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

[ Press Release 2012-11 ]

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.