Finding cures for children's genetic diseases


CMRI Scientists Recognised for their Quality Research

Three researchers from Children’s Medical Research Institute (CMRI) have been recognised for their remarkable work at the Research Excellence Awards, held in the Jubilee Room at Parliament House in Sydney.

The Member for Heffron, Mr Ron Hoenig MP, gave a brief overview on the importance of medical research, before the three researchers were honoured in the form of four awards; two for an Outstanding Research Idea with a $100,000 prize, and two for an Outstanding Research Achievement with a $50,000 prize. The awards were judged by members of the Australian Academy of Science.

CMRI Director, Professor Roger Reddel, addresses attendees at the Research Excellence Awards

Professor Robyn Jamieson took home two awards; her Outstanding Research Idea is an ambitious approach to restore vision in patients with inherited blindness, especially those where no current treatment exists. Using the most advanced gene therapy techniques, they will develop methods that will work for eye diseases as complex as retinal diseases and macular degeneration, which are expected to affect 196 million people globally by 2020.

Professor Jamieson was also awarded an Outstanding Research Achievement. Congenital cataracts are a significant cause of childhood and adult blindness worldwide, but the genetic causes can vary widely, which hampers diagnosis. Prof. Jamieson’s group has achieved the ability to diagnose the underlying genetic problem in 70% of cases. Their genetic approach has now been implemented in the clinic, so it is now available to patients throughout Australia and around the world.

Associate Professor Hilda Pickett was the recipient of the second Outstanding Research Idea, with her plans to use a technique she’s developed to spot which of two methods – ALT or telomerase -  a cancer uses to achieve unlimited growth, by analysing its DNA sequence. This information will help researchers understand how cancers respond to different treatments and, in future, help guide the best choice of cancer therapy.

“It’s a great honour to receive recognition for the significance of this research. The project aims to use genomic and proteomic datasets to characterise tumour pathways associated with telomere length and telomere maintenance, and has the potential to revolutionise cancer treatment strategies,” A/Prof. Pickett said.

The recipient of the second Outstanding Research Achievement award was Professor Ian Alexander, for his research which explains why early gene therapy trials for SCID-X1 were halted when some patients developed T-cell leukaemia. His research also details how it can be avoided in future.

"We greatly appreciate this recognition of our research efforts focused on improving the safety of genetic repair of the immune system in infants. Dr Samantha Ginn deserves special mention for her invaluable contribution," Prof. Alexander said.

Award recipients: Professor Ian Alexander, Professor Robyn Jamieson, and Associate Professor Hilda Pickett 

Children’s Medical Research Institute is extremely proud of the work our researchers do, and we would like to acknowledge the great generosity of Mr Xiangmo Huang who established the Research Excellence Foundation at CMRI to support ground breaking research which will deliver long-term benefits to society.