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| L4, Wallace Freeborn Building Royal North Shore Hospital Pacific Highway St Leonards NSW 2065 Phone: 61 2 9926 7176 Fax: 61 2 9926 8523 |
Department Head Prof Bruce Robinson email to:bgr@med.usyd.edu.au |
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| Click for Cytogenetics | Click for Laboratory & Community Genetics |
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The major work in the Molecular Genetics Unit involves examining the
consequences of mutations in the RET proto-oncogene in families with medullary
thyroid carcinoma and individuals with sporadic medullary thyroid carcinoma.
Second messenger systems are being examined which are activated by mutations
within the RET gene and animal models of medullary thyroid carcinoma are
being developed. A human tumour has been successfully cultured for over
6 months and will be studied to gain further insight into the behaviour
of this tumour. Clinical studies are also being performed to examine methods
for better detection of residual metastatic disease patients with medullary
thyroid cancer. One completed study has examined the use of Sestamibi
and a study in progress involves the use of Positron Emission Tomography
(PET).
Projects are also in progress to examine the genetic lesions in parathyroid carcinomas. Through our collaboration with the Department of Surgery, an extensive tumour bank has been generated and this is proving to be an invaluable resource in our studies of the genetics of parathyroid disease. The other major area of study is a rare condition known as oncogenic osteomalacia. This condition bears many clinical similarities to rickets. The tumour derived hormone, which is responsible for this condition, is being purified and will hopefully be isolated. |