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.

I mean too shy, obviously.

That made me

But you see that's what I'd assume - big cure for disease = a win. Why else would you do it? And what happens if as a CEO you hide the "cure for condition X" and then someone you know has it, could you really sneakily cure them and keep it off all radars? I just get very at the conspiracy theorists...

Kacie the CEO doesn't really have a power to hide a cure and also doesn't 'own' the product. There are too many other stakeholders who want a share of the money. Also, having a good product puts a company in a very strong position to buy out smaller companies and turn into some kind of global conglomerate.......

On the other hand, no company wants to release a drug and then pull it back because it isn't good enough. So there might be an element of waiting to get really good clinical data before general release.

Discovering and developing a drug can take 10-15 years, it is a long process.

It's also a very expensive process to have it cleared for commercial use. It is more likely that a company would choose not to make an investment in a potential cure because there isn't a business case for it than that they would have a cure and not release it. That's also the problem with some drugs like antibiotics. There is no business case for developing a new antibiotic as it would be put on the shelf and not released so that it would be the new antibiotic of last resort.

Sorry I know that's not related to gene editing which is very cool.

This thread is fascinating. I have a biology degree and a reasonable knowledge of genetics and I also happened to marry a man who has the pre-mutation for Fragile X syndrome.

In his late forties he is already showing signs of the complications that come with being a carrier so any developments are probably too late for him.

However, DD and SDD are also carriers and likely to experience some problems themselves and a big risk of passing on the full syndrome to any children they have so I pay close attention to any genetic developments.

I don't know if these developments would help us due to the fact it affects a specific area of an entire chromosome but it's all good stuff.

I wouldn't hesitate to do gene therapy if it were available and could prevent them struggling.

One other cool thing about gene editing is that CRISPR was discovered by two women scientists.

I like that it was women who discovered CRISPR.

I've been doing some reading about it myself in last few days since Skipton mentioned it upthread. Or should I say Clustered Regularly Interspaced Short Palindromic Repeats

I'm a sucker for a good acronym.

I'm a bit late to the conversation, but I've long wondered something about "junk DNA". Could some of that be involved in the development of the early embryo? I mean, there obviously is a lot of organisation that goes on in early stages of differentiation, e.g. which end is the head. Whatever genetic information sorts those kinds of things out are probably (certainly?) not needed once the basic structure had been sorted out, so need to be turned off?

It is a fascinating subject. Is there yet a definitive answer to whether Homo sapiens sapiens has any residual Neanderthal DNA?

My PhD was spent looking at the set of genes that instructed an embryo to 'make a head'!

It's a genetic program. Cascades of expression from various gene sets. They are turned off when not needed. Some of them, we know what turns them off, some we don't. Some of them are used to make a blast of protein that simply diffuses away and 'runs out'.

And yes, some Homo sapiens have Neanderthal DNA. I think all of us that aren't African (as any DNA exchange will have happened after we exited that continent).

MaidOf - is that a homeobox?

My friend also did his PhD in that field a looooong time ago. He is terribly important now and wears a suit and tells other scientists what to do.

He was actually quite useless at practical lab stuff but awfully clever.

My PhD was spent looking at the set of genes that instructed an embryo to 'make a head'!

My PhD was spent looking at genes that make you develop as a male rather than a female. Developmental biology is so interesting :)

Ego I think there is a lot of stuff around now that would have been dismissed as 'junk DNA' in the 90's. I bucked the trend in the late 90s doing a post-doc that worked on a non-translated RNA that controls X chromosome inactivation (What, no protein?). I'm just glad we are making better sense of it now.

AbetaDad
I also tell other scientists what to do. I don't wear a suit though as I still do lab work myself (technology development and drug discovery)
What does your friend do?

grumpy - he is a very senior manager in a big pharmaceutical company now. I think he sits just below board level and is mainly now involved in explaining research outputs to investors, raising and allocating research capital to promising areas and deciding what current new research trends coming out of universities can be commercially exploited.

He knows the science extremely well - just doesn't do any of it himself.

MaidOf - is that a homeobox
Some of 'late' head genes are. I worked on a set of genes that defined the 'dorsal/head field', a little bit of time before actual head development starts.

Another big step forward today, excellent!

And they said on the radio that they were going to use CRISPR to do this, which we all know about now thanks to the very patient sciencey posters on this thread

BBC link: Scientists get 'gene editing' go-ahead

I think the research is exciting (it's basic research, rather than creating a clinical service). Remains to be seen how resistant the general population is to the technique, especially if it is ever proposed clinically (I think I said above that I don't think it's a particularly obvious thing to do).

Another step forward today! Breast cancer this time. They think they have found the 93 genes that cause breast cancer if they mutate.

Hurrah!

www.bbc.co.uk/news/health-36168717

MaidOfStars as soon as I heard it on the radio I thought it sounded exactly like a post of yours I read so came back and found it:

If I sequence the entire genome of Patient 1 with a very rare disorder, I will find 2000 interesting/rare DNA differences which could plausibly cause the disease. If I sequence the entire genome of Patient 2 with the same rare disorder, I again find 2000 interesting/rare DNA differences which could plausibly cause the disease.

Comparing Patient 1 differences with Patient 2 differences might mean that I can see they share only 100 of those interesting/rare DNA differences. Given that they share a rare disease, this allows me to narrow down the likely candidates in my hunt for which gene mutation is causing the disorder.

Now add Patient 3....

Is this pretty similar to the technique they've used for this breast cancer breakthrough?