Scientists are exploring gene editing as a way to correct trisomy at the cellular level. Using CRISPR-Cas9, researchers successfully removed extra copies of chromosome 21 in Down syndrome cell lines, restoring normal gene expression.
This breakthrough suggests that, with further development, similar approaches could be applied to neurons and glial cells, offering a potential treatment for those with the condition.
Gene Editing for Trisomy Treatment
Scientists are exploring gene editing as a potential way to treat trisomy at the cellular level, according to a proof-of-concept study conducted in lab-grown cells. Down syndrome occurs when a person has an extra copy of chromosome 21, affecting about 1 in 700 live births. While the condition is easily diagnosed early in development, no treatments currently exist.
In this study, Ryotaro Hashizume and colleagues used the CRISPR-Cas9 gene editing system to remove the extra chromosome from trisomy 21 cell lines. These cells were derived from both pluripotent stem cells and skin fibroblasts. The technique was able to identify and precisely target the duplicated chromosome, ensuring that after removal, each cell retained one copy from each parent rather than two identical copies.
By suppressing the cell’s natural DNA repair mechanisms, researchers increased the efficiency of removing the extra chromosome. Their findings showed that this process restored normal gene expression and cellular function in edited cells.
Potential for Future Medical Interventions
Although promising, the method is not yet ready for use in living organisms, as it can also alter the remaining chromosomes. However, researchers believe that similar approaches could eventually be applied to neurons and glial cells, paving the way for potential future treatments for people with Down syndrome.
Reference: “Trisomic rescue via allele-specific multiple chromosome cleavage using CRISPR-Cas9 in trisomy 21 cells” by Ryotaro Hashizume, Sachiko Wakita, Hirofumi Sawada, Shin-ichiro Takebayashi, Yasuji Kitabatake, Yoshitaka Miyagawa, Yoshifumi S Hirokawa, Hiroshi Imai and Hiroki Kurahashi, 18 February 2025, PNAS Nexus.
DOI: 10.1093/pnasnexus/pgaf022
Never miss a breakthrough: Join the SciTechDaily newsletter.
85 Comments
What would the outcome of such treatment be? The third chromosome has effects on lots of things throughout the body including growth and development and physical appearance. Would someone who underwent this treatment start changing physically? My son is 8 with Ds.
This treatment most likely would be a procedure done in womb (during fetal development) you can’t alter DNA after the child has been born.
You may want to fact check yourself on that statement. Or are you claiming gene (DNA) mutations never happen after birth, or that retro viruses don’t alter the hosts DNA?
I would suspect it would result in physical changes. The therapy if successful would likely alter the general characteristics caused by the genetic disorder, by stripping that expression. Like you mentioned the trick is snipping without likewise removing other functional genomic structure.
Personally, I don’t trust anything named CRISPR. I have one of those in my fridge and it definitely does NOT make things crisper.
CRISPR is short for
clustered regularly interspaced short palindromic repeats
Thank you for the laugh!
Actually yes. The point of CRISPR is gene editing in live subjects.
Have we not learned anything? Playing God, always has consequences. God has allowed these conditions for a reason, and we should except them and move on.
Really?! If God didnt want the sick healed then why did Jesus go around healing all those people??? And He turned NO ONE away.
Sciense is not “playing God” either.
But we are meant to emulate Jesus: be kind, be helpful, and fulfill the needs of the people: hunger, illness, shelter, etc.
Many have died in both the name of science and God
God gave us the ability to modify the world around us. He gave us every tool we need to heal ourselves. But he reveals the technology to us as our capabilities to understand and comprehend his greatness expand. We are constantly evolving and we need to further believe in his genius.
Never stay stuck in the past, always be looking to the future.
Tell that to the USA government….
So if you or a loved one was diagnosed with cancer, you would not have any treatment as God intended you to die? If that’s the case, you should not go to any doctor for any reason as whatever malady bothers you was intended by God. So suffer and die.
That is the most evil thing I’ve read today. If we’d followed that logic, we’d still be suffering from leprosy and dying of consumption. Fortunately, there’s a good argument against that: God also gave us the capability to treat diseases and disorders, by blessing us with the cognitive abilities to understand diseases and discover how to treat them. He also blessed us with naturally-occurring enzymes with which to base CRISPR technology on (the original Cas9 enzyme came from bacteria living in hot springs in Yellowstone). We cannot know His purposes, but we know His views on what is good, and reducing disease and suffering in the world is good.
Certainly, new technologies should always be weighed in their potential for misuse. But technologies are not inherently bad or good. They are double-edged swords, and can be used for good or ill, depending on how they are used.
