We Have an Innovative Approach
The Rare Disease Foundation is focused on linking basic science and clinical practice to increase the efficiency of rare disease research. This model is called Translational Care. This model drives patient based, treatment focussed research projects from disease characterization to treatment with greater efficiency. By incorporating research, astute clinician observation and patient and family knowledge into the various stages of rare disease research we impact the speed of discovery and the way rare conditions are managed.
Vision - updated July 2016
Revolutionizing rare disease care
Mission - updated July 2016
To create communities of patients, caregivers, health care providers, researchers & supporters, that work together to transform the lives of those living with rare disease
Our Values - updated July 2016
- We are focused on the best interest of our community
- We take pride in being nimble, agile and efficient
- Our approach is disruptive of the status quo and our work is transformative
- We create community, a sense of belonging, and receive and empower the disenfranchised through mutual respect and acceptance without regard for differences of any kind
- We create hope and empower
- We celebrate resiliency of the community we serve
- We are collaborative and connected
2016 - 2019 Strategy - updated July 2016
Full strategy document available here.
- Grow and nurture our Peer 2 Peer (P2P) Resource Groups to become the go to representative for RD families
- Develop efficient and robust infrastructure
- Enhance online communication and marketing identity and capacity
- Develop consistent, reliable and scalable funding streams for our programs, research and operations
- Increase awareness and engagement of the Foundation within the healthcare trainee and provider community
- Develop a rare disease research program identity
What is a Rare Disease? How Many Canadians Have a Rare Disease?
A rare disease is defined as a condition affecting fewer than 1 in 2000 people. There are more than 7000 diagnosed rare diseases and many more undiagnosed diseases. About 1 in 12 people (nearly three million Canadians) have a rare disease. Most known rare disorders are severe and chronic, with many being degenerative and life threatening. Rare diseases are poorly characterized so many conditions remain unamed. People who do not have a specific diagnosis can be denied access to necessary medical support services.
What We Do
As part of our Research Focused Initiatives, the foundation has developed a Microgrant Program that kick starts research on patient focused projects for rare, under-studied diseases. As a compliment to research activities, the organization developed Parent Support Initiatives to foster the organization and empowerment of the rare disease community. The Parent2Parent Resource Network is a group of local forums for cross-disease information sharing and social support. The group provides a means of organizing families for mutual support, mentoring and knowledge sharing regardless of their diagnosis. The community can then undertake educational outreach and advocacy issues relevant to a wide spectrum of rare diseases.
Why Traditional Research Grants are Limited in Effectiveness for Rare Disease Research
Financial and administrative barriers deter physicians, clinician scientists and scientists from submitting funding requests for small patient markets. By definition rare diseases mean there are very few subjects and sadly those subjects often die before further characterization of the disease or condition can be centralized for research purposes. Standardized drug trials require a certain number of subjects for a specified length of time.
Due to the small patient market of a rare disease population, there are limited drug discovery initiatives funded by pharmaceutical companies. Therapies may be available but are not distributed or developed further due to the limited demand. Many rare diseases can benefit from the re-purposing of traditional drug therapies used for other conditions, however much research needs to be done before approval can be given for re-purposing. A Microgrant would fund the initial stages of this type of study.
Increasingly narrow areas of medical expertise are a requisite of many granting agencies. The funds are provided based on very restricted parameters. Governments want doctors to spend grants to study the project as detailed in the application. If, during the course of research, an interesting discovery is made that requires investigation outside of the mandated parameters then the discovery cannot be pursued until another grant is obtained. Since there are many more grant applications than funds available, value judgements are often made as to which grant will help the most number of people, and those are then funded. This makes it very difficult to obtain funding for care-focused research on a rare disease.
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