Dr Hilda Pickett (second from left) and her team
DIRECTOR’S DESK
Welcome to the Winter 2013 edition of Under the Microscope. Children’s Medical Research Institute (CMRI) has had an eventful few months with construction of our new building underway since February, a visit from the Prime Minister during his re-election campaign, and many exciting research results. Although the election outcome means that Mr Rudd will not be able to fulfil the commitment he made to CMRI and our Westmead partners, we are hopeful that the growing interest in our work by all major political parties will result in much-needed support for expanding our facilities. It is essential we develop the facilities our researchers need in order to realise the full potential of CMRI’s research programs into cancer, birth defects, gene therapy and neurological disorders such as epilepsy. Dr Megan Chircop’s ongoing work on glioblastoma, an aggressive type of brain tumour, received attention in the media recently. Also, CMRI researchers including Dr Hilda Pickett were involved in an international study that identified a new genetic risk factor for cancer. The study involved hundreds of researchers and more than 100,000 participants – a great example of what can be achieved with collaboration and computing power. Nearly a dozen other new findings by our researchers have been published in international journals in the first half of 2013. This year marks the 20th Anniversary of Jeans for Genes, and once again we have had wonderful support from the Australian community. Schools, families, individuals and businesses each had their own unique way of showing their enthusiasm. There are some great stories on our Jeans for Genes Facebook page and on page 4 of this issue. As ever, we greatly appreciate the support of our Committees, service organisations and other members of the Australian community who back us all year long. Some of their stories can be found on page 6. Research has provided all of the amazing improvements in healthcare we enjoy. Major advances all require many years of hard work, and success is never guaranteed. CMRI has a long track record of successes, and is now aiming higher than ever, seeking to treat inherited diseases with gene therapy, and develop new types of treatment for epilepsy and cancer. It is tremendously encouraging that this work has nationwide support. Best Wishes,
CMRI Scientists Help Discover Cancer Susceptibility Gene
Researchers from Children’s Medical Research Institute (CMRI) have contributed to a huge international study to identify genes that associate with specific cancers: the Collaborative Oncological Gene-environment Study (COGS). Thirteen research papers in total have been published, five of them in the prestigious journal, Nature Genetics. CMRI researchers, Dr Hilda Pickett, Mr Michael Stutz, and Professor Roger Reddel, contributed to a Nature Genetics paper identifying DNA variations close to the TERT gene (which encodes the vital, catalytic component of telomerase) that associate with risk of breast and ovarian cancer. Variations in DNA called single nucleotide polymorphisms (SNPs) are a normal part of our genetic code. They contribute to our individual, unique genetic makeup. And they also contribute to making us more or less susceptible to certain diseases. The research team found SNPs in three regions of the TERT gene that make some people less likely, and others more likely, to get these specific cancers. The study involved hundreds of researchers around the world and more than a hundred thousand people who volunteered to have their genetic information analysed. Prof. Reddel said, “To hold a telephone conference to discuss progress of the study, it was quite a challenge just to find a time of day that suited researchers in many time zones.” The success of this huge study illustrates the benefits of international research collaboration, and the ability of today’s computers to handle extraordinarily large quantities of research data.”
Glioblastoma Progress
Research undertaken by Children’s Medical Research Institute’s Dr Megan Chircop, with funding from Cancer Council NSW, aims to stop cell division in difficult-to-treat brain tumours with fewer side-effects than current treatments. Preclinical testing of a new medicine shows it has the potential to shrink brain tumours substantially, but the treatment still needs to go through a lot more rigorous testing before it can be trialled in patients. “The research is still in its early stages, and needs further development and testing, but I’m hopeful we will develop something that will ultimately outperform existing chemotherapy drugs,” Dr Chircop says. Around 1,200 people die of brain cancer every year. It kills more Australians under the age of 39 than any other cancer, but is the most understudied of all cancers and receives very little research funding. Some types of brain cancer are particularly aggressive, and Dr Chircop is focussing on these.
Professor Roger Reddel