Porphyria Educational Services
PORPHYRIA EDUCATIONAL SERVICES
BULLETIN
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