Luminesce Alliance Paediatric Precision Medicine - Functional Genomics
The issue: There are thousands of rare genetic diseases and some cancers in children that are difficult to diagnose and treat because we do not
fully understand them. While most of these diseases are extremely rare, together they affect 5 to 10% of the population.

What we did: We established a translational research team and built on existing infrastructure to support a functional genomics capability.

The outcome: We have created a new research resource and workforce capability in diagnostic genomics and applied genomics, which has led to
the discovery of disease-causing genes and targets for treatment and paves the way for advanced therapeutics.

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