Fullbright Future Scholar: Finding Genetic Answers

03 December 2019
Rare Diseases

Congratulations to Ruebena Dawes, PhD student at the University of Sydney Children’s Hospital Westmead Clinical School, who has received a Fullbright Future Scholarship to undergo training in the laboratory of one of the world’s foremost experts in genomic informatics, A/Prof Monkol Lek at Yale School of Medicine.

The Fullbright Future Scholarship - offered by The Australian-American Fullbright Commission, funded by The Kinghorn Foundation funds projects that seek to have a positive impact on the health, livelihoods and prosperity of Australians.

Ms Dawes has been working closely with Prof Sandra Cooper, Joint Head of the Kids Neuroscience Centre at the Children’s Hospital at Westmead to improve and apply computational techniques to find hard-to-detect disease causing genetic variants in rare disorders. Prof Cooper’s recent discovery of a new genetic testing mechanism is now providing hope and guidance for families with rare disorders, read more about it here.

Obtaining a precise genetic diagnosis is of utmost importance with approximately 50 per cent of children being admitted to paediatric hospitals have an underlying inherited condition. As a Fullbright Future Scholar, Ms Dawes will continue this significant work on finding genetic answers for the current undiagnosed cohort of 82 families with rare disorders.  












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