BREAKTHROUGH: Scientists Reverse Blindness [CRISPR Technology]

Key Takeaways

hi welcome to another episode of cold fusion where i cover anything in science technology business or history most of us take our eyesight for granted but there are many people out there who can't view all that the world has to offer not because they simply need glasses but because of a genetic disease this is something that's been unfixable until now in this episode we'll take a look at how an emerging technology called crispr has allowed people to see again increasing their quality of life and has brought them much joy [Music] so today we'll take a quick look at what crispr is how it works and the latest experimental research restoring site to those who need it let's take a look [Music] so firstly crispr is an acronym it stands for clustered regularly interspaced short palindromic repeats alright so that sounds like a lot but the name really isn't important for today what is important is the fact that crispr is a biological tool that can be used to edit genes think of it like a biological pair of scissors that can cut dna but also has a component that can insert dna it's super low cost and can be done by researchers or even someone in their backyard garage gene editing can now be done in ways that used to be really difficult or if not impossible before so this crispr tool can quickly and efficiently tweak almost any gene in any plant or animal researchers already have used it to fix genetic diseases in animals to combat viruses and to sterilize malaria-causing mosquitoes they've also been used to prepare pig organs for human transplants or to create glowing animals including dogs cats and rabbits the crispr tool was first described in 2012 and since then there's been a massive realization of how powerful this tool is crispr has so much power that there have been calls to be careful on how humans use it but more on that at the end of the episode so how does it work exactly so crispr is a way of finding a specific bit of dna inside a cell when that specific part of the dna is found the next step is usually to alter that piece of dna so sometimes it can be cut but other times it can be used to turn specific genes on or off in the crispr system a special enzyme is used by scientists as a pair of molecular scissors these tiny scissors use an artificial guide made from rna a kind of messenger of instructions on where exactly to cut the dna the guide searches along the dna sequence until it finds its target think of it a bit like a google search once the right part of the dna sequence is found the enzyme cuts the dna the dna then tries to repair itself by searching around for the nearest bits of dna to grab the scientists have already introduced a new dna sequence along with the guide so when the dna is searching for something to grab it picks up the dna that the scientists have introduced and it stitches it into itself a microscope and a tiny needle can inject both the biological scissors and the new pieces of dna at once that's oversimplified but that's essentially how it works so let's move on to the experiment along the way of innovation some scientists have come up with the idea of using crispr as a gene therapy the headline case of today's episode involves injecting crispr therapy straight into the eyeballs of the visually impaired the aim was to directly correct genetic defects as crazy as it sounds the results was vastly improved vision from most of the volunteers even allowing some to see color for the first time so two studies one published in april of 2021 by the university of pennsylvania school of medicine and a second study by harvard medical school in september of 2021 have been recent drastic breakthroughs in gene editing in humans in one of the studies a legally blind patient regained their vision for over a year after getting a single injection of the crispr gene editing treatment in both of the studies the treatments were to reverse a specific mutation caused by a genetic eye disease that goes by the name of liber congenital amyourosis or lca lca causes progressive blindness early in life and patients are usually legally blind by adulthood so how does the treatment work well the genetic disease lca prevents cells from producing a particular protein cep290 and this protein is crucial for the eyes photoreceptor cells the crispr treatment sneaks some rna into those cells and triggers the production of cep290 essentially reversing the mutation for months at a time in the first study the researchers saw continual improvement in the patient's eyesight and the restored eyesight actually peaked for two full months after the injection and lasted for over 15 months as the study authors explained this result was a great sign for gene therapies at large [Music] in the second study multiple participants all of whom had lca were extremely happy that their vision was improved from the gene editing treatment the treatment of course is experimental and still far from curing lca but the changes that some have experienced were significant enough to have a meaningful impact on their daily lives let's take a look at some of the results some of these anecdotes just warmed my heart vision says he's starting to see again after taking part in a revolutionary gene editing trial to try and restore patients eyesight we first introduced you to michael in may he spoke to us about being the second participant in the world in a groundbreaking medical trial designed to try and restore vision to visually impaired patients the study involves the revolutionary gene editing technique called crispr for michael who was born with cerebral palsy this is life changing he shared videos with us of him picking up and drinking from a glass something he couldn't do easily just last year my visual field was so constricted that i my muscles would tense up and i would tense up when i was trying not to spill it i can grab it a little bit easier because my eyes relax my brain dr eric pierce one of the trial investigators with mass eye and ear tells us in a statement we're thrilled to see early signs of evidence that gene editing is working and functioning inside the body this has never been done before and is a major step for science still striving to be my very best and to make sure that changes in my vision because progress isn't always linear don't cause alterations in attitude or work ethic the next step is for michael to continue testing at mass eye and air to track progress in vision and the safety of this trial the hope is for this crispr treatment to become more widespread in the years to come in mineola long island dana archan fox 5 news that is incredible one patient karlene knight says that she can see colors far more vividly and feel safer walking around at work quote i was bumping into cubicles