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Porphyria Educational Services

Vol.2 No. 12                                                        March 19, 2000    
FOCUS:   Gene Therapy Unlocking Many Mysteries            

The cutting edge of much medical research today focuses on the field of gene therapy.  Researchers performing genetic research hope that one day it will lead to treatments and p[ossibly a cure for porphyrics.
          Currently porphyria persay has little genetic research being undertaken due to lack of funding.  Also more weel known medical conditions get more attention and  researchers tend to flock to those medical contions to help make a breakthrough.           However a few are working in the early stages of gene therapy research. One of these researchers is Dr. Nicholas Jacobs, at Dartmouth.  Dr. Jacobs is only working with the plant level of mutations currenty.  But it is a start in the right direction.            In time however gene therapy will evolve and bring hope for countless numbers of porphyrics.  Genetic research in the lab will intime be able to compliment the work of the medical clinician in the treatment of porphyrics.           There are many medical researchers working on various different aspects of porphyria and different porphyria types.  Lumitene  treatment for EPP type has evolved through the efforts of Dr. Michelene Mathews-Roth. Dr. Robert Desnick and Dr. Astrin continue DNA testing and study of AIP patients.  Dr. Frank who has now returned to his native Germany after research funding ran out, helped countless number of VP/HCP patients through DNA testing.           Dr. Martha Kreimer-Birnbaum has bee a leader in her research into  ALA metabolism in lead poisoning.   Moreover  her research has  allowed her to develop a method to detect carriers of HCP [hewreditary coproporphyria].           But the focal point for the future is that of gene therapy.  And what is this gene therapy?           Gene therapy starts with with the chromosome of which each of us have. It is athreadlike structure in every cell nucleaus that carries the inheritance factors. These are called genes.   It is these genes that, in essence, dictate our physical characteristics and traits.  One can compare these to the chips that dictate the functions of a computer.           Each gene is specific to one trait only, such as eye color. Each gene can be either dominant or recessive.  In some instances genes can be damaged or mutated leading to the inheritance of disease.  Hence the need for gene therapy.           The goal behind gene mapping as was carried out by Dr. Frank, is to locate the genes on the chromosones that cause these illnesses so that, through gene therapy or other directed intervention, they may be repaired.           Porphyria researchers would thus be working to identify exactly which gene in a region of each porphyric is responsible.           In gene therapy there are different delivery systems.  While each of the delivery methods has its advantages and disadvantages , the bottom line is to get the appropriate gene [therapy] into the tissue that your are interested in, in order to affect repair.           Before this can happen in the porphyric patient themselves it has to work in plants, and then laboratory animals, then human trials, and eventually met FDA approval use in humans on a regular basis.           Within this century it is entirely possible that we will no longer be looking at gene therapy in the plant model, or even the animal model.  We muist be hoepfull as porphyrics that it will be able to be tested in humans.  In speaking with a research bio-chemist, he shared with me the following:  "Indeed, the greatest breakthroughs and advancements in genetic understanding have occurred in the last decade and since the advent of DNA. No one 25 years ago would have agreed that we would get as far as we have come, and it has really been wonderful for me personally to be a part of it all."           Gene therapy is indeed unlocking many mysteries.  Hopefully we will have the answers and treatment arrive in our lifetimes.   Diana Deats-O'Reilly Porphyria Educational Services