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Porphyria Educational Services

Porphyria Educational Services Bulletin Vol. 2 No. 34 August 27, 2000
FOCUS: Gene therapy: The promise for porphyria?

As acute hepatic porphyria patients still struggle with getting their correct diagnosis, the ones with a diagnosis still struggle with obtaining timely and effective preventive therapy. Some still struggle with only delayed intervention therapy.

There are to be exact, the undiagnosed, the misdiagnosed, the underdiagnosed, and then the lucky ones with confirmed diagnosis. Often such confirmed diagnosis comes from undergoing DNA testing, because of repeated compromised basic urine and stool testings.

The promise of gene therapy, has gone for the most part unfulfilled due to the fact that the microbial delivery agents used to insert the genes of choice into the compromised mutated cells, have not been able to be perfected in order to fulfill their role.

Gene therapy, is the medical technique of the future in which the replacement of dysfunctional genes with good working ones.

In medical research, the medical scientists have focused on the use of viruses as ideal vectors in which to deliver genes to needy suffering patients. In porphyria such research is still being tested with plants. One of the leading researcher in this area is Dr. Nicholas Jacobs of Dartmouth.

Currently within other more common diseases, medical scientists have taken these ideals vectors and used them to deliver genes to patients because these microbes insert their genome into a host cell. But the researcheers have found that agents have proved themselves less than perfect.

For instance, with some viruses, it can be very costly to prepare and to store. With some viruses that medical researchers have partially disabled, they find that they sometimes replicate. When this happens the microbes can find unwanted attention from a patient's immune system.

Many medical scientists are currently treating mice with these procedures. Can you imagine a replication of porphyria in a mouse? Hopefully from such research a big breakthrough will come forth. With a success in gene therapy, porphyria patients could someday undergo such therapy and forget undergoing iv infusions of glucose or panhematin or even the heme arginate which is still not available to those in the United States.

Porphyria DNA mapping has made giant gains and each type of porphyria is now fairly well established. Much of this work has been accomplished by Dr. Robert J. Desnick and his associates at Mt. Sinai Medical School in New York.

Robert Johnson, MD Guest Columnist