For many generations, hemophilia has been deemed as an incurable chronic disease, which forces many people to learn to cope with it and hope for the best possible outcome. Today, thanks to gene therapy research focused on getting to the bottom of the gene mutation that results in hemophilia, new advances in management therapies are being developed quicker than ever, and the once impossible goal of finding a cure may now be on the horizon.
Progress in Hemophilia Research
Gene therapy has been a main player in hemophilia research due to the fact that the condition stems from a single gene defect. This type of therapy allows scientists to isolate the mutation and replace or manipulate it to correct the dysfunction (in this case, hemophilia) it creates in the body. Since this research is still in its developing stages, most of the trials have been exclusive to lab settings. However, the results so far have been promising and have researchers confidently looking forward to the clinical trials phase.
One of the most recent breakthroughs in hemophilia management therapies includes the manufacturing of factor products derived from plasma. Factor VII, or fucoidan, is a compound extracted from seaweed and works with the body’s anti-clotting properties. The compound is already a part of our everyday diet, thus significantly decreasing potential threats it may pose to the body’s immune system. Research is exploring the possibility of mass-producing Factor VII to create products that prevent bleeding. This type of “replacement therapy” helps to make hemophilia a more manageable condition, and can be compared to the role played by insulin in managing diabetes.
Challenges
One challenge currently facing hemophilia research is issues with inhibitors. Inhibitors are enzymes with the ability to create antibodies that actually work against manufactured factor products, thus defeating the purpose of their use. However, research scientists believe the solution involves creating a corrective gene, which would negate the problem. Simply put, a corrective gene would eliminate challenges presented by inhibitors by preventing the development of these interfering antibodies in the first place.
Another complication when it comes to gene therapy is derived from the fact that nearly one-third of all hemophilia cases are not inherited – they are caused by random genetic mutations. This makes it harder to pinpoint any one specific gene that may be dysfunctional. However, as research moves forward, so does the promise gene therapy brings when it comes to finding alternative therapies, and eventually, a cure for hemophilia.
For now, there are many options to be explored when considering one’s standard of living, and new breakthroughs are being made every day.
Sources:
Hemaware – A Cure for Hemophilia?: http://www.hemaware.org/story/cure-hemophilia
Hemaware – New Hemophilia Therapies: http://www.hemaware.org/research-treatment/hemophilia-a-b/new-hemophilia-therapies
Katherine D. Ponder – Gene Therapy for Hemophilia: http://dasher.wustl.edu/kathy/papers/curropinhem-13-301-06.pdf
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