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Gene therapy allows an 11-year-old boy to hear
- CommanderData 3y agoIf true this is ground breaking news especially in the Audiology community. There is zero treatment besides hearing aids / cochlear implants for sensory hearing loss in Human history until now.
- ijhuygft776 3y agowhile this is great, couldn't something like Neuralink help too?
- GauntletWizard 3y agoRepairing our own bodies/preventing damage initially has significant advantages over something like Neuralink; Not fighting the bodies' own self repair mechanisms being a huge one.
- ceejayoz 3y agoNeuralink has a long way to go to demonstrate that capability.
- starttoaster 3y agoThis is incredible news to me, as someone with horrible tinnitus, I'm choosing to take this to mean that some day we may even have a treatment. If I ever could hear the sound of absolute silence again, I think it would reduce me to tears for a while. Hearing a ringing sound everywhere you go isn't literal torture, but it's maybe just below it, and I've been living with it for the past decade thanks to poor choices in the military. I recognize that they solved a completely different issue, by the way. But the fact that it's possible to do this means to me that a different treatment for tinnitus may some day also be.
- adventured 3y agoWhat are the modern approaches used to try to lessen tinnitus? I've seen stories about therapy targeting white or brown style noise at it, adjusting frequency until it has an affect. And that over time it can, for some people, reduce the tinnitus.
- starttoaster 3y agoI tried one of those frequency adjustment videos where it just loops through a bunch of different frequencies to try to find the one that cancels out the ring of your tinnitus. I haven't found one that worked for me, really. But I should give that more time. Other than that, I'm not aware of any modern treatments for tinnitus.
- lIIllIIllIIllII 3y agonote - maybe for others suffering with it given your background but idk - I've had low-level tinnitus for ages, at some point it suddenly got really bad (hearing it over street traffic), turns out my ears were totally filled with wax which muffled sound and destroyed my SNR, therefore tinnitus back to normal slight tinnitus once removed. very easy process.
- CommanderData 3y agoThis could lead a way to fix Tinnitus, there's many causes of Tinnitus but it's almost always thought to be trauma to the Cochlea organ / structure. There's many cells involved in sensing and relaying signals to the brain, and are damaged by a growing list of things (Antibiotics, viral, Osteoporosis, lack of blood flow, Acoustic trauma, protein loss - long lived proteins in the Cochlea). Even our own immune system has the ability to damage the Cochlea. There is actually limited recovery of the OHC's at least but lack of regeneration potential. If there's a path to regenerate, it could one day fix the underlying cause and with this news it seems we're closer than we ever have been.
- neonate 3y agohttps://archive.ph/3FmSZ https://archive.ph/3FmSZ
- twostorytower 3y agoBut no matter how well the gene therapy works, the researchers recognize that Aissam may never be able to understand or speak a language, Dr. Germiller said. The brain has a narrow window for learning to speak beginning around ages 2 to 3, he explained. After age 5, the window for learning spoken language is permanently shut. Wow that's incredibly sad, but I am glad that this will eventually get into the ears of thousands of deaf newborns. Incredible medical advancement. Gives me hope that one day my tinnitus may have a cure.
- jv22222 3y agoYou probably know about all about meniere's. If not, have you tried going off salt?
- Etheryte 3y agoHave you tried going off pseudoscience?
- holdsleeper 3y agoWhat part of their comment was "pseudoscience"?
- JumpCrisscross 3y ago> What part of their comment was "pseudoscience"? Is hypernatremia a cause of Meniere’s?
- MathMonkeyMan 3y agoReducing salt might help with symptoms[1]. [1]: https://www.mountsinai.org/health-library/special-topic/m-ni-re-disease-self-care https://www.mountsinai.org/health-library/special-topic/m-ni...
- 3y ago
- coderintherye 3y agoLooking up Otoferlin (the gene in question) led to this accessible and understandable paper: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5283607/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5283607/ (2016)
- somethoughts 3y agoAlso a slide deck/presentation that seems related by Akouos - the original biotech company that Eli Lilly acquired. https://akouos.com/wp-content/uploads/2021/05/2021_0503_ASGCT-Presentation-2_AK-OTOF_Final.pdf https://akouos.com/wp-content/uploads/2021/05/2021_0503_ASGC...
- chewmieser 3y agoGift article link: https://www.nytimes.com/2024/01/23/health/deaf-gene-therapy.html?unlocked_article_code=1.P00.uUmQ.55Z_m9iz-_Dg&smid=url-share https://www.nytimes.com/2024/01/23/health/deaf-gene-therapy....
