First published Thursday 25 January 2018.
For more information
Please contact Dr Lassmann at timo.lassmann@telethonkids.org.au.
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Telethon Kids Institute congratulates Prof Gareth Baynam and Dr Timo Lassmann on their grant of $2,100,000 over three years from the McCusker Charitable Foundation.
This grant is in support of the Undiagnosed Diseases Program (UDP), co-led by Prof Baynam and Dr Lassmann, that seeks to discover the causes behind rare and genetic childhood diseases. Some 70 percent of children who suffer from rare diseases go undiagnosed, and the UDP's ambition is to significantly decrease this statistic.
An important aspect of the UDP's work is to functionally characterise novel variants discovered in young patients through gene sequencing and analysis.Without conducting experiments to prove the causal relationship between the variant and the disease, no definitive diagnosis can be made.
The grant will allow Dr Lassmann and Prof Baynam to establish a specialised functional validation laboratory to address this critical need. They will take a patient's cells and use gene editing techniques to correct the variant and determine if this restores normal cell function.
While these experiments will be challenging, they are the best way to generate the proof required to make a definitive diagnosis.
The Institute is grateful for the McCusker Charitable Foundation's support, which will help the UDP find faster diagnoses for children with rare diseases, build a new knowledge base for ongoing discoveries, develop local capacity, accelerate the international recognition of Western Australian medicine and science, and extend the UDP's collaborative network.
First published Thursday 25 January 2018.
Please contact Dr Lassmann at timo.lassmann@telethonkids.org.au.