Kingston General Hospital physicians Drs. Paula James and David Lillicrap were named Researchers of the Year by the National Hemophilia Foundation in Chicago for their work in helping to improve the lives of patients living with bleeding disorders.
The U.S. organization says it chose the pair for their ongoing clinical, translational and basic studies of two inherited bleeding disorders, hemophilia and von Willebrand disease. Both conditions prevent the blood from clotting, causing abnormal bleeding.
"It’s an important recognition of the good things that are happening here at KGH and Queen’s University," says Dr. Lillicrap. "The things we’re doing will impact the quality of diagnosis and quality of life and treatment of these patients.”
Dr. Lillicrap says the mix of basic and clinical research being carried out here is unique in Canada and well known around the world.
"All of our research focuses on improving peoples lives," says Dr. James. "That means coming up with better diagnoses as well as a better understanding of the diseases so we can come up with better treatments, and perhaps even a cure."
Most of their patient-focused research is carried out in two places – the South Eastern Ontario Regional Inherited Bleeding Disorders Program at KGH and the Molecular Hemostasis Laboratory in the Richardson Laboratory building at Queen’s University. Drs. James and Lillicrap are co-directors of both.
In the lab setting, Dr. Lillicrap is leading a team of 20 researchers who are working on a potential cure for hemophilia using gene therapy. This cutting-edge science harnesses the power of viruses.
People suffering from inherited bleeding disorders have a mutant gene. Researchers hope to fix the problem by loading a normal version of the gene into a virus. The modified or disabled virus is then injected into the patient where it infects cells. But rather than damaging the cells it instead delivers a normal copy of the gene. From there, if all goes well, the cell will start making proteins from the now normal gene and the disease will be cured.
Dr. James’ research is focused on helping patients with von Willebrand disease, which is not as well known as hemophilia, but affects many more people. Dr. James estimates that while about 35,000 people in Canada probably have it, only 3,500 know.
"That’s because it causes milder symptoms, and the kind of symptoms it causes are things that people don’t often like to talk about, such as heavy menstrual cycles," she says. "A huge part of our research now is trying to improve and develop tools to help with the identification of affected patients."
One of those tools is a bleeding questionnaire that will ask people about what causes them to bleed, how long it lasts, and what it takes to finally stop it. The answers generated by this questionnaire should help more patients and primary care practitioners zero in on a diagnosis of von Willebrand disease if it’s present, so treatment can begin, says Dr. James.