- karaterobot 3y ago> Some Deaf parents, he added, celebrate when their newborn baby’s hearing test indicates that the baby is deaf too and so can be part of their community. Tough one. You want to respect the wishes of the parents, but you also want the kid to have the option to hear (and understand spoken language) when they are an adult and can make their own decisions. You may not be able to have both, given that this kind of deafness is progressive, and even with gene therapy you evidently need to treat it when young to give the child any hope of hearing. What if it turns out the kid wants to be able to hear, but by the time they are of age, it's too late and their inner ear’s hair cells are all dead?
- throwuxiytayq 3y agoMoronic tribalism at its worst. This is why we can't have nice things.
- BurningFrog 3y agoWe have nice things!
- Loughla 3y agoDeaf culture (with a capital D) is a fascinating study in what it means to have a disability. The definition of disability is impairing one or more major life function. Capital D says that's not them. They just communicate differently. So. If they have that culture, is it bad for them to celebrate that they can share in it with their children? For reference, I think it's bad. But I can see the logic.
- oefnak 3y agoYou don't need to be deaf to communicate with deaf people, right? You could learn sign language either way.
- actionfromafar 3y agoWhat does it mean to be a bat? (Not just be able to talk to one.)
- rafaelero 3y ago[flagged]
- mgl 3y agoNot particularly connected but for anyone interested in analyzing their DNA: You may get your somehow accurate (not: medical grade accurate) raw DNA sequence from Ancestry DNA kit. Why from Ancestry and not other similar services like 23andme? Because they probably have the best accuracy for the money. You may then submit your DNA code to https://promethease.com/ https://promethease.com/ that builds a personal DNA report based on connecting a file of DNA genotypes to the scientific findings cited in SNPedia. You may learn a few things about yourself and your kids, which may also include severe conditions which could unfold in the future. Sample report: https://files.snpedia.com/reports/promethease_data/promethease_ancestrydna-v2-male1_ui2.html https://files.snpedia.com/reports/promethease_data/promethea... Disclaimer: sharing your DNA is always risky
- jkingsman 3y agoWithout commenting on the risks vs. rewards of sharing your genetic material, services like Nebula Genomics have reasonably priced (USD$249 30x, USD$899 100x) sequencing that's extremely high quality and suitable for getting into learning bioinformatics, if you're willing to wait for a few months and that's your jam (i.e. the data is sufficiently deep and full coverage that you can get meaningful results from it as opposed to the limited view of SNP analysis like 23andme or ulta-low-depth sequencing). The last frontier for consumer/prosumer genomics is hifi sequencing for correctly getting at your hard-to-read areas that are full of long repeated runs. Dante Labs offers sequencing that targets this for about USD$1900, but it's an evolving area in terms of bang for your buck.
- derefr 3y agoMaybe an odd question, but — given modern technology, if you were a bio lab tech and bioinformaticist yourself, would it be practical to just order some used equipment off eBay and build yourself a home DNA sequencing setup? And if so, would it then just be a matter of time and effort (rather than equipment and materials cost) to do a more thorough sequencing of your own DNA than any lab would ever be willing to do for you?
- 3y ago
- bratwurst3000 3y agoIs this relevant to tinnitus? Sounds like it could help but I am no expert
- CommanderData 3y agoNot directly, but breaking it down - they've successfully delivered viral code to inner hair cells. I have been following Tinnitus for quite a while now and it's assumed it's caused by some form of trauma to the Cochlear, either auditory nerve, IHC/OHC or SGN cells. Even with patient's with no record to prior trauma (potentially immune system dysfunction or compromised blood labyrinth barrier / BLB). Now if this is continues to show success we could start seeing more therapies targeting the Cochlear by way of gene therapy and it potentially helping people with Tinnitus by treating it's underlying cause. I.e. Regenerating lost cells in the Cochlear.
- deleted 3y ago[deleted]
- ikesau 3y agoDoes this go both ways? can we use gene therapy to make 11-year old boys deaf?
- copperx 3y agoThat's the dream of many deaf parents.
- aquafox 3y ago> His is an extremely rare form, caused by a mutation in a single gene, otoferlin No. Otoferlin is the protein encoded by the OTOF gene. I wish science journalists would be more science literal.
- CreRecombinase 3y agoNo. OTOF is the gene symbol. Referring to the gene as otoferlin is perfectly legitimate
- JR1427 3y agoExactly. Also, even if the gene and protein names were different, real scientists wouldn't get hung up on minor technical slip-ups like this, because everyone knows what is meant. (Former cell biologist)
- zooi 3y agoDid you mean "literate"?
