Almost $800,000 in funding was recently awarded to Murdoch University researchers from the Centre for Comparative Genomics (CCG) to develop genetic drugs to treat rare diseases. The money comes from the National Health and Medical Research Council (NHMRC) and will allow for the expansion of successful research into Duchenne Muscular Dystrophy (DMD) as well as diseases such as cystic fibrosis, spinal muscular atrophy and Pompe’s disease.
Steve Wilton, Chief Investigator, and Sue Fletcher have previously had success in their studies to develop treatments for patients suffering with DMD, having won the 2013 NSW Health James Callachor Eureka Prize for Medical Research Translation. With this new funding, they expect to make progress in other rare diseases: “We believe we can use the same technology that we applied in development of the drug for DMD to treat other rare diseases such as cystic fibrosis, spinal muscular atrophy and Pompe’s disease,” Wilton said in a press release.
Over the last 10 years, Professors Wilton and Fletcher developed a new drug for DMD patients. It functions by “skipping over” the faulty part of the gene message so that the functional version of the dystrophin protein is produced (this protein is responsible for stabilizing the muscle fiber). “Clinical trials of the drug we developed for Duchenne Muscular Dystrophy have yielded some remarkable results,” Wilton noted.
Professor Matthew Bellgard, Director of the CCG, and Professor Jack Goldblatt, Director Genetic Services & Familial Cancer Program of WA are also part of the research team that will receive the money, which will begin in 2015 and continue over the next four years.
Professor Fletcher noted the importance of research for developing drugs for rare diseases: the small number of patients requiring specific treatments can be very discouraging to investments in this area. As a result, research conducted on rare diseases at universities are crucial to ensuring that these patients will not be forgotten.
“When you add up all the people in Australia suffering from a rare disease there are at least 400,000 which is actually more than the number of people living with cancer (…) Yet despite the large number of people afflicted, there has been relatively little research on treatments for rare diseases. Within Australia, WA Health has been leading the drive to help those living with a rare disease and there is also increasing community awareness and advocacy, driven by community groups,” Professor Fletcher said.