Rare diseases affect three million Canadians but get just a sliver of the country’s research dollars. A UBC geneticist hopes to change that with an innovative fundraising model
Dr. Millan Patel’s office at the Children’s & Women’s Health Centre of B.C. is a cozy clutter of files, bookcases, textbooks and folk art from Africa and Malaysia. Dim, wintery sunshine filters through a wood-framed window, illuminating the most striking object in the room: a rectangular whiteboard stretching almost to the ceiling and covered in skeins of red, blue and green letters, numbers, arrows and lines as cryptic as an Enigma code. These scribbles, Patel explains, represent the complex and myriad pathways underpinning a rare disease called Adams-Oliver syndrome.
One of only 120 medical geneticists in Canada, Patel is a clinician scientist, UBC professor and research director of the Rare Disease Foundation, an organization he co-founded in 2008. The purpose of the Vancouver-based foundation is to fund research into some of the most obscure, inexplicable and often deadly conditions thrown up by the human gene pool. Adams-Oliver is mystifying, causing numerous birth defects including loss of skin on the top of the head, limb defects, mottled skin and, sometimes, death in infancy. Today, one quarter of the world’s reported 400 cases participate in Patel’s ongoing research study.
Adams-Oliver syndrome is one of the world’s more than 7,000 rare diseases, which are usually inherited or caused by a genetic mutation and affect fewer than one in 2,000 people. These diseases sit on the sidelines of Canada’s multibillion-dollar health research sector—which pours money into the nation’s 50 dominant diseases, including heart disease, cancer, arthritis and diabetes—making it difficult to determine treatments let alone find a cure. Yet rare diseases have a significant impact on the health care system: while a specific disease may affect a mere handful of Canadians, Patel says the total number translates into one in 12 Canadians affected, or about three million people.
Patel—who cared for two patients with the syndrome early in his career, only to see them die—resolved to find new, effective therapies. To raise money to fund clinical treatments, Patel helps organize an annual fundraiser called Rare Finds, held this year at the Sheraton Vancouver Wall Centre on April 23. About $250,000 a year is elicited by the Vancouver event, its sister fundraiser Rare Finds Toronto, the local Lace-Up for Kids annual skate-a-thon, private donations and bake sales. The money raised is then distributed via a microgrant model—based on the work of 2006 Nobel Peace Prize winner Muhammad Yunus, whose microcredit lending program helped poor people with no collateral start and run their own businesses. If a physician encounters a rare disease that doesn’t respond to treatment, he or she can apply for a microgrant from the Rare Disease Foundation. The maximum amount is small—only $3,500—but it comes quickly: an application will receive a yea or nay within a matter of weeks, versus the many months waiting for approval from major granting bodies such as the Canadian Institutes of Health Research (CIHR), the Natural Sciences and Engineering Research Council of Canada (NSERC) and the Social Sciences and Humanities Research Council (SSHRC).
Dr. Diane Finegood, president and CEO of the Michael Smith Foundation for Health Research (MSFHR), oversees the distribution of millions of research dollars—about $450 million since 2001—with 90 per cent of it coming from the B.C. government. While she says that Patel’s microgrant model offers a “very innovative and interesting approach” to health-care funding, Finegood argues that it’s not applicable to conditions like heart disease and cancer, which cost billions of dollars every year in health-care costs and require commensurate research dollars, she says. But as far as Patel is concerned, the $3,500 microgrants are showing significant returns on investment.
“The people we see in our clinic—they capture our hearts, because they are hopeless and have no options and we just manage their symptoms,” Patel says. Microgrants allow “busy clinicians who normally don’t do research” to explore a novel idea to improve care, he says. A microgrant can provide sufficient money for special tests like whole-exome sequencing, which detects mutations that might identify it as a known rare disease. Or it can act as a pilot project, providing the evidence needed to secure a multimillion-dollar grant for a large, long-term project.
And Patel’s model is inspiring others. The pathology department at BC Children’s has also set up a microgrant initiative, while researchers from the U.S. and Europe have submitted applications. “My goal has always been to put ourselves out of business in 25 years. It’s enough time to change the system.”
Where the Dollars Go
In 2015, total health expenditures, both public and private, in Canada were an estimated $219.1 billion or $6,105 per person, according to the Canadian Institute for Health Information.
<1% of every public and private dollar spent on health care in Canada funds health and medical research, according to Research Canada, a health research advocacy group.
1.5% of public dollar funds is funnelled into research, says Research Canada.