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Discover . Prevent . Cure .

What’s in a name?

In WA, 60,000 kids live with a rare disease, and of those about half do not have a diagnosis. At The Kids, researchers are leading the charge in developing a method to identify genetic variations, so that kids like Charlotte can get answers.


Charlotte (6), with mum Laura and brother Josh

For thousands of WA children living with undiagnosed diseases, it’s hope.

Every expectant parent wants a healthy, happy baby. But sometimes, the joy of welcoming a newborn is met with the heartbreaking discovery that something is seriously wrong.

While these parents may have chosen the perfect name for their baby, the devastating disease their child is born with has none.

Charlotte is one of these children. Every day lived with an undiagnosed disease is filled with pain and sickness. Desperate for answers, her family is left with very few. See her story here.

Now, imagine the kind of hope a diagnosis can bring. A powerful breakthrough that can connect these children with critical therapies or even, one day, a cure.

The genomics revolution means we can now detect tiny variations in DNA, which is uniquely different in every individual.

Discovering those variations responsible for the disease is a whole new frontier of science – and at The Kids, we are at the leading edge.

We are now in a position to help solve some of the most challenging medical mysteries.

Attendees at this year’s Telethon Ball were so moved by Charlotte’s story they donated more than $1 million to support this vital research. 

The Kids is bringing together specialised teams of clinical geneticists, mathematicians, computer and laboratory scientists collaborating to find an answer for each child.

These teams are analysing the huge range of DNA variations that might be causing the symptoms. 

Our cell biologists are then replicating those gene variations in the lab and comparing them with normal genes to discover a diagnosis, which changes the lives of these families – opening up the possibility of new therapies and for some, even a cure.

Currently, we can only help five of these children each year. We’d love to make this 50 and then many more over time. Your support can help expand this world leading research program.

Every child deserves to lead a healthy, happy life. Every child deserves to know the ‘why’ in their story. It’s our mission and your opportunity to give them those answers.

Thank you to Charlotte and her family for allowing us to share her story with you.