and really scaring people that were sitting at them it's nice i don't scare people and i don't have as many bruises on my body it's kind of fun to see she even dyed her hair green to celebrate her newfound ability to see her favorite colour her vision is brighter clearer and instead of having to reach and fumble around for objects she can simply now just look for them when talking about the experience of dropping a fork on the floor she states quote i just leaned down to pick it up and i didn't even know where it was and just saw it on the floor it's really cool it's such a simple thing for us but for someone to begin to be able to see again must just mean the world to them volunteer in the experiment michael calburo has begun to see colour for the first time in years he first noticed it a month after the procedure when a red car drove past but the most dramatic event occurred on the dance floor of his cousin's wedding quote i could see the dj strobe lights change color and identify them to my cousins who were dancing with me that was a very very fun joyous moment he's also gained more peripheral vision and can finally watch sunsets again he recalls the first time he saw one after the treatment he was coming home from a meal with a friend when he saw pink in the sky quote yeah you see the sunset that's the sunset and we both smiled at each other it was a great moment he finishes off by saying i'm just incredibly honoured and privileged to be a part of this and very very excited to literally hopefully see what comes in the future [Music] as for the scientists involved in this breakthrough they're very optimistic harvard medical school ophthalmologist eric pierce who's helping run the experiment told npr quote we are thrilled about this we're thrilled to see early signs of efficacy because that means gene editing is working this is the first time we're having evidence that gene editing is functioning inside somebody and it's improving in this case their visual function dr mark pennissey professor of ophthalmology at the kci institute at the oregon health and science university states quote it's really amazing technology and very powerful [Music] so we should talk about the shortcomings firstly the procedure didn't work for all the patients the harvard scientists theorized that either the dose was too low for their vision or that the unresponding patients were too damaged by their genetic disease it's also important to note that none of the patients have regained absolutely normal vision but the improvements are already life-changing with no significant side effects observed the team cautioned that more patients need to be treated and followed for a long time to confirm safety interestingly the results have been so promising that researchers have been given the go-ahead to move on to the next group of patients the researchers have begun to administer a higher dose which could work better and they eventually plan to start treating children who have the best chance of benefiting they're also optimistic that the vision of the patients could improve further with time as mark pennissey states quote when you improve the vision of the retina sometimes there's a lag for the brain to be able to recognize and use that vision it takes some time to learn how to use that improved vision so crispr is already showing promise for treating anything from blood disorders kidney diseases and even as a cancer treatment the results from this study could open the door to using the same approach to treat other diseases where doctors can't take the cells out of the body this includes brain disorders and muscle diseases and recently to top it off scientists just recently performed the first pick to human kidney transplant the patient was a brain dead individual on life support they used crispr to turn off the genes that would usually cause the kidneys to be rejected by the human body when you put an organ from a pig into a human is it going to do what it's supposed to do in this case the pig's kidney needed to rid the human body of waste and remarkably it did no evidence of this vigorous early rejection and the second thing the kidney functioned well likely because this was no ordinary pig researchers had knocked out one of its genes that triggers the human body to reject pig organs with family consent the kidney was attached outside the body of a woman who had suffered brain death researchers then watched as it started producing urine the significance of moving you know this into a human i think can't be understated the hope is to allow for organ transplants to be more readily available for people who need them okay so some words of caution what we've seen is an amazing use of this technology but we have to think about it carefully when it comes to genetic modification there's still a lot that we don't know what if there's some unforeseen changes that we don't know about yet because the technology is just too new what if crispr technology can cause off-target mutations that is to edit a gene that they're not supposed to there is still plenty of scientific work remaining to completely understand crispr but we do have to do our best to make sure it's as safe as possible once a mutation is in the general human gene pool it really can't be stopped we should also be careful of less positive uses you all probably remember what happened in 2018 when a chinese scientist hijian kui reported that he had created the first human babies with crispr gene edits a pair of twins resistant to hiv the announcement stunned the scientific world and the director of national institutes of health francis collins said that the experiment was quote profoundly disturbing and tramples on ethical norms so don't get me wrong i really don't want to take away from the amazing progress that's been made it can clearly change lives and make people's lives better in a very positive way i mean just the fact that it's making people's eyes better and letting them be able to see again is just amazing all i'm saying is i hope we just proceed with caution with crispr so what do you guys think are you fairly chilled out about this technology or do you see it as going a bit too far or maybe you're somewhere in the middle it'll be cool to get a discussion going though if you do want to discuss in more detail the best place to do that would be the cold fusion discord so that just about wraps it up i'd also like to say that the podcast has started up again so if you want to find the podcast versions of these episodes you can find it on spotify and some other platforms links will be below alright so that's about it from me my name is dagogo and you've been watching cold fusion feel free to subscribe if you want to see more so i'll see you again soon for the next episode cheers guys have a good one [Music] [Music] uh [Music]