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Population-based Genetic Screening For Klinefelters Syndrome: A Critical Analysis
Funder
National Health and Medical Research Council
Funding Amount
$75,468.00
Summary
Klinefelter’s Syndrome (KS) is a common and important genetic condition affecting males, yet 70% are never diagnosed. Males with KS are always infertile and may have hormone imbalances, breast development, decreased facial and pubic hair, and varying levels of cognitive, social, behavioural and learning difficulties. Treatment and intervention options are available, if KS is diagnosed early enough. Screening for the condition is possible - but what would the advantages and disadvantages of this ....Klinefelter’s Syndrome (KS) is a common and important genetic condition affecting males, yet 70% are never diagnosed. Males with KS are always infertile and may have hormone imbalances, breast development, decreased facial and pubic hair, and varying levels of cognitive, social, behavioural and learning difficulties. Treatment and intervention options are available, if KS is diagnosed early enough. Screening for the condition is possible - but what would the advantages and disadvantages of this be?Read moreRead less
Identifying Novel Disease Genes In Abnormalities Of The Eye
Funder
National Health and Medical Research Council
Funding Amount
$123,454.00
Summary
The macula is located in the centre at the back of the eye and is essential for detailed and colour vision. There are familial forms of macular abnormalities and many elderly patients suffer from age-related macular degeneration. The gene function that is critical for the maintenance of a healthy macula is not fully known. In this project, a novel process in maintaining macular health will be investigated to identify the underlying genetic cause and associated functional defects.
Identification, Validation And Functional Analysis Of Genes And MiRNAs Involved In Recurrent Non-small Cell Lung Cancer.
Funder
National Health and Medical Research Council
Funding Amount
$104,664.00
Summary
Recurrence of lung cancer after treatment affects 20-85% of patients. Current prognostication tools are inaccurate and thus patients receive generic treatments. Our intention is to identify genes involved in recurrence of lung cancer. We foresee that this will translate to earlier identification of at-risk patients enabling individualised less toxic and more successful treatments. We also hope to better understand biology of lung cancer recurrence and discover new targets for treatment.