Seeing a way forward
Opening up the human genome presents unimagined treatment possibilities for understanding and treating a huge range of conditions. For one pioneering researcher, it offers the possibility of restoring sight.
In her lab, Dr Jamieson is working at the forefront of what's happening in genomics.
Dr Robyn Jamieson (PhD(Medicine) â98) first became interested in the possibilities of medical advances in genetics early in her career, long before the human genome was fully sequenced.
âA lot of the diseases back then, you couldnât get to the fundamental answer,â she remembers. âWe were just treating symptoms â we didnât really understand what was causing them.â
Now, of course, the science of genomics is rocketing ahead at an astounding speed. Jamiesonâs 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 Jamiesonâs work is the White family from Sydneyâs north-west. Beth White and her three children all have an extremely rare genetic eye condition â so rare, it doesnât yet have a name, which has left Beth blind, and her children â Kathryn 15, Samuel 13, and Matthew 10 â with progressively deteriorating vision. They share a defective gene that Jamieson and her team managed to isolate from billions of possibles.
âWhatâs been really amazing has been the whole next generation sequencing revolution,â she says. âA 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 wasnât fast enough, and it was too costly.â
The White family (from left): Samuel, David, Beth, Kathryn and Matthew, with their dog.
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. âThey had said âdonât get excited, they may never find itâ. Itâs that hard,â Beth White said. âThey found it in five months. Thatâs huge.â
David White â Bethâs husband â adds: âThere are some groups that have spent five years, 10 years and mega-millions and never got anywhere near the traction thatâs been built up, which is really only over a few years.â
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 â 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.
To me this sort of work and being at this point is just amazing. But itâs such a delicate balance in giving people hope. When youâre a patient, or when you have a child with the condition, while the hope is great, you want treatment now.
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 wonât live up to their hopes and expectations. Still, she knows her work has tremendous potential.
Dr Robyn Jamieson
The condition affecting the Whites has now been recreated as a laboratory model at the Childrenâs Medical Research Institute, giving the possibility of developing a treatment.
âWe have used whole genome sequencing to identify novel disease genes in several families â genes not previously known to be associated with these types of conditions,â Jamieson explains. âSo weâve 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 thatâs proof of principle to go on to the human.â
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 â 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.
âAt the start of my clinical career, I was seeing people and being able to give them basically no information,â she says. âWe 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.â
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