We call blood the essential “life force” and blood donations the “gift of life.” But could research on a rare blood disorder save your life? It may already have. People with hemophilia, a rare bleeding disorder, have led researchers to many medical discoveries. In the 1980s, when many hemophiliacs became infected with HIV, it helped confirm that the virus was transmissible through blood. In the 90s, hemophilia research proved that a bioengineered product with no viral risk could control bleeding as well as “blood-based” factor. Today, synthetic blood factors are successfully used in surgery and on battlefields to save lives.

Treatments for rare blood disorders help all

Knowledge about rare blood disorders has benefited more common diseases. For example, sickle cell disease and thalassemia — both rare blood disorders — demonstrated that a single gene mutation offers a protective advantage against the malaria parasite, but two mutated genes lead to a life-threatening condition.

The identification of persons with (rare) inherited high cholesterol demonstrated a link between cholesterol and heart disease. The subsequent development of statins, a class of lipid-lowering medications, has saved millions of lives.

Revolutionary gene therapy: reality today

Canadian rare blood disease researchers and patients are involved in revolutionary gene therapies. In 2012, the European Medicines Agency approved the first medicine that delivers a gene into the body to correct a genetic deficiency. Patients with a rare lipid disorder were recently treated as part of a trial in Quebec. Last year, the EMA approved a gene therapy for children with an ultra-rare immune disorder caused by very low white blood cell counts. Canadian hemophilia patients participating in gene therapy trials are showing signs of a cure, which may allow them to avoid infusions altogether in the future. And Canadian researchers are participating in cellular therapy for acute lymphoblastic leukemia, which reprograms a patient’s own T cells to increase their ability to fight cancer.

The Canadian Organization for Rare Disorders calls upon all governments, industry, and other stakeholders to support Canada’s Rare Disease Strategy — a five-point comprehensive program for research, diagnosis, treatment, and support of all rare diseases.