Research

Our research
Our research

We're searching for answers to some of the most common and complex childhood diseases, conditions and issues. In addition to our four research themes (Indigenous Health, Brain and Behaviour, Chronic and Severe Diseases, Early Environment), you can also discover more about specific research we're involved in and the technology we use.

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About us
About us

Discover what drives us as an organisation. Learn about history and the impact of the Institute along with the amazing ambitious goals we've achieved so far in the field of children's research.

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Be involved
Be involved

Join us! Get involved with Telethon Kids through providing a donation, volunteering your time, participating in important research, or with a professional commitment to the institute.

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Info for...
Info for...

Different audiences rely on us for very different things. Whether you're a valued donor, curious professional researcher, inquisitive member of the public, or a corporate supplier looking to offer support - we've collated the resources you need.

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97-97 of 97 results for 'Jenefer Blackwell'

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Research

CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays. ...

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97-97 of 97 results for 'Jenefer Blackwell'

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CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency