Important Discoveries Give Hope to Rare Genetic Disorders

Vancouver, BC – Novel discoveries funded by the Rare Disease Foundation and recently published in the journal Nucleic Acids Research appear poised to lead to potential new therapies to treat patients across a broad array of genetic diseases.

There are over 7,000 rare genetic diseases that affect about one in twelve people or over 500 million globally. For about 20% of these patients, the gene defect arises from a specific type of abnormality known as nonsense mutation; so as opposed to tackling the daunting task of developing unique therapies for each individual disease, a new therapeutic approach targeted at this mutation (and therefore multiple genetic disorders) is being developed by Dr. Michel Roberge, a Professor of Biochemistry and Molecular Biology in the University of British Columbia’s Faculty of Medicine in partnership with The Centre for Drug Research and Development (CDRD), Canada’s national drug development and commercialization centre.

The nonsense mutation creates a premature stop codon or signal in the defective gene, effectively telling the gene to stop the production of a full-length and functional protein – which can then have an array of debilitating or even lethal effects on the body. A group of antibiotics called aminoglycosides can suppress premature stop signals and restore the full-length protein production, but are effective only at high doses that are very toxic to patients.

Starting with a microgrant from the Rare Disease Foundation, Dr. Roberge set out to find new therapeutic solutions that are much safer for patients. His team, alongside that of CDRD, screened more than 200,000 chemical-compounds and discovered a number of novel molecules that when combined with lower, less toxic doses of aminoglycosides enhance suppression of the premature stop signals. Subsequent modification of these compounds by CDRD’s medicinal chemistry group resulted in novel molecules that open up the possibility of treating patients across a broader spectrum of genetic diseases caused by nonsense mutations.

Dr. Michel Roberge stated, “Having the Rare Disease Foundation come to the table as our first funding partner, and then have CDRD offer up their drug development expertise and infrastructure allowed us to move from just a novel idea to developing new molecules with therapeutic potential. It also allowed us to then attract additional funding partners including Genome British Columbia, The Canadian Institutes of Health Research and the Canadian Cancer Society, to take this work to the next stage of development.”

Dr. James Jaquith, CDRD Project Champion and Head of Medicinal Chemistry added, “CDRD is excited and optimistic about the outcomes our collaboration with Dr. Roberge. By looking at the commonalities in multiple rare diseases rather than just one specific disease, we are moving toward treating the root cause of rare diseases rather than managing the symptoms – and to date, we have been able to generate some very compelling data that clearly warrants further investigation and testing.”

“This brings hope to the 20% of people with rare diseases who have an early stop in a critical gene as the cause of their disease”, said Dr. Millan Patel, Research Director for the Vancouver-based Rare Disease Foundation. “We are still several years away from human trials, but work such as this is really exciting. The Rare Disease Foundation has provided similar microgrant awards to over 300 projects (> $1 Million) since November 2008, and Dr. Roberge’s work is just the latest in a number of innovative achievements funded through the small but effective Foundation Microgrant Program.”

Past successes include the development of life changing therapies for nine different diseases, discovery of over 15 new genes causing rare diseases, development of an app to help doctors determine if a child has a treatable intellectual learning disability, which in turn led to the revision of international guidelines, and follow on funding of over $6 million to various projects.


About the Rare Disease Foundation
Founded in 2008, the Rare Disease Foundation is a registered charitable organization supporting rare disease research internationally, with a majority of that research taking place in Canada. Their Vision and Mission is to revolutionize rare disease care through the creation of communities of patients, caregivers, healthcare providers, researchers and supporters working together to transform the lives of those living with rare disease.

About The Centre for Drug Research and Development (CDRD)
CDRD is Canada’s national drug development and commercialization centre working in partnership with academia, industry, government and foundations. CDRD provides the specialized expertise and infrastructure to identify, validate and advance promising discoveries, and transform them into commercially viable investment opportunities for the private sector — and ultimately into new therapies for patients. Canada’s Networks of Centres of Excellence Program has recognized CDRD as a Centre of Excellence for Commercialization and Research (CECR).

For more information, please contact:
David Cox, Executive Director
Rare Disease Foundation
Email –
Phone: 604-318-0237

Julia White, Manager of Communications
The Centre for Drug Research and Development (CDRD)
Email –
Phone: 604-827-1226