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Dr Robyn Jamieson (PhD(Medicine) 鈥�98) first became interested in the possibilities of medical advances in genetics early in her career, long before the human genome was fully sequenced.

鈥淎 lot of the diseases back then, you couldn鈥檛 get to the fundamental answer,鈥� she remembers. 鈥淲e were just treating symptoms 鈥� we didn鈥檛 really understand what was causing them.鈥�

Now, of course, the science of genomics is rocketing ahead at an astounding speed. Jamieson鈥檚 work has been concentrated on the eye and it has led to significant advances in the treatment of certain debilitating genetic eye conditions.

One focus of Jamieson鈥檚 work is the White family from Sydney鈥檚 north-west. Beth White and her three children all have an extremely rare genetic eye condition 鈥� so rare, it doesn鈥檛 yet have a name, which has left Beth blind, and her children 鈥� Kathryn 15, Samuel 13, and Matthew 10 鈥� with progressively deteriorating vision. They share a defective gene that Jamieson and her team managed to isolate from billions of possibles.

鈥淲hat鈥檚 been really amazing has been the whole next generation sequencing revolution,鈥� she says. 鈥淎 lot of the patients we were seeing had many, many possible underlying disease genes. It was impossible with the previous technology to get answers. It wasn鈥檛 fast enough, and it was too costly.鈥�

Identifying the gene is only a first step. Now a treatment must be designed. But the Whites themselves are very aware of what a big first step this is. 鈥淭hey had said 鈥榙on鈥檛 get excited, they may never find it鈥�. It鈥檚 that hard,鈥� Beth White said. 鈥淭hey found it in five months. That鈥檚 huge.鈥�

David White 鈥� Beth鈥檚 husband 鈥� adds: 鈥淭here are some groups that have spent five years, 10 years and mega-millions and never got anywhere near the traction that鈥檚 been built up, which is really only over a few years.鈥�

Genetic diagnosis via sequencing has opened the door to a whole new realm. At the same time the advent of gene-editing technologies such as CRISPR, which can add, remove, or alter DNA within a cell, has expanded that realm even further. Yet finding a way to harness gene therapy to cure these rare diseases requires yet more scientific advances 鈥� to find both a suitable therapy and method of delivery.

With her team, Jamieson, who is Professor of Genomic Medicine and the Head of the Discipline of Genetic Medicine at the University of Sydney Medical School, has recorded significant breakthroughs, providing some hope for families dealing with congenital diseases.

Originally from western Queensland, Jamieson studied widely, including postdoctoral research work in Britain on genomics and disease gene analysis. She returned to Australia to set up her own research group that would do clinical work with patients and, simultaneously, undertake lab work to accelerate the genetic research. Her ideas were in advance of their time and some scientists then were actually doubtful of the benefits of combining genetic research with clinical studies.

Bursting with energy and sheer intellect, Jamieson is also extremely compassionate; concerned about her patients and their relatives, and always worried that scientific advances won鈥檛 live up to their hopes and expectations. Still, she knows her work has tremendous potential.

The condition affecting the Whites has now been recreated as a laboratory model at the Children鈥檚 Medical Research Institute, giving the possibility of developing a treatment.

鈥淲e have used whole genome sequencing to identify novel disease genes in several families 鈥� genes not previously known to be associated with these types of conditions,鈥� Jamieson explains. 鈥淪o we鈥檝e made model systems for some of those conditions and we used the CRISPR technology to model the exact mutation. This technology can also be used to determine if we can provide a cure in the model systems. And then that鈥檚 proof of principle to go on to the human.鈥�

She adds that the discovery of the novel disease gene serves to help the Whites understand their condition, and later down the track it will give the children information about the exact gene change, something their parents never had. But the Holy Grail is treatment for the existing condition 鈥� either to fix it, or stop it progressing.

Meanwhile, work is also underway to determine the best way these sorts of potential treatments can be delivered. A stem cell treatment perhaps, or a type of CRISPR fix could be injected into the eyeball as part of an attenuated virus.

鈥淎t the start of my clinical career, I was seeing people and being able to give them basically no information,鈥� she says. 鈥淲e just had nothing. So much has changed. For families like the Whites, with genetic disorders, hopes are high that any number of new treatments are appearing just over the horizon.鈥�

Help us find answers

To help support this groundbreaking research, please call Rachel Love on +61 2 8627 8818 or email development.fund@sydney.edu.au