Computer generated transcript

Warning!
The following transcript was generated automatically from the content and has not been checked or corrected manually.

So, uh so I just saw the question and I think uh we're getting kicked out. Um, anyone who would prevent it getting kicked out every 10 seconds. So, do we need to know each treatment related or just the main action of the treatment? Uh No, we, yeah, you just need to know the main actions but you need to know for some reason also the names of the drugs I'm giving you. Um Do we get to gene therapies? Can someone tell me? Is anyone there? All right. So, uh do we get to stop code and readthrough a night? Anyone out? Uh All right. So I guess we blocked out of here. This is very nice. Uh All right, combination therapies, you fold the protein and you activate it at the target site. Example of tri afta, once again, understand the um I guess how they work, but don't need to know exactly uh what the mutations are, you will need to have and know that Tri AFTA is a combination therapy. Does that make sense? Here? We have mitochondrial diseases? Um Remember, mitochondrial transfer is the only effective therapy. Also try it and get a handle of ex vivo in vivo in vitro because of we're short of time. I'm not gonna go into it. But here's the definitions um in mitochondrial transfer, you take a healthy mitochondria outside of a donor uh and put it into ap into an egg, which is, uh which doesn't have uh working mitochondria. That's about it. And it's done via IV VF in vitro virtualization in glass. I hope that makes sense. Uh All right. I'm thinking, OK, we can do all of gene therapy and I think we'll skip through brittle bone because that's not exactly just um uh genetics here, we have uh antisense oligonucleotide for gene slicing. Uh You know, in DNA, we have a sense strand which goes in one direction and antisense strand which goes in another, the antisense oligonucleotide will bind to the sequence we want to change or cut out and uh well do exactly that then splice the er sequences together which we think it isn't harmful. That's about it. An example of that is inosin. Just remember inosin antisense oligonucleotide. Uh then we have RNA and S in a silencing. Uh This is uh we just remember lur lma siren. Uh Does this basically make sure that anything which is odd in a DNA sequence or an RNA sequence is silence? It doesn't work anymore to make sure that we don't have a misfolded protein. Does that make sense? And it's better for treating autosomal recessive disorders? I hope you guys are still there? Cool. Uh, hi, MS Stepha. It seems like you were gone for quite a while. Um, there have been a lot of technical issues. Yeah, I've been following the chats and stuff. We'll talk about it afterwards. Yeah. Uh, so we've got viral gene therapies. Uh, these are done in vivo ie wher someone's still alive. Uh, we give a supplementation, er, example here with Tanzer and it uses the virus injecting the virus uh osteo osteogenesis. So, it's imperfecta is a difference in the glycine uh which uh turns 15. And that means that there's something called steric hindrance. This is something you should know about and it basically means the collagen isn't folded properly. Uh You guys understand the difference between the different chains. This is all an ECM. So you can use the tutorial really as a way of understanding how alpha one chains are made, but you should know that they done in the spiral patin of a glycine and then two other uh amino acids, glycine is normally in the center. And if it's a very small amino acid, it means your collagen is uh very tightly bound and strong. If this is replaced by cystine, it causes kinks in the chain. And that means your collagen is not as strong and therefore your bones are weaker, that's pretty simple. Uh But, and normally uh this is also uh heterozygous in patients, which means not all the chains are affected. So, not all the collagen is probably er, and soft, which means that you won't have completely debilitating bone dysfunction. Uh uh This is once again, just revision of ECM. Uh OK. Now, here, here's an important bit that you guys should know. Uh how are you still there? But we've got prenatal diagnostic testing. All right, we have two different types that we can use. Uh We've got genetic screening of fetal DNA via amniocentesis. And then we enhance that by using PCR, which binds to uh the DNA sequence which is abnormal and amplifies it to make sure that we, to test, to see if, if they're in uh enough amounts or we can er sample via uh C vs or amniocentesis, then cut out the DNA sequence which we think is abnormal and separate it to see if it's there. Those are the two different ways we do it. Uh Did everyone get that? I hope uh it PCR or restoration uh fragmented length polymorphisms. Those are the two different ways we uh can identify something as if someone has uh osteogenesis, imperfecta or any sort of other uh genetic disease. And here's an S AQ I won't go over this.