'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

[MindStalker]

Yes, but wouldn't we already be "playing" god by allowing someone to live, and possibly breed, who genetically shouldn't make it past infancy?

Alter their germline or steralize them, going halfway is stupid.

Re:Important question

[Fizzl]

This is a stupid question probably. Answer has to be No...

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

"Get out of the gene pool you natures fumble!"

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]

From what I understand, this DNA is not spliced into the existing DNA strand, but rather is just "loose" in the cell.

Actually, this and all viral vectors used in gene therapy will integrate their payload DNA into a host chromosome, usually at a random point. This is necessary for the therapy to work: naked, non-chromosomal DNA will be quickly degraded by the cell, and will not be passed on when the cell divides. But it's also the major drawback of gene therapy - if the site at which the virus randomly integrates happens to be an oncogene or a tumor suppressor, you run the risk of causing cancer.

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.

Many forms of gene therapy currently in trials involve injecting live virus directly into the patient. For cystic fibrosis patients, for example, it's not practical to extract their lungs in order to perform gene therapy outside the body. :) But the virus that is injected is modified to be a one-shot virus. It can infect a host cell, once, to deliver its payload. But that host cell is incapable of creating live virus that can infect other cells. So there is no danger of the virus replicating out of control, or spreading around the population. And yes, this does require a *lot* of virions. :)

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.

Re:Important question

[pavon]

Thanks for the friendly corrections.

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

[Doc Ruby]

Sorry for the lack of "irony" clues. See how stupid that "god's will" crap looks in public?

Re:Playing God

[thebatlab]

Well, there were some slight sarcasm clues but no irony ones. It's always tough to be sure if people are being sarcastic or not...

Re:Playing God

[randomblast]

I get your irony, and you're exactly right.
The Bible says that it's God's will that none should perish. Dunno about you, but I define dying of Cancer as perishing.
So, yeah... whenever you hear somebody say that, slap them hard and tell them to read...

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.

Re:Playing God

[Doc Ruby]

I'm glad that all our greatest doctors spent enough time praying during medical school, instead of wasting their time with all those other books.

Re:Playing God

[G33kboy]

A woman's house was flooding, so she climbed up onto the roof. The sherrif came by and offered to throw her a rope, but she said "no thanks, God will look out for me." A while later a rescue boat came by, but she refused their help, too. Finally a helicopter came out to her rescue, but she told them the same thing--she would wait for God to save her. Since the woman refused to get in the basket the rising flood waters finally washed her away and she was drowned. When she reached heaven, she said "God, I was always faithful to you--why didn't you save me from the flood?" God replied "I sent you the Sherrif, a boat, and a helicopter--what more did you want?"

Re:Playing God

[Doc Ruby]

Russian proverb: "Pray to god, and keep rowing to shore."

Re:Playing God

[joelsplace]

I'm a Christian and I'm not sure what "god" Doc Ruby believes in but the God of the Bible is not thwarted by anyone. He is in control and if He did not give the doctors the ability to cure Bubble Boy allow it to happen it would not. Give us a verse that supports that God could be thwarted or that the doctors are playing God or going against His will.

Re:Playing God

[Doc Ruby]

God is thwarted by the pretensions of humans. God made me post that crack!

Re:Playing God

[joelsplace]

Maybe you've heard of Nebuchadnezzar? Remember what happened to him when He decided that he could thwart God?

Re:Playing God

[Doc Ruby]

Remember? I dunno, nice story. Must be true - everybody repeats it. And it's written in a book. With an invisible monster setting everyone up to hate each other. A book that has guided many thousands of people to their deaths. Whatever this god is, it's got a lot to answer for. Worship whatever you want. Just don't expect me to take it seriously, except when it contributes to the ignorance and other human afflictions that are threatening us more each day - usually in the name of this imaginary creature.

Re:Playing God

[joelsplace]

How could someone thwart God's plan if he doesn't exist? I guess the plan must have evolved from nothing just like computer chips evolve out of sand. I find Pentium 12s down at the beach all the time. I guess no one knows how to use them yet so we're all stuck with old P4s.

Re:Playing God

[Doc Ruby]

The bogeyman's plans to eat me are thwarted by the ease with which I don't believe in him. The tooth fairy's plans to buy my lost teeth are thwarted by my knowing grin. God evolved out of those ignorant, childish fantasies the same way chips evolve out of sand: people made them all, and the credulous believed that they "just happened". Their plans to tell me the universe "just happens" are thwarted by my personal experience making these things happen - and I'm no god. I'm "just" a man, and that's about as good as it gets, as far as "omnipotent, omniscient creator goes". Except in the fantasies some humans create.

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.

Re:Other trials were shut down (reformatted!)

[k98sven]

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.

But is it known if it is the virus that caused this, or the gene the virus was inserting?

Re:Other trials were shut down (reformatted!)

[John Newman]

But is it known if it is the virus that caused this, or the gene the virus was inserting?

Both. Let's back up a bit. Oncogenes are normal genes that have normal functions in your body, usually to promote growth. If they become corrupted, for example by mutation, they might become hyperactive, or incapable of being turned off. "Promote growth" then becomes "promote cancer". The virus inserted itself right next to one of these oncogenes. By doing so, it disrupted the normal regulation fo that oncogene, causing it to be expressed at a much higher rate. The now hyperactive oncogene began turning that cell into a cancer cell. The cell (actually it's decendants) had to accumulate a bunch of other mutations before it became a full-blown cancer, but the activation of the oncogene by the virus was the initial trigger.

Re:Other trials were shut down (reformatted!)

[k98sven]

But in that case, wouldn't the virus also be able to cause cancer in normal circumstances too?

From what I understand, most viruses doesn't normally cause cancer when inserting their DNA into a cell. Now, if you change the DNA it inserts, and it suddenly causes cancer.. it seems to me that the 'blame' would have to be put on the DNA sequence or the interaction of it and the virus, but not on the virus itself?

Re:Gene therapy

[Lord Kano]

We don't need gene therapy. Let God decide who lives and dies. Courtesy your current Bush Administration.

Well, Bush's funding of research with embryonic stem cells has no effect on this. The stem cells were acquired in an ethical manner.

• cured by transforming bone marrow stem cells with the functioning gene.
• 
  
  Be glad I have no mod points today. Troll.
  
  LK

You're digging your own graves Europe!

[Anita Coney]

Luckily our overlord W has rid ourselves from godless science. We may die of diseases, but we'll live forever in Heaven!

Spirit says finish your homework

[tepples]

Med student prays for guidance. In response, the Spirit motivates the med student to finish her homework.

Re:Spirit says finish your homework

[Doc Ruby]

Other med student gets right to the books. Later, I get to choose which one operates on me: the one with faith in science, the other with faith in afterlife, god's mysterious ways, deliverance through prayer. Give me the science-worshipper.