Research teams to probe rare diseases with $17M funding

Ottawa, ON – The Canadian Institutes for Health Research (CIHR) has formed 9 new research teams that will focus on rare diseases. Funding from the CIHR will total $15.4 million over five years, primarily through the Institute of Genetics and the Institute of Nutrition, Metabolism, and Diabetes, while funding from partners will total an additional Total Partner Funding: $1.85 million, also over five years.

The overall objective 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. This team will conduct a clinical research trial involving gene therapy, with the ultimate goal of establishing an effective treatment for this disease. The 9 collaborative research teams will investigate a range of issues related to rare diseases, including basic biological science, health services, and policies.

Project titles and funding amounts are as follows:

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

“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.

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