Hemophilia is a bleeding disorder, which means your blood does not clot in case of bleeding. The disease is caused by missing or having a defected factor VIII which is a protein responsible for clotting. Usually the affected gene is passed down from parents to children, however 33% of cases are caused by a spontaneous mutation in the gene.
Since hemophilia is an X chromosome linked recessive disease, females are rarely suffering from it.
The aim of gene transfer would be to replace the defected gene sequence with a corrected version which would eliminate the disease for the lifetime of the patient. In theory this would be an ideal treatment for the disease, however practically this method needs further trial.
There has been progress in the development of this cure. Microscopic viruses are genetically engineered and used as delivery vehicles, or “vectors.” Those vehicles are then injected with specific genetic instructions for the production of specific proteins at specific locations or for the generation of a particular change in the DNA of a stem cell, in order for its baby cells to carry these genetic instructions too. Gene therapy with a specific vector in animals showed long term expression of the relevant clotting factor (Factor VIII or Factor IX).
However therapeutic effect in further human trial was only temporary as clinical failures and high-profile safety catastrophes have prevented a safe cure from appearing on the market for the last 30 years.
Never the less there is still hope for gene therapy to become a successful safe cure, as many companies are conducting experiments and researching into this potential treatment.
Since hemophilia is an X chromosome linked recessive disease, females are rarely suffering from it.
The aim of gene transfer would be to replace the defected gene sequence with a corrected version which would eliminate the disease for the lifetime of the patient. In theory this would be an ideal treatment for the disease, however practically this method needs further trial.
There has been progress in the development of this cure. Microscopic viruses are genetically engineered and used as delivery vehicles, or “vectors.” Those vehicles are then injected with specific genetic instructions for the production of specific proteins at specific locations or for the generation of a particular change in the DNA of a stem cell, in order for its baby cells to carry these genetic instructions too. Gene therapy with a specific vector in animals showed long term expression of the relevant clotting factor (Factor VIII or Factor IX).
However therapeutic effect in further human trial was only temporary as clinical failures and high-profile safety catastrophes have prevented a safe cure from appearing on the market for the last 30 years.
Never the less there is still hope for gene therapy to become a successful safe cure, as many companies are conducting experiments and researching into this potential treatment.