Knowing the gene and knowing the mutations gives us the most important mechanism to diagnose the disease. One approach to treat genetic disorders is to supply the body with the protein it is missing. Genes direct the production of proteins and a faulty gene can produce a dysfunctional protein. If that protein is replaced it can allay the symptoms of the disease. We treat Gaucher's disease.
Enzymes enter the cells which are affected by the disease.
Thus, Tay Sachs still has no known treatment and all babies born with that disease are doomed to die within a few short years. Alternatively we can introduce the normal gene which will function and overcome the mutated gene. Unfortunately, gene therapy is a science which is still in its infancy, and scientists working in this field report only limited success with the approach. There have been hundreds of gene therapy trials at a medical research centers worldwide. However, none has yielded an effective cure for genetic disease.