The figure opposite depicts our strategic goal for physiological genomics. The input comes from genetic information related to common human conditions. Relevant portions of DNA are inserted into special cells and we measure the biophysical characteristics with patch clamp and imaging techniques. If the suspect DNA results in significant disturbance in function, the next step is to produce stem cells to facilitate the creation of animal models. One major focus is genes that encode cell membrane proteins, in particular the ion channels.
Ion channels are vital to most cellular physiological functions in virtually all living organisms.
Ion channels are integral membrane proteins that mediate the rapid and selective movement of charged inorganic solutes and water across cell membranes. They are also well known targets for a variety of pharmacological agents such as anti-arrhythmics, local anaesthetics, anticonvulsants, antihypertensives, diuretics, antidiabetic drugs and antianginal agents. Research during the last 10 years has revealed a startling wealth and diversity of genetic syndromes caused by mutations in genes encoding ion channel proteins. We have assembled a rudimentary system that offers the only working oocyte voltage clamp set-up in Victoria. We can visualise in real-time protein trafficking within living cells through the use of chimaeric proteins created by fusing the mutant protein with a fluorescent protein.