Finding cures for children's genetic diseases


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.”