Reminders

Research

Microgrant Program

Congratulations to all our 364 awardees to date in the microgrant competition! Click here to see summaries and videos about our funded projects.  The microgrant program is offered by the Rare Disease Foundation, the BC Children's Hospital Foundation, Global Genes and our generous donors and supporters. The next competition deadline is May 1, 2017. Click here to apply.

Currently, microgrants are only available to those who are, or have a collaborator, affiliated with either a Canadian institution or with one of the following list of non-Canadian institutions.  If you wish to have your institution added to this list, please see the guidlines here. For questions about the microgrant program, please contact our Research Coordinator, Dr. Kerstin Mueller at: research at rarediseasefoundation.org

Research Philosophy

The successful model of microfinance was applied to the problem of: How do we improve a situation where there are 7000 known rare diseases and many more undescribed diseases? The Rare Disease Foundation microgrant program provides a small amount of funding ($3500) that must accomplish a specific research goal and directly improve patient care.

Our applicants, who are usually on the front lines of rare disease care, choose problems that reflect their patients' priorities. They choose research problems that are solvable for today's patients and often address problems that are common to a number of different diseases. The small amount we provide fosters collaboration which leverages our funding and our low red tape approach enables productive collaborations to be formed with the best researchers anywhere in the world.

One of major problems we see with disease research today is the siloization of research activity. Each group of scientists has a very deep understanding of their area but surprisingly there is no easy way to move a project from one silo of expertise to another. A few disease specific organizations now take on the role of research champion, one who moves an investigation from one expert to the next in rapid fashion, but the bulk of rare diseases lack their champion. Rare Disease Foundation research programs are designed to find and fund research champions.

Translational Care

Translational Care circle for website.jpg

Providing therapy for a disease requires a set of activities that start with the patient (define the disease, its subtypes, its complications, the way it evolves), goes through a group of laboratory studies (find the cause, understand it, model it), then into drug development and ends up back at the patient with a trial of therapy. Since no therapy is ever perfect, this is a circle that repeats to promote better therapies over time. We call this cycle "Translational Care". The cycle involves translating clinical findings to the laboratory and vice versa with the objective of better care.

This cycle does not turn very well on its own so we identify research champions to crank the wheel of discovery, build bridges between silos of scientific expertise and deliver safe therapies back to patients as rapidly and efficiently as possible. The process can be sped up further if the pathway identified in step 4 already has approved therapies (or their side effects) that target it. In this case, a trial of therapy can be considered without traversing the entire circle.

The cycle takes an average of 44 years from first idea to drug trials in our system but our champions have turned the cycle in 4 to 9 years for 5 diseases and if the wave 4 shortcut is in play, treatment has been delivered 18 months to 3 years after the first patient visit for 9 diseases. We believe the Translational Care cycle is the best model for developing therapies for rare diseases and more quickly improving rare disease care for today's patients.

Microgrant Review

Click here to see summaries of our funded projects (2008-2016)

Number of microgrants: 364

Amount distributed: $1,251,123

Funded Institutions:
University of British Columbia
BC Children's Hospital
Simon Fraser University
University of Victoria
University of Alberta
University of Calgary
University of Lethbridge
University of Manitoba
York University
University of Western Ontario
University of Toronto
Hospital for Sick Children
McMaster Children's Hospital
Children's Hospital of Eastern Ontario
University of Ottawa
Université de Montréal
McGill University
Montreal Children's Hospital
Université de Sherbrooke
Université Laval
University of Washington
University of California, Los Angeles
University of Minnesota
University of Michigan
New York University Medical Center
University of Florida
Harvard University
Johns Hopkins University
Medical University of South Carolina
National University of Ireland - University College Dublin
University of Cambridge
University of Exeter
University of Manchester
University of Groeningen
Leiden University
AMC, University of Amsterdam
Lausanne University Hospital (CHUV)
 

Feedback

The Research Director is responsible for all content on this page. If you would like to make suggestions or provide feedback, please contact me: Dr. Millan Patel, mpatel at cw.bc.ca

Studies recruiting participants

The BC Centre for Palliative Care (BC CPC) is currently surveying members of the public in BC about their level of knowledge, awareness and experience of advance care planning.

 This information will help the BC CPC in the planning and evaluation of our advance care planning initiative, which is sponsored by the BC Ministry of Health. The goal of the initiative is to promote person-centred care throughout our healthcare system, through public and healthcare provider education activities and targeted improvements in the health system. The survey will take about 5 minutes of your time. No personal identifying information will be collected.

 Start the survey now: https://survey.ubc.ca/surveys/bccpc/public-survey/

 If you have any questions or concerns about this questionnaire, please do not hesitate to contact the survey coordinator, Amber Husband (ahusband@bc-cpc.ca) or the Evaluation Lead, Eman Hassan (ehassan@bc-cpc.ca) or by telephone (604 553 4866).

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Enhanced CARE for RARE Genetic Diseases in Canada – Your opinion about whole exome sequencing for diagnosing rare genetic diseases

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Searching for unregistered patients for the first international Canavan Paitent Registry! In just 12 days some 65 of the estimated total population of 300 have now been reached and registered into the database. It adheres strictly to all HIPAA regulations and is a safe, private place to keep patient data. Patients retain ownership of their information and have options for whether they prefer to be contacted or not...leading researchers working on clinical applications for Canavan disease enthusiastically support the international registry and are helping with the effort. It is critical to advancing their work and will be the primary place where research teams, newly diagnosed families and investors go to look for the incidence and prevalence of Canavan disease worldwide. 

For more information, visit canavanresearch.org, phone Ilyce Randell toll-free at (800) 833-2194 or email her at Ilyce@canavanresearch.org.

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A natural history study in patients with Alport Syndrome, a rare genetic kidney disease and we’re looking for new patients. Read More here....

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Experiences and Preferences of Patients with Rare Diseases

Reducing the risk for and impact of mental health problems amongst children/youth with 22q11 Deletion Syndrome (22q11DS): can genetic counselling for parents help?

A Phase III Multicenter Study of SBC-102 (sebelipase alfa) in patients with Lysosomal Acid Lipase (LAL) Deficiency

Examining the Unmet Health and Service Needs of Families of Children with Rare Diseases

Best Ethical Practices in Managing Uncertainty in Medical Diagnosis: An investigation of ethical principles applied to decision-making

Grants Available

Microgrants

Click here to apply 

1 in 12 (or 1 in 10)

The statistic of 1 in 12 (or 1 in 10) people being affected with a rare disease is often quoted but its basis is rarely explained. We believe the actual chance of someone being affected with a rare disease in their lifetime (called lifetime prevalence) cannot be determined as there are not enough people trained to diagnose rare diseases and some conditions are either too severe to be compatible with life or are quite mild so are missed. There are also a large number of rare diseases waiting to be described so any estimate is likely to be an underestimate. One could even say every disease is rare because the genome, environment and lived experience of each patient form a unique constellation. With these caveats in mind, we calculate the lifetime prevalence of rare diseases at between 1 in 12 and 1 in 13 by:

1. Summing the prevalences of the 500 most common rare diseases on the Orphanet prevalence report
2. Removing all birth defects from the list.
3. Adding the prevalence of major birth defects and intellectual disability in the population (5%, range for this estimate is 2.3% to 6%).
 
Many people tell us they do not think that 1 out of every 12 people they know has a rare disease. We believe our estimate does not match common experience because a lot of children with rare diseases do not survive and because a lot of people who have rare diseases look completely normal to the outside observer.            MP/2014

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