Canadian vasculitis patients know that Dr. Kathy Siminovitch has been actively collecting DNA samples from all vasculitis patients, and conducting vasculitis genetic studies, over many years. In fact, we believe in the Spring of 2001, she initiated the world’s first study on the genetics of Granulomatosis with Polyangiitis (GPA) (Wegener’s).
Building on this work Dr. Siminovitch actively started collecting DNA samples from Behcet’s patients in the fall of 2014 with the goal of reaching a minimum of 100 samples before starting work on the genetics research. At about the same time Behcet’s Canada ( www.behcetscanada.com ), working together with Vasculitis Foundation Canada (VFC), began raising donations at VFC’s annual picnic and the “26 Reasons to walk”, an annual fundraising event to raise funds for vasculitis research. VFC is able to follow, and track, BC donations and is very pleased to announce that as of the 2019 year-end Behcet’s Canada’s fundraising efforts had raised just over $20,000.00 to financially support Dr. Siminovitch’s advanced Behcet’s genetics research. Coincidentally, during 2019, the number of collected Behcet’s DNA samples also pushed close to the minimum goal of 100 samples to justify starting this important Behcet’s research.
Once these two milestones were reached the VFC board, in collaboration with BC, agreed to fund Dr. Siminovitch the amount of $20,000.00, in early 2020, via the Toronto General & Western Hospital Foundation to advance the research of Behcet’s genetics. Dr. Siminovitch, Senior Investigator at the Samuel Lunenfeld Research Institute at Toronto’s Mount Sinai Hospital, continues to advance innovative research in Behcet’s, with the goal of finding new treatments for people living with the illness. To do so, Dr. Siminovitch and her colleagues are identifying and characterizing the genes that confer risk for Behcet’s; defining the mechanisms whereby certain proteins contribute to immune system function; and identifying new molecular pathways whereby such variants evoke cell dysfunction and disease.
Behcet’s disease is one of about 26 vasculitic diseases that causes inflammation of blood vessels, it is also considered an autoimmune disease. In Behcet’s this inflammation can occur in blood vessels of all sizes resulting in restricted blood flow that leads to the damage of vital organs and tissues. This damage can occur in any organ, including the brain, and spinal cord. Common symptoms affect the skin, eye, joints, and often causes painful skin ulcers, blood clots, stroke, vision loss and intestinal problems. Behcet’s is a chronic disease with periods of remission, often followed by relapses. Treatment usually consists of steroids and immunosuppressive drugs with long-term monitoring and follow-up.
Behcet’s is also considered a rare disease with accurate numbers of patients in Canada, and most other countries, not tracked, or readily available. The estimated prevalence varies widely with clusters along “the silk road”, and notably in Turkey. In Canada it is estimated there are, at a minimum, 350 patients although the actual total could be much higher.
DNA collections from Canadian, and American, Behcet’s patients are ongoing, patients can co-ordinate their blood draws in conjunction with their regular visits to the Toronto Vasculitis Clinic, LifeLabs locations (in ON, SK & BC only), or via mail-in DNA kits. Signed study consent forms are required for all participants.
Compete information on all vasculitis studies are listed here: https://vasculitis.ca/?p=578 For more information and to schedule lab work please contact Anna Park as follows:
Mount Sinai Hospital
60 Murray Street, Room 2-205
Phone: (416) 586-4800 x-5493