One in twelve individuals in Canada has been diagnosed with a "rare" disease. This class of disorders is defined as those that affect fewer than 1 in 2,000 people. However, there are more than 7,000 such rare diseases that, taken together, affect nearly three million Canadians.

These diseases are:

• Often inherited based on genetic changes
• Affecting the most vulnerable population of all, our children
• Severe and chronic, with many being degenerative and life-threatening
• Poorly characterized; many remain unnamed

For a searchable directory that lists nearly all of the known rare diseases click here.

• Health care and social support services are designed for patients with common diseases
• Lack of a diagnosis can result in patients and families being denied necessary services in hospitals, schools and the community
• Patients with rare and undiagnosed disorders require coordination of multiple specialists
• Limited research into rare disorders provides limited hope
• Due to the small market size, there are limited drug discovery initiatives by pharmaceutical companies when therapeutic targets are known
• Supportive organizations specific to each rare disease often do not exist, and those that do exist have geographically widespread membership that cannot provide advice on local issues

The Rare Disease Foundation is comprised of parents, clinicians, volunteers and researchers who are united in their desire to transform the world of rare disease care. Through facilitating communications between expert researchers, our organization can efficiently unlock solutions that will directly improve the lives of children and families affected by rare and undiagnosed diseases. In addition, the Rare Disease Foundation has developed a microgrant program that kickstarts research on patient-focused projects for these understudied diseases. To compliment research activities, the Rare Disease Foundation Parents' Group has been initiated as a forum for cross-disease information sharing and social support. This group allows for educational outreach and advocacy activities on issues relevant to a wide spectrum of rare diseases. This multifaceted approach enables the Rare Disease Foundation to provide care for today, while providing hope for the future. Through our initiatives we endeavor to:

• Perform treatment-focused research into rare diseases
• Provide research grants to directly improve patient care
• Foster the organization of the rare disease community
• Organize families for mutual support regardless of diagnosis
• Advocate to enhance care for those affected by rare diseases
• Build infrastructure to ensure the sustainability of our programs

Transforming the world of rare disease care

Researchers, caregivers and families working together to find solutions for children and families affected by rare disease

The starting point for the Rare Disease Foundation was a group of several parents and two doctors in Vancouver, Canada who began to envision a means of finding more answers for patients with rare or undiagnosed diseases. It had become increasingly difficult for interested physicians and clinician-scientists to pursue potentially life-changing research because of financial and administrative barriers. This is especially important when it comes to rare diseases because pre-existing treatments are almost never available based on the unique nature of these disorders. For these children, research IS care. In 2007, we developed a new model for linking basic science and clinical practice to increase the efficiency of rare disease research - we call it Translational Care. This collaborative model drives patient-based, treatment-focused research projects from disease characterization to treatment with greater efficiency.

The Rare Disease Foundation became a non-profit organization in February 2008. In March 2008, the concept of a cross-disease support network for the rare disease community was developed. Through organizing meetings attended by families of affected children, we have been able to complement research projects performed in the lab with social support that is inclusive of diversity.

Following the initiation of our parents' support group, the Rare Disease Foundation sought to refine its strategic plan to ensure sustainability and community-responsiveness, as well as identify prospective partnerships. In July 2008, we hosted a Peter Wall Institute for Advanced Studies Theme Development Workshop to discuss our concept with ethicists, communications experts, life sciences researchers, clinicians, sociologists, families, anthropologists and social organizers. Subsequently, we met with representatives from several biotechnology firms, the US Food and Drug Administration and the European Medicines Agency's Orphan Drug Offices to solicit feedback. In August 2008, we met with Genome BC to develop overlapping goals and the potential for partnerships. We also initiated partnerships with the Michael Smith Genome Sciences Centre, Child & Family Research Institute, BC Children's Hospital Foundation, Partners in Care and others.

In December 2008, the Rare Disease Foundation held its first microgrant competition to fund research projects focused on bringing about improved patient care. This program is administered with the help and support of the BC Children's Hospital Foundation and is now national in scope. It has been met with great enthusiasm by researchers and physician-scientists who finally have a way to put their best ideas about rare diseases to work. The program is run twice a year and we anticipate one day being able to review microgrant applications on an ongoing basis to avoid delays in this critical work. Current and past projects can be found in the Research section of this site.

In February 2009 the Rare Disease Foundation officially became a charity. A number of wonderful people have played very important roles in starting our organization and developing its programs. Past Board members who have given extensively of their time and energy include: Neal Boerkoel, Tamara Taggart, Barb McGillivray, Mehdi Kurtagich and Judy Hall. The energetic and brilliant Ryan Walton was instrumental in our establishment and in starting and managing our online social network. Our organization's early days were supported by and our microgrant program continues to be supported by the hard work of many good people at the BC Children's Hospital Foundation and the Child and Family Research Institute. The sheer generosity and wonderful creativity of Sally Douglas and the good people at Kaldor (Jen, Ginger and the gang) have been astonishing. We have much gratitude for Angela and Ted Longstaffe who have been unwavering in their support. UBC Rec helped us a great deal with early fundraising through their Lace Up for Kids events. The Canadian Tay Sachs and Related Disorders Organization provided generous establishment funding for our family psychosocial support program. Important fundraising partners include Suman Bakshi, who manages the Diamond Race, and mCentred. Debbie Bertanjoli, Jen Orth and Ruby Smith have provided us with awesome graphic design support over the years. A special thanks goes to Rosemarie Rupps, Kirsten Harkins, Marion Thomas, JoAnne O'Connor, Dawn Patel, Christele du Souich, Caitlin Brenchley, Susan Creighton and all our wonderfully generous volunteers who have been the force that allowed us to flourish and have a lot of fun along the way!