'Bubble Boy' Cured by Gene Therapy in UK

DrKyle writes "Another child with "Bubble Boy" disease aka ADA-SCID (adenosine deaminase deficiency causing severe combined immunodeficiency) has been cured by transforming bone marrow stem cells with the functioning gene. Normally toxic levels of adenosine build up in T-cells killing off those important cells required for a robust immune system. While not the first person cured, another successful case of gene therapy goes a long way in encouraging goverments to continue to fund genetic research."

Comments

Moops surrenders....

[TeleoMan]

Seinfeld obligatory ref. My apoogies in advance to the thousands of history-illiterate bubble-men and women out there.

I'm sorry...

[d_p]

...the answer is "Moops".

Important question

[fsck!]

Do people that undergo gene therapy pass the modified genes onto the next generation?

Re:Important question

[Kraemahz]

See: Gene Therapy
Specifically this line:
"In theory it is possible to transform either somatic cells (most cells of the body) or cells of the germline (such as stem cells, sperm and eggs). All gene therapy so far in people has been directed at somatic cells, whereas germline engineering in humans remains only a highly controversial prospect. For the introduced gene to be transmitted normally to offspring, it needs not only to inserted into the cell, but also to be incorporated into the chromosomes by genetic recombination."

In order for the altered genes to be passed on the germline would have to be involved in the gene therapy process, which is considered making "designer humans" and thus frowned upon by biological conservatives (read: ethicists).

Re:Important question

[Doc Ruby]

Wasn't your mother "playing god" by allowint your monkey body to live, and possibly breed, who genetically shouldn't make it past infancy, unable to feed yourself? Self-sufficient monkey or death - going halfway is stupid.

Re:Important question

[Jackazz]

What he means to say is, NO. In this case the bone marrow was removed, altered, and re-injected into the patient. The gene alteration was not systemic, did not effect the boy's sperm progenitor cells, and will not get passed on to his offspring.

I'm not sure, but I bet this is a very rare gene and a recessive trait and if he mates with a normal individual, he will probably have normal children anyway.

Re:Important question

[pavon]

To elaborate on what Kraemahz said, the method used in this procedure (and in most cases) does not change the DNA of existing cells while in the body. It just inserts cells with different DNA, that then reproduce. If you inserted bone marrow cells, then the only cells with the different DNA will be more bone marrow cells, and since bone marrow cells take no place in reproduction, the DNA will not be passed on to offspring.

The way it words is that a small number of cells are extracted, and DNA is inserted into those cells using a virus. Viruses are just nature's DNA inserting machines, which usually insert DNA that contains instructions to replicate themselves (which the host cell carries out to it's demise), but in this case just inserts the payload DNA of the the scientists choice. From what I understand, this DNA is not spliced into the existing DNA strand, but rather is just "loose" in the cell. The bio-mechanics of the cell make no differentiation between it and the original strand, so both sets of instructions are carried out simultaneously. This modified cell is the one that is inserted into the patient.

Now if one was to introduce the carrier virus directly into the body, it could inject DNA into all sorts of cells in the body, possibly including the reproductive cells. In addition to being far more controversial, it is also less focused and controllable, and (unless there is a way to make replicating viruses that do not destroy the host cell) would require alot of viri, so in general it is not done.

Re:Important question

[John Newman]

So, does the saved kid pass on the original deficiency in the gene pool?

He passes on the gene, but not the disease. This form of SCID is a recessive disorder - you need two bad copies of the gene to get this disease. The alleles that cause disease are quite rare, and this kid won the reverse-lottery by having two parents who happened to both be carriers *and* both gave him their bad copy. He will certainly pass the disease allele onto his children, but his children would only have the disease if their mother was a carrier *and* gave them her bad copy. The odds of that are vanishingly low, and can be reduced to zero by genetically screening the mother (and if she is a carrier, doing IVF and screening the embryos).

So there is little or no risk to his kids, and the "harm" done to the gene pool is minimal because the bad alleles are so rare anyway.

Playing God

[Doc Ruby]

It's GOD'S WILL that Bubble Boy live a short, tortured life. Governments have no business stealing the money of the safely faithful to prop up the doctors, diabolically playing god, who thwart GOD'S WILL with these blasphemies. Doctors can go to hell with Bubble Boy, but they can't take us with them, dragged by our tax forms!

Re:Playing God

[thebatlab]

Not sure if you were being funny or real but...why is it assumed that it's god's will to have people lead these short tortured live's but not his will to give us the ability to cure them?

Re:Playing God

[BeatlesForum.com]

I'm a Christian and I completely believe that doctors on this earth are provided God-given abilities to find treatments and cures. I'm glad that Bubble Boy has been cured. Praise the Lord.

Disasters and disease can come upon anyone on this earth - Christians, Moslems, Athiests, X-Box junkies, regular business men and business women, etc., and everyone else on this planet. We all fall into sickess at some point in our lives - but only because of Original Sin. But one day we'll receive glorified bodies that won't age, won't hurt and won't deteriorate by accepting Christ.

Other trials were shut down (reformatted!)

[rakarnik]

Three other trials using gene therapy to cure the same disease were shut down by the FDA just last week. Apparently, the "harmless virus" used in a French trial ended up causing cancer in two patients. TFA does not seem to mention these other trials.

Re:Other trials were shut down (reformatted!)

[k98sven]

Apparently, the "harmless virus" used in a French trial ended up causing cancer in two patients. TFA does not seem to mention these other trials.

Nonsense. How can you say that the virus caused the cancer? Nobody knows what caused the death and cancer related to this.

Yes the virus is harmless, that doesn't mean to say the treatement is safe. Noone involved in this would say that; it's an experimental form of treatment.

Re:Other trials were shut down (reformatted!)

[John Newman]

Nonsense. How can you say that the virus caused the cancer? Nobody knows what caused the death and cancer related to this.

The virus did cause the cancer. In at least one patient, they mapped the site of viral intergration and found that it activated a known oncogene. Unfortunately, this is a currently unavoidable risk* of gene therapy. You have to stick the new genes into the chromosomes for it to work, but if it goes in the wrong place, it could cause a cancer. However, it may well be a reasonable risk given the pre-therapy quality of life of these folks, and the fact that there are effective therapies for leukemias. That one patient whose intergation site was mapped was treated for the cancer, and, AFAIK, is still alive today.

* There are ways to target the site of integration (that's how you create "knock-out" mice), but they only work if you can remove the cells from the body first, culture them for some time, and put them back. We can't do that for blood stem cells quite yet, and it's obviously impossible to do that for things like brains, lungs, and bones.