifetime health.

Two per cent of our genomes vary between each other but we understand only the tip of the iceberg of this variation. There are a lot of variants in our genomes, some with more functional influence than others.

Dr Bicknell hypothesises that differences between patients with the same disease can be due to an influence of additional modifier variants in their genome, which function through modifying the action of other genes in our cells.

Dr Bicknell will use her Rutherford Discovery Fellowship to analyse genomic data, and by utilising cellular and developmental models, understand the contribution of modifier variants to single-gene disorders. Insights gained will be important for appropriate diagnosis and medical management, further understanding the disease mechanisms and can serve as a useful foundation for related complex disorders.

Dr Michael Knapp

Department of Anatomy, University of Otago

Evolution and conservation of the New Zealand bird fauna – a genomic approach

Michael KnappDr Michael Knapp

The New Zealand bird fauna is unique in the world and a key element of New Zealand’s natural heritage. In the absence of mammals, birds have evolved to fill their ecological niches. This unusual situation has for example given rise to the world’s largest raptor, Haast’s Eagle, the ecological equivalent of a lion or tiger.

New Zealand is also home to the only alpine parrot in the world, the kea, and the world’s only flightless parrot, the Kakapo. The New Zealand bird fauna is a model for adaptive evolution comparable to the famous Galápagos finches that inspired Darwin’s work, and its preservation is one of the country’s major conservation challenges.

Due to their adaptions to a mammal free environment, New Zealand birds have suffered dramatic losses through introduced mammalian predators. Since humans arrived in New Zealand, 61 native bird species have become extinct and 170 are currently listed as threatened or at risk. Species such as Kakapo and Black Stilt are now among the rarest birds in the world and many more, such as Kea and Kaka are dependent on intensive conservation efforts.

Because of its evolutionary relevance, the conservation of the New Zealand bird fauna is of more than national importance. Understanding the evolution of New Zealand birds and preserving them for the future are global challenges. Next generation sequencing technology now allows us to address these challenges with an unprecedented amount of genetic information.

This research programme will use complete nuclear genome data to reconstruct the molecular basis of evolutionary adaptions to new environments in New Zealand birds. Furthermore, it will introduce the use of functional genomic data into bird conservation in New Zealand. Instead of using neutral genetic markers to guide conservation efforts, complete genome data will be used to evaluate how populations of threatened bird species differ on a functional genomic level and to develop targeted conservation strategies based on these data.

The research programme will contribute to protecting New Zealand’s natural heritage and help establish New Zealand at the cutting edge of the rapidly growing field of conservation genomics.

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