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The developing brain: insights from rare diseases | Invercargill

Single gene disorders are rare, yet significant diseases affecting children. Recent discoveries shed light on aspects of human development.

Public lecture: celebrating 25 years of the Marsden Fund Te Pūtea Rangahau a Marsden

Professor Stephen Robertson has been the Curekids Professor of Paediatric Genetics at the University of Otago since 2002. He has gained international acclaim for his expertise on genetic disorders in children, with a particular emphasis on those affecting the development of the skeleton and the brain.

Stephen specialised in Paediatrics and Clinical Genetics after training in Otago, Auckland and Melbourne. From 1999–2002 Stephen held the prestigious Nuffield Scholarship at Oxford University, studying the genetic determinants of congenital malformations in children. His work has led to the implication of a new family of genes, the filamins, in the generation of these conditions.

Single gene disorders are typically rare, yet significant, diseases that affect a number of New Zealand children. The era of large-scale DNA sequencing has brought an unprecedented opportunity to define their cause and study their pathogenesis. Stephen’s work has seen him and his team discover genes that are implicated in dozens of genetic disorders. These include familial disorders where a number of members of a particular family are affected with life-affecting, even fatal, conditions.

Stephen continues to be an active clinician, staffing clinics throughout the South and North Islands, in addition to teaching genetics to science and medical students in Dunedin. His work is supported primarily by Curekids, along with the Marsden Fund and the Health Research Council of NZ.

About the Marsden Fund 25 Series

Marsden Fund Te Pūtea Rangahau a Marsden was established by the New Zealand government in 1994. Since then, it has driven world-class research in New Zealand by supporting and incentivising excellent researchers to work on their best and boldest ideas, to connect internationally, leading to new knowledge and skills with the potential for significant downstream impact for Aotearoa.

To celebrate 25 years of Marsden Funding, this series pf regional lectures, online profiles and videos shines a light on 25 researchers to reflect on the depth and breadth of research excellence supported by this funding. Over coming months, there will be 15 regional lectures and 10 online profiles to explore #Marsden25.

SPEAKER

Professor Stephen Robertson

Dunedin School of Medicine, University of Otago

ORGANISATION

Royal Society Te Apārangi

VENUE/DATE

Learning & Research Centre (Upper Level) Education Centre, Southland Hospital, Invercargill, Southland 9810

6:00pm Wed 12 February, 2020 - 7:00pm Wed 12 February, 2020