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Understanding a rare disease to develop treatment for common bone diseases

Understanding a rare disease to develop treatment for common bone diseases

PhD/Honours project

Remodelling of bone is critical for normal physiological function and becomes dysfunctional in diseases such as Osteoporosis (bone thinning and fragility) and Osteosarcoma (bone cancer), where a paucity of bone material causes debilitating illness that is currently irreversible. Alternatively, mutation of a specific membrane protein, ClC-7, causes a rare inherited disease (Osteopetrosis) in which too much bone material is deposited leading to abnormally increased bone mass. Our preliminary studies have suggested a molecular basis for aberrant function of ClC-7 mutants in Osteopetrosis. The aim of this project is to fully characterise the mechanism of ClC-7 mutations that cause Osteopetrosis in order to develop drugs that mimic the phenotype of these mutations. Uniquely, these drugs would be able to reverse the damage done by a number of debilitating bone diseases. The project will involve a diverse range of experimental approaches, from X-ray crystallography and in silico computational studies to binding studies and functional measurements using advanced electrophysiological techniques and optical assays.

Supervised by:

  • Prof Michael Parker
  • Dr Brett Bennetts
  • Disease Focus:

  • Cancer
  • Osteoporosis
  • Research Unit:

  • Structural biology