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.

[SpecialStains]

YADNBU! It is hugely exciting the advances in genome sequencing, and how much cheaper and faster its getting.

[knobblyknee]

You can see DNA with the naked eye;

learn.genetics.utah.edu/content/labs/extraction/howto/

And theres a plant thats DNA is so large its very easy to extract and see, but I can't find a link about it.

Thought you might find that interesting

[AyeAmarok]

Glad someone else feels the same!

I mean, I was pretty excited about graphene and what they could do with that.

And I like the idea of 3D printers (they can print much cheaper prosthetic limbs, and I'm sure many more things).

Most other things I'm a bit Meh about.

But this! It totally blows my mind.

[Owllady]

I know, I think it's amazing :) I have a child with an undiagnosed condition and I'm hoping she can be put forward too!

[x2boys]

Ds has a deletion of genes on one of his chromosomes according to the geneticists it has likely to have caused his autism and learning disabilities so any breakthrough is interesting .

[DrDreReturns]

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?
By magnifying a human cell you would see the chromosomes - which are collections of lots of DNA. If you had a really powerful electron microscope you might be able to see the twisted ladder (aka double helix). The structure of DNA was discovered using a different technique though (X-ray crystallography).

[AyeAmarok]

I hope so Owl

That's interesting x2boys, I hadn't even considered that something like autism could have a physical genome angle too. Really interesting.

So many possibilities.

[AyeAmarok]

Thanks DrDre

And I take it that would be any cell, so hair, organ tissue, blood cells, even bone? So in every type of cell, this structure of DNA exists?

And if that's the case, do they need to "edit" every cell one at a time to remove the bit that it causing the problem? It always sounds (on the news) like they've just made one simple change.

[DrDreReturns]

Red blood cells don't contain DNA - but plenty of other cells in the blood do (white blood cells etc). Hair itself doesn't contain DNA, only the roots do. Bone marrow will contain DNA but not the actual bone.
My knowledge is out of date (did my degree twenty years ago) but I think it is impossible to change the genetic make up of every cell in your body. Perhaps these therapies use a more targeted approach? Different genes are turned on / off in different areas of your body.

[HormonalHeap]

I feel the same too- I have a hereditary condition which my dcs may or may not have inherited. It's a game changer isn't it? Completely fascinated.

[toffeeboffin]

Hugely exciting.

Don't understand, but it's very cool.

Any scientists around to explain/simplify?

[toffeeboffin]

'When I was young, it took days to sequence a few 100 bases of DNA (the sequence is bases - AGCTAGCCTA - etc. Now it takes a few hours to do 1000s. It's incredible

From what I understand, you can introduce genes through vectors that are then incorporated into areas - such as lung tissue for cystic fibrosis.

I.E. This ^

[Lonelynessie]

Yanbu. My bil who works in the field has told me of some of the things that are 100% possible (and have been actually done in labs to great success) and it's very exciting. I was astounded by some of the things he was explaining to me a few weeks ago that he himself has discovered and worked on, it's incredible. But, it's down to governments and big pharma to develop things, and quite often there are groundbreaking and life changing science that is blocked from being used, usually because of cost (as in big pharma will lose lots of money on other drugs by producing the cure).

[AyeAmarok]

My bil who works in the field has told me of some of the things that are 100% possible (and have been actually done in labs to great success) and it's very exciting. I was astounded by some of the things he was explaining to me a few weeks ago

Oooo, please share! Technical details entirely optional, layman's language of examples very welcome!

[AyeAmarok]

there are groundbreaking and life changing science that is blocked from being used, usually because of cost (as in big pharma will lose lots of money on other drugs by producing the cure).

I do not like this bit But it's the way of the world (of the powerful) I suppose.

I'd hope that Pharma would diversify to do this sort of work themselves, rather than try and shut it down. If they were brave enough.

[Dollymixtureyumyum]

Well they managed to bring back dinosaurs on Jurassic park, oh no wait a minute
Seriously though it's amazing to think what they will able to do in a few years, can't understand people who are against it and there are quite a few

[murmuration]

Yeah, they can use viruses to change just the cells they need to. All the cells have the same DNA, but it's only important in some - and you might not even need to change all of them, for example, if you wanted cells to make more of some missing molecule that gets put into blood or something, you'd just need some of the cells doing it, not every single one, as long as enough of it got into the blood.

[AyeAmarok]

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.

Amazing. Such a simple yet great idea to get the virus to work for you for good, rather than against you.

[x2boys]

So is it possible or could it be possible for chromosome, s to grow back the bit that's missing as in my son's case I have no idea of the science of this and it hurts my brain thinking about it

[redhat]

You can be tested for £125 which seems very cheap.

[MaidOfStars]

Ooooh, this is me, this is me

I work in developmental/medical genetics, in one of the research labs for the 100,000 genomes project.

I sequence genes in patients with genetic disorders (well, used to, people do it for me now), find mutations, work out what needs to be done to fix the mutation (either physically or functionally) and try to replace that function in a human with a disease.

I don't use viral delivery systems but others in my lab do (they are trying to correct a severe type of kidney dysfunction). I try to come from the functional angle. For example, if the mutation is in a gene that makes an enzyme, can I replace the enzyme function by, say, adding back the enzyme as a protein therapy? Or perhaps reducing the activity of another protein that normally inhibits the enzyme function, so that any low level function is boosted?

My experience is that genomic therapies ebb and flow in popularity. My husband has spent a large part of his career in the private biotech side of gene therapy and investment was either good or bad, depending on what was fashionable. Twenty years ago, gene therapy was great, then it was shit, then people started to think it would never work, then people realised they didn't need to do it, then tools were developed that made genome editing really easy (which is where we are now - there have been a couple of huge breakthroughs over the last year, Nobel prize stuff, not viral delivery though). There will be, over the next few years, a flurry of papers where genetic defects have been corrected in patients. All good stuff. Duchenne has been published already, I think?