Cure Kids has initiated a Foundation Funding campaign to facilitate the goal of establishing a Paediatric Clinical Genomics Research Centre at the University of Otago, and led by world-renowned paediatric geneticist and clinician, Prof Stephen Robertson.
The Centre would be a research hub dedicated to rare diseases which beset children.
The Centre will be tasked with scouring individual genomes and identifying novel and complex mutations in children.
Funding of $300,000 per year for three years is required to provide this robust yet diverse workforce, each specialising in their respective fields, yet complementing each other to their shared end; better health for young children.
The term ‘rare’ belies the impact of these conditions – in fact, ‘rare’ diseases are more common than we think, with over 7000 diseases categorised as such, affecting around 1 in 10 of the population.
Often described as an odyssey, the journey for child and family to receive a diagnosis is long and grueling. The rarity of their condition can mean that their regular physician either won’t pick up on symptoms, or perhaps dismiss them as ‘nothing to worry about’. We want to shorten this odyssey, and help provide these families with an earlier diagnosis; not just for peace of mind, but to help them as they forge their road ahead. In addition, probability can inform parent’s decisions about conceiving another child, or it could lead to younger siblings being tested and diagnosed in a timely fashion.
The hub will be an intensive effort, by a number of specialised doctors, scientists, and clinicians to provide clinically-orientated, diagnostically-driven outcomes for children throughout New Zealand.
For more information on how you can get involved in this important major project please contact:
Tim Edmonds, Research and Innovation Director