to not understand it, but be really excited by genome/DNA sequencing?

[AyeAmarok]

I've probably not even called it the right thing!

But over the last few months I have heard on the news so many breakthroughs. By finding the 'fault' in their genome and repairing it.

One was for a hereditary eye condition that caused blindness being resolved.

One was the 3yo girl with leukemia.

One the other day about recurrent miscarriage (if they allow the editing of embryos).

Someone just mentioned on a thread about personalised assessments of what illnesses you are most at risk of and how to mitigate against them.

I really feel that the research into this is starting to get somewhere, and we're gaining momentum and we'll start seeing breakthroughs more and more frequently. Like we're really on the cusp of something amazing.

I don't even really know what DNA is in the physical sense - it's always portrayed as that twisted ladder, if you magnify a single cell enough, is that what you see?

Disclaimer: Not a scientist. My terminology is probably all wrong.

*And when a cell replicates, it has to transcribe the DNA into a new cell. Base for base.

It's no wonder mistakes are made.*

It's amazing how few mistakes are made! I trained as a life scientist but I now work in computing. I have seen it mooted (as a concept, I don't think anyone has implemented it yet) that DNA could be used for long term data storage. e.g. replacing hard drives / DVDs.

Actually, there has been more research on that than I thought:

en.wikipedia.org/wiki/DNA_digital_data_storage

It's slightly different because a bit is binary, whereas a base pair is quarternary (may not be the right phrase) - it has four different values as opposed to two for a bit. So, I think four base pairs could hold the same information as a byte.
Assuming there are approx 3 billion base pairs in the human genome, that's approx 715 megabytes.
I thought it would be more than that! Perhaps I've made a mistake somewhere.

No my calculation was right!

stackoverflow.com/questions/8954571/how-much-memory-would-be-required-to-store-human-dna

I'm a little "wow" and also "wtf". Also waves hello to MaidOfStars who I had a very interesting chat with once under a different username!

Please can I ask a very stupid basic question which will very much highlight my art degree background... Forgetting the ethics (which I'm guessing are vastly difficult) - will it get to the point (theoretically) where we could just hypospray someone (or something like that) and fix pre-existing conditions? Or is the goal/technology aiming to treat embryos before someone's born?

(Sorry if that's incredibly obvious to everyone else from the chat so far)

Kacie, obviously, I have no clue! And this isn't what you asked, as you said ethics aside.

But the ethics of 'fixing' a person who is 'here' vs embryos has been mentioned somewhere and having now slept on it, I don't really see the difference between treating someone's ails via genes, and treating someone via medication.

One argument may be the unintended consequences of knocking a gene out (or whatever the technical term is!), but medication also has unintended consequences too. So I think I'm okay with it (if and when they're able to do it).

Re. school science for whoever asked, I was approximately equally good in the sciences and the humanities/languages throughout high school up to GCSE, but I did make the decision that I was more interested in e.g. German and English Literature, and because of the way A-levels are set up (few subjects vs a broader approach - not sure I think that's a bad thing, but it has its disadvantages), I made the decision to drop science, which I was good at but which didn't excite me, for a combination of language/humanities that I felt made more sense together.

Then I went on to do an Arts subject at uni. Since then I've picked up Maths because I missed it terribly, and a couple of sciences, and got myself onto a sciency degree. I guess I just wanted to have it all.

Viruses can insert DNA into our genes. They're clever at doing that. If you insert the correct gene which makes the cells work correctly,you can basically get the virus (the vector) to insert the correct gene into the DNA.

Yes, they absolutely can! This is why the data from the 1000 genomes project is so useful - shows us (scientists) what we should be focusing on.

Similarly, you can load a virus with anti-cancer genes and infect a cancer with it to get rid of it (this is what I am doing at the moment in my job)

And a comment on 'fixing' genes.

If a mutation or error has been there from the start, it is in every single cell in your body, which makes it hard to fix (as you are unlikely to get a fixing virus into every cell....)

The dream is often ahead of the technology, but genome editing technology if a very exciting field

I don't even really know what DNA is in the physical sense - it's always portrayed as that twisted ladder, if you magnify a single cell enough, is that what you see?

Haven't read whole thread in detail, so sorry if already answered.

OP, no, you can't see the double helix, firstly because it is wrapped around a load of proteins, but mainly because the whole lot is in solution.

You can see chromosomes though, when cells are dividing, if you use the right sort of stain.

Yes, I suppose you'd have similar consent issues no matter what the type of treatment was. I've just tried replying in more detail but felt my head imploding a bit!

Fascinating stuff, thanks for starting the thread Aye.

Another genetic scientist here, and even I'm learning stuff from this thread!
Who knew there would turn out to be so many of us on MN?

Ego
The opportunities are really amazing.
For example, if someone has cancer, and you can identify a specific molecule that the cancer cells have on their surface then you can make a therapeutic against that molecule. You could also (more niche and very expensive) take out that person's white blood cells (T cells), put some DNA in to make them recognise the cancer, and put them back into the person. Once T cells recognise a cancer, they have a toxic effect on the cancer cells and can eventually clear the tumour. (Caveat, not always, but at least sometimes)
[this is what I do for my job. It is very exciting :)]

You are right about so many causes for cancer. It isn't one disease, it is many hundreds or thousands. But if we can find better treatment for even one kind, it is a step forward.

DS 6 was undiagnosed for 4.5 years and he has a rare gene mutation. Only 40 other kids with the same condition world wide!
It's bloody amazing !!!

YADNBU

I have a genetic condition that I have a 50% chance of passing on to any DC. It is a predisposition to cancer. Recent developments in genetic medicine mean that they can not only test for this condition in utero but have also enabled me to have pre implantation genetic testing on embryos created following an IVF cycle.

Even more amazingly, 3 healthy embryos tested negative for "my" gene, but they also tested for other chromosomal disorders and found that one of the 3 embryos had a defect in the 5th "limb" of its DNA and would have developed a life-limiting disability if pregnancy had gone to term. (Cri de chat syndrome). It blows my mind just thinking about it and I am of course massively grateful that I have two healthy frosties.

Out of curiosity!

If some scientist somewhere found the magical cure for cancer (or whatever) ... Would a corporation be able to just bury it? Wouldn't the wider scientific community have a hint of what had happened, and couldn't someone potentially just pass on the formula or something?

I'm not too sure how I feel about "big pharma has all the cures but is keeping them secret" - surely they have families who are affected by the conditions too? Or is that very very naive? (Probably!)

Kacie I'm pretty sure that if anyone had an actual cure, one of the big Pharmas would buy it, rush it through clinical trials, get it out on the market and experience the biggest Blockbuster drug ever known to mankind!

However since cancer comes in so many different forms, it is really like trying to cure thousands of different diseases. The most successful drugs hitting the market at the moment are only effective against one or two types. But watch this space as the oncology drug field is very lively at the moment.

Ego I think that is exactly what happened :)

Imagine if the volunteers on the clinical trial had been to shy to report that side effect....