Rare insight: Research improving lives of people with rare diseases

CIHR and Genome Canada are working to improve the care of patients with rare diseases through coordinated research efforts and knowledge translation activities. Together with other public and private sector partners, our organizations are connecting clinicians and researchers to accelerate the discovery of genes responsible for rare diseases. As well, we are supporting the translation of these discoveries to produce changes to clinical care that will end the diagnostic odyssey for many children and their families and bring them closer to beneficial treatments.

CIHR and Genome Canada are playing a leading role at the international level. We are engaged in the activities of the International Rare Diseases Research Consortium (IRDiRC), a consortium of 40 public and private research entities that have committed to supporting research to develop 200 novel therapies and new diagnostic tools for most rare diseases by 2020. We are also a member of E-Rare-3, a consortium supported by the European Commission and comprised of 26 partners from 18 countries, including CIHR, Genome Canada, and the Fonds de recherche du Québec – Santé. The consortium coordinate joint funding opportunities for research on priorities set by IRDiRC.

The following impact stories provide some examples of what can be achieved when funders, researchers, clinicians, industry, regulators, patients, and families work together to improve global health. CIHR and Genome Canada are committed to a continued support of research in the field of rare diseases and its coordination for access to global resources to ensure that Canadian scientists continue to be leaders in this area to ultimately deliver better outcomes for patients and their families living with rare disease in Canada and in the rest of the world.

Protecting motor neurons
Exploring the role of RNA dysregulation in Amyotrophic Lateral Sclerosis (ALS)
Dr. Heather Durham

The best decision
Helping policy-makers make coverage choices about drugs for rare diseases
Dr. Larry Lynd

Exploring new treatments for rare retinal disorders
Developing a gene therapy protocol for choroideremia
Dr. Ian MacDonald

Evaluating new treatments
Working to improve life expectancy in patients with cystic fibrosis
Dr. Felix Ratjen

Regulating muscle stem cell function
Uncovering molecular mechanisms behind muscle growth and repair
Dr. Michael Rudnicki

Platforms for gene discovery
Developing systems to connect rare diseases communities
Dr. Michael Brudno
Dr. Kym Boycott

From mutation to disease
Understanding the causes of rare diseases
Dr. Phil Hieter
Dr. Kym Boycott

Rare diseases
Changing the way forward for care and treatment
Dr. Kym Boycott
Dr. Alex MacKenzie

Understanding the outcomes
Treatments for rare metabolic diseases
Dr. Beth Potter
Dr. Pranesh Chakraborty

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