- DoingIsLearning 3y agoQuestion for the Bio people, from what I've seen gene therapies so far target very narrow scope sometimes rare diseases. Is there any 'broad spectrum' type gene therapy currently in the pipeline of any company out there? (not specific to audiology) And is the narrow scope because it is easy to control in these early days or is that we simple don't know enough to make more complex gene therapeutics without understanding collateral damage, side-effects, for example?
- kozinc 3y agoBeing a layman too, as I understand it, it's because the deafness is caused by a single (mutated) gene which makes it (comparatively) easy to change. In this case, because the altered gene causes a necessary protein to be faulty or missing, gene transfer therapy can introduce a normal copy of the gene to recover the function of the protein. For other diseases caused like this you're mostly right on the money - sometimes because while a single gene might be the culprit, the mechanism is unknown, sometimes mutations in some ‘single-gene disorders’ may not be in a single-gene at all, not to even mention other possible interactions or the risks inherent to gene therapy.
- salubrioustoxin 3y agoYes. Also, even within rare disease this application has desirable features. Obvious bio marker (hearing), relatively isolated organ system with obvious delivery method (inject into cochlea). main downside is that there is an existing alternative (implant) so risk/benefit question is less obvious compared to eg neurodegenerative diseases.
- DoingIsLearning 3y agoIs delivery critical or just get it close enough to tissue in ROI? Are we aiming to modify specific cells/layers? And what happens to adjacent tissue that is 'accidentally' modified? Do you have any literature recommendations on the state of the art in Gene Therapy 'delivery' mechanisms/apparatus?
- huytersd 3y ago
- smallhands 3y agolanguage he invented and had no schooling. Last year, after moving to Spain, his family took him to a hearing specialist, who made a surprising suggestion: Aissam might be eligible for a clinical trial using gene therapy. Exploitation. I wonder how much this doctor get paid for this !
- formvoltron 3y agoWas this via gene transfer? Any idea how far off we are from overwriting entire genes with known perfect copies? And if we can do that, then how much longer before we can iteratively overwrite segments until we've overwritten the entire genome in every cell with a perfect copy (derived by merging the sequences of many of our mutated cells)?
- verisimi 3y agoI don't get this gene treatment at all. We are told: > The gene therapy consists of a harmless virus carrying new otoferlin genes in two drops of liquid that are delicately injected down the length of the cochlea, delivering the genes to each hair cell. You just squirt some medicine near the cells, and then the cells are sorted? This is no explanation at all. You could say, 'the cells absorb the protein and as the completes the bio-circuit, it is now activated correctly and the patient can hear'. Obviously I just made that up! But how does the thing work? Eg, if this was cancer and you operated to take the cancer out, fine - I get the principle. It if it's chemo, you insert some chemicals typically and it kills the cancerous growth, I get that too. But what is the gene therapy doing, at an engineering level? It's a mystery to me. Frankly, while I can understand a gene therapy working when treating a fetus, I don't get how it can work once the cells are developed and in place. I'm sure I'm dumb, but there it is. The whole article reads like a gene therapy promo, with no details that help understanding what the treatment is. You might as well say 'magic'.
- immersible 3y agoIt is funny that this supposed hereditary deafness is caused by what they call a "nonsense mutation". "Yasunaga S. et al. (1999) showed that the affected individuals in this family were homozygous for a nonsense mutation in the OTOF gene. " (retrieved in 2024/jan/24 from https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/otof https://www.sciencedirect.com/topics/biochemistry-genetics-a...)
- tsol 3y agoIt's kind of amazing. The issue is that the cells have a dysfunctional copy of the OTOH gene, which leads to production of a dysfunctional otoferlin protein that does not work. There are virii that inject their DNA into cells. They modify one of these to make them inject a working copy of the OTOH gene into the cell. Cells have a mechanism where if there is a gene floating around nearby it will sometimes pick it up and integrate it. This is the process that is exploited in gene therapy to change individual cells to produce the correct protein. If enough cells produce the correct protein, there will be enough to have the desired effects. It's really unbelievably cool. I wish there were more appreciation for how these things work.
- HankB99 3y agoI am listening to a podcast on StarTalk Radio (Neil deGrassse Tyson) on gene editing. "Unlocking Gene Therapy with Gaurav Shah." If the subject interests, it might be worth a listen.
- rony989 3y ago[dead]