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Expertise in hemophilia
The Gene and Cell Therapy group conducts its scientific research using hemophilia as a model. Although hemophilia is treatable among approximately 70 percent of its patients in the developed world, it impacts people of all nations and has no known cure. In patients whose immune systems reject treatment, alternative options are not only scarce but also difficult, expensive and invasive, while offering no guarantee of effectiveness. The goal of the Gene and Cell Therapy program is to discover innovative ways to permanently correct disease and induce tolerance to treatment for patients with hemophilia and other genetic disorders.
Answers to common questions about hemophilia and immune rejection.
Hemophilia is an X-linked genetic disorder that prevents the blood from clotting normally. People with hemophilia may experience excessive internal and external bleeding, which can be life-threatening.
Considered a rare disease, hemophilia affects approximately one in 5,000 male births worldwide. Hemophilia has no geographic or ethnic preference, but because it is an X-linked genetic disorder, the vast majority of people with hemophilia are male. Although females can have hemophilia, these instances are far fewer. More commonly, women are carriers of the disease.
In developed nations, hemophilia is most commonly treated with intravenous injections of replacement clotting factors. These injections may need to be administered up to three times a week, depending on the patient’s need.
In approximately one-third of patients treated for hemophilia, the immune system develops antibodies that reject the clotting factor proteins that have been introduced into the patient’s bloodstream. When a patient develops these antibodies, or inhibitors, the treatment is ineffective. Without effective treatment, internal and external bleeds can be life-threatening
Current immune tolerance induction methods are designed to reverse immune responses that have already been established. However, immune tolerance induction can be invasive, costly and difficult. Some patients are given a catheter for intravenous access and are administered high daily doses of proteins that support clotting. Although the mechanisms are not fully understood, tolerance is eventually induced by approximately 70 percent of these patients. Currently, there are no clinical protocols that prevent immune rejection.