Medical Genetics: Treatment with Gene and Enzyme Replacement Therapy
Researchers are working on ways to treat genetic conditions. Two ways that have been
shown to work are gene therapy and enzyme replacement therapy.
How does gene therapy work?
Gene therapy is a way to change the genes a person has. The therapy is done by inserting
a normal gene that a person is missing, or replacing a gene that is defective in some
An example of this type of therapy is for severe combined immunodeficiency disease
(SCID). This is a very rare, life-threatening disease that a child may be born with.
SCID causes a child to have very little or no immune system. This means he or she
can’t fight normal infections. SCID is also known as the "boy in the bubble" syndrome.
Living in a normal environment can cause death to a child with SCID. About 1 in 50,000
to 100,000 children is born with this disease.
Gene therapy for SCID is done by taking the child’s blood and putting the normal gene
into the blood cells. The child is then given a blood transfusion with his or her
own blood that has the normal gene inserted. The gene then works itself into the immune
system and lessens the symptoms of the disorder. Gene therapy is currently being tested
to treat several genetic conditions. But it is generally available only in clinical
trials. Talk with your child’s healthcare provider about how to enroll your child
in a clinical trial.
How does enzyme replacement therapy (ERT) work?
Enzymes help cause chemical reactions in the body. Some health conditions are caused
by problems with the gene for an enzyme. One way to treat a genetic condition is to
replace the enzyme.
An example of this type of therapy is for Gaucher disease. People with Gaucher disease
have too much of a chemical called glucocerebroside. This is because of a lack of
the enzyme glucocerebrosidase. This causes cells to form "Gaucher cells." Gaucher
cells grow in place of healthy cells in bone marrow. This causes a large liver and
spleen, loss of organ function, and weakening of the bones.
ERT has been used to treat Gaucher disease to reverse the symptoms and improve the
quality of life. ERT is a lifelong treatment. Stopping the treatment will cause the
health problems to come back. A person getting this treatment must be under the care
of a healthcare provider. This is to monitor the treatment for any adverse reactions
and to change the dose as needed.
Talking with your healthcare provider
If you or your child has a genetic disorder, talk with your healthcare provider about
whether these types of treatment may help.