Assessment Of Mismatch Repair Gene Sequence Variants For Clinical Relevance
Funder
National Health and Medical Research Council
Funding Amount
$472,659.00
Summary
Mutations in mismatch repair genes cause familial cancer. A number of families carry sequence changes that do not obviously alter the gene product, and it is difficult to predict whether these variants are the direct cause of cancer in the family. Consequently, it is not possible to offer informative genetic counselling to these families. We aim to assess the value of several web-based programs, with additional information, to predict the functional changes determined for a panel of variants.
ASSESSMENT OF ENDOPLASMIC RETICULUM STRESS AND MUTATIONS IN MUCIN OLIGOMERIZATION DOMAINS IN ULCERATIVE COLITIS
Funder
National Health and Medical Research Council
Funding Amount
$292,216.00
Summary
Ulcerative colitis affects 0.2% of Australians causing chronic or recurrent health morbidity and affecting employment. In severe cases it is life threatening. Its pathogenesis remains poorly understood. We have exciting and novel preliminary data from humans and informed by our unique animal models that make us propose that the disease is caused by Endoplasmic Reticulum Stress due to misfolding of mucin. We have designed fully powered prospective clinical and lab studies to test this hypothesis.