Harper Government supports research on rare diseases

OTTAWA, Feb. 29, 2012 /CNW/ - The Harper Government today announced new research aimed at improving the lives of people with rare diseases. The announcement was made by the Parliamentary Secretary to the Minister of Health, Dr. Colin Carrie, on behalf of the Honourable Leona Aglukkaq, Minister of Health.

"Our Government is committed to improving the quality of life of Canadians," said Dr. Carrie. "Today's announcement is about helping patients and families affected by a rare disease and improving the lives of those living with these conditions."

The overall objective of the research is to transform fundamental biological research into medical practice and treatments in the area of rare diseases.  For example, one team is conducting research on Fabry disease, a rare condition that affects many organ systems and results in a reduced life expectancy.  This team will conduct a clinical research trial involving gene therapy, with the ultimate goal of establishing an effective treatment for this disease.  In total, nine collaborative research teams will be supported.  They will investigate a range of issues related to rare diseases, including basic biological science, health services, and policies.

"CIHR is pleased to support these new research teams," said Dr. Lasko, Scientific Director of the CIHR Institute of Genetics.  "This is the first time that Canada has supported interdisciplinary research of this kind, and marks a significant step forward in our country's contribution to this field of study.  It is our hope that this research will produce new practices, policies, and treatments that will transform the lives of Canadians living with rare diseases."

"Canada has excellent researchers and we are delighted that they will now have the opportunity to focus on rare diseases," said Dr. Wong-Rieger, President of the Canadian Organization for Rare Disorders.  "This CIHR research announcement will help ensure that Canada is contributing to improving the lives of not only Canadians, but all people living with rare disorders.  The Canadian Organization for Rare Disorders is pleased to be a partner in supporting the research and a partner in some of the projects."

A rare disease is one that affects a small number of people, when compared to the general population. In general, a disease is considered rare when it affects less than one in 2,000 people. They are often chronic diseases and life-threatening. For many rare diseases, signs may be observed at birth or in childhood, as in proximal spinal muscular atrophy, neurofibromatosis, osteogenesis imperfecta, chondrodysplasia or Rett syndrome. However, more than 50% of rare diseases only appear during adulthood, such as Huntington disease, Crohn's disease, Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, Kaposi's sarcoma, or thyroid cancer.

The Canadian Institutes of Health Research (CIHR) is the Government of Canada's health research investment agency. CIHR's mission is to create new scientific knowledge and to enable its translation into improved health, more effective health services and products, and a strengthened Canadian health care system. Composed of 13 Institutes, CIHR provides leadership and support to more than 14,100 health researchers and trainees across Canada.

The Canadian Organization for Rare Disorders (CORD) is Canada's national network for organizations representing all those with rare disorders. CORD provides a strong common voice to advocate for health policy and a healthcare system that works for those with rare disorders. CORD works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for all rare disorders in Canada.

Fact Sheet

CIHR Team Grant: Rare Diseases - Translating Basic Biology to Enhanced Patient Care

Project Titles (nine teams):

Developing a Canadian framework for evaluation and decision-making for expensive drugs for rare diseases through innovation, value, and priority setting
CIHR:  $1,466,018

Developing Effective Policies for Managing Technologies for Rare Diseases
CIHR: $1,450,166

Emerging team in rare diseases: Achieving the "triple aim" for inborn errors of metabolism
CIHR: $1,490,492

Emerging Team: The Scleroderma Patient-centered Intervention Network
CIHR: $1,499,765

The FACTs Project: Fabry disease Clinical research and Therapeutics
CIHR: $2,450,000
Kidney Foundation of Canada: $50,000

New emerging team on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): From models to treatment strategies
CIHR: $1,250,000
Ataxia of Charlevoix-Saguenay Foundation: $1,250,000

Chronic childhood vasculitis: Characterizing the individual rare diseases to improve patient outcomes
CIHR: $2,375,000
Canadian Organization for Rare Disorders: $125,000

Choroideremia: Expanding our understanding, exploring treatments
CIHR: $930,305
The Choroideremia Research Foundation Canada: $125,000
The Foundation Fighting Blindness: $300,000 

Emerging Team to identify and characterize novel and existing Hereditary Spastic Paraplegia (HSP) disease genes
CIHR: $2,498,718

Total CIHR Funding: $15,410,464 over five years, primarily through the Institute of Genetics and the Institute of Nutrition, Metabolism, and Diabetes.

Total Partner Funding: $1,850,000 over five years.

• Ataxia of Charlevoix-Saguenay Foundation: $1,250,000
• Canadian Organization for Rare Disorders: $125,000
• The Choroideremia Research Foundation Canada: $125,000
• The Foundation Fighting Blindness: $300,000
• Kidney Foundation of Canada: $50,000

Description:
A rare disease is defined as one that affects one person out of 2,000 (or fewer).  There are over 7,000 known rare diseases, which affect an estimated one in twelve Canadians.

Patients with a rare disease face significant challenges, ranging from a correct diagnosis to the availability of treatment and care. In addition, rare diseases pose challenges for effective health policy and service delivery, with uncertainty about approaches to product regulation, assessment and coverage decision making, as well as the organization of care for complex and poorly understood needs. Research is required to address these multi-faceted challenges.

CIHR is supporting nine interdisciplinary research teams to address these issues.  There are two types of teams being funded:

• Teams focused on the basic biology, and/or undertaking clinical research, and/or conducting research on the populations affected by the rare disease; and
• Teams focused on health services, policy, economics and/or ethical, legal or social issues related to rare diseases.

About the Canadian Institutes of Health Research (CIHR):
CIHR is the Government of Canada's health research investment agency. CIHR's mission is to create new scientific knowledge and to enable its translation into improved health, more effective health services and products, and a strengthened Canadian health care system. Composed of 13 Institutes, CIHR provides leadership and support to more than 14,100 health researchers and trainees across Canada.

About the CIHR Institute of Genetics (IG):
IG supports research on the human genome and in all aspects of genetics, basic biochemistry, and cell biology related to human health and disease, including the interaction of genes with physical and social environments.

About the CIHR Institute of Nutrition, Metabolism, and Diabetes (INMD):
INMD supports research to enhance health in relation to diet, digestion, excretion, and metabolism.  INMD also supports research that address the causes, prevention, screening, diagnosis, treatment, support systems, and palliation of a wide range of conditions and problems associated with hormone, digestive system, kidney, and liver function.

For further information:

Cailin Rodgers, Office of the Honourable Leona Aglukkaq, 613-957-0200
David Coulombe, Media Relations, Canadian Institutes of Health Research, 613-941-4563
Durhane Wong-Rieger, President, Canadian Organization for Rare Disorders, 416-969-7435