Finding cures for children's genetic diseases

News

$2m for CMRI facility

14/Nov/2013  
Premature aging in children as young as 5 years old, organ failure, and cancer can all be caused by rare genetic diseases that affect telomeres.

Children’s Medical Research Institute (CMRI) is working to find new treatments for these children as well as new treatments for all types of cancer.

CMRI already has the largest team of telomere researchers anywhere in the world and now, with $2 million dollars in support from the Australian Cancer Research Foundation (ACRF) announced today, CMRI will be able to establish the first Telomere Analysis Centre in Australia.

“We are trying to understand vital problems ranging from cancer to rare genetic disorders, like dyskeratosis congenita (DC),” says Professor Roger Reddel, Director of CMRI, who is known internationally for his research on telomeres.

DC is a disease that can have serious effects throughout a family. Symptoms usually worsen over time and often get more severe in each subsequent generation, so children who inherit the faulty gene will be worse off than their affected parent.

Marissa has DC. She recently lost her brother to the disease and now both her children have been diagnosed with it, including 9-year-old son, Alexander.

Marissa says, “The whole family is affected by this. It’s not just that one person in the family has passed away—there is a ripple effect throughout the family and even friends.

“There’s a definite need for the Telomere Analysis Centre being developed by CMRI. Australia is a long way behind because it doesn’t have these facilities.”

The four research teams working on telomeres at CMRI are partnering with other research organisations, including The Children’s Hospital at Westmead and Kids Cancer Alliance, to make this centre a reality.

Australia is already known internationally for research on the involvement of telomeres in cancer, and we now want to build up our capacity to use that expertise for the benefit of patients and families suffering from inherited disorders of telomeres,” says Professor Reddel.

What are telomeres and why do you need them? Telomeres are protective caps, like the plastic bit at the end of a shoelace, which protect your DNA. Telomeres are slowly lost over time, causing aging.

When telomeres are excessively short, this interferes with the normal function of organs, like skin, lungs and bone marrow, which need their cells to reproduce continuously. There are a number of genes that are responsible for normal telomere length, and a mistake in the DNA code of any one of these may result in excessively short telomeres, which causes DC.