You can alter DNA after a child is born. Here are the current FDA approved gene therapies for children and adults
ROCTAVIAN: For hemophilia A
Zolgensma: For spinal muscular atrophy in children
Luxturna: For inherited retinal disease in adults
Hemgenix: For hemophilia B in adults
SKYSONA: For cerebral adrenoleukodystrophy in children
Zynteglo: For beta-thalassemia in adults and children
Casgevy: For sickle cell disease in patients aged 12 and older
Lyfgenia: For sickle cell disease
Hi,
Can CRISPA help with muscular dystrophy in adults?
CRISPR is just a method for splicing genetic code into a gene (or in the article’s case, cutting up an extra chromosome. If the genetic cause of MD is found, it could be used to edit in a “fixed” segment of DNA. It is much easier to do with embryos though, before they have developed. I do not know enough about the disease to say whether fixing a mutated gene would repair damage. Also, there are challenges with administering gene therapy to adults, such as not getting the treatment into every cell. But it is something that can be done. The take home: it is more a question of whether researchers have figured out all the mutations responsible for MD. That isn’t always easy, as often it is multiple mutations. Or it can also involve epigenetics, i.e. the way cells turn genes on and off. So that is a question more for MD researchers, than that of CRISPR.
Actually, you can, which is what gene therapy is.
I’m sorry, but this is false. They have been editing genes in live mice to test potential “treatments” for all kinds of conditions in humans, both genetic and acquired. While they may be years away from getting any kind of approval by the FDA or Ethics committees in the US for testing in human subjects, gene editing does have the potential to be used in children and adults to “cure” genetic Connective Tissue Disorders like mine. That being said, there are many people with Down Syndrome that wouldn’t consider it a “disease” they need “fixed” so the future of human gene editing will likely become a battle between the government and citizens over the issues of ethics, patient Rights, body autonomy, medical “freedom,” and parental Rights…similar to the issues our country faces today over reproductive Rights, abortion access, terminal-disease euthanasia choices, cancer treatment protocols, and transgender care access. Just because we may end up with the scientific potential to treat/cure/prevent all medical “disorders” doesn’t mean that all people will agree that we should.
You can GMO humans – both the soma (body) and germ lines (sexual reproduction machinery), but there are practical and ethical problems – to say the least.
Please how can I get the CRISPR FOR GENE EDITING IN DOWN SYNDROME, Nigeria
My son has DS too. It’s unknown what effect it would have and the risks are great. I don’t see how it could reverse physical characteristics in a mature person. But the implications here are staggering.
Impressive research, though I would appreciate the focus on life threatening cancers, which we haven’t any answers for. How to detect and treat cancers like pancreatic cancer for which Ive lost family/ friends, and is not easily detected.
Why would they cure cancer when the treatment is a more than 100 billion dollar a year industry?
They are curing cancer. The problem is that there are over 200 diseases that fall in the category of cancer. We have finally figured out how to manipulate the immune system so that we can stop cells before they reproduce. We have one drug that treats 16 different types and immunotherapy has drastically reduced the recurrence rate. Will cancer continue to sicken and kill people for the near future? Probably, but we are already making huge strides in detecting it earlier and treating it when we find it. I can remember a diagnosis of prostate cancer was pretty much a death sentence, now most men recover.
Evey person deserves therapy! N=1 for Rare/Ultra Diseases are equally as important as N=millions.
i hope it’s not selfish but i would’t want my sister changed in any way… perfect in every way in my eyes & heart ❤️
Realistically, will this have an effect or QoL? What’s the level of change estimated and will this help to address the myriad of health issues associated with DS? It’d be awesome if this could help the population of people who are at risk of heart and respiratory issues.
Side note: My ranked teammates will no longer have any excuses.
Down syndrome is quite life threatening and also quality of life destroying. While I can appreciate your want for cancer fighting treatments..any relief to the people suffering from this disease is a very welcome development in a system where cancer far outshadows research conducted into down syndrome.
Sir, it’s not a disease. It’s a genetic condition, but not a disease. Further, to state that people “suffer” simply from being born with this condition considers these individuals as less than a “normal” person, and to think that they must be fixed.
My son has DS. Your condition, that is the fact that you are living, is also fatal. Your life will end. So will his. He will leave the world a better place because he sees people for who they are, and loves them unconditionally without feeling the need to change them.
WTAF dude? I have an adult daughter with Down Syndrome who has a kick ass life. Better than many of her “typical” peers. She is also perfectly healthy. In fact healthier than many of her “typical” peers. Something is really wrong with you.
Down syndrome is quite life threatening and also quality of life destroying. While I can appreciate your want for cancer fighting treatments..any relief to the people suffering from this disease is a very welcome development in a system where cancer far outshadows research conducted into ds
Eugenics….all over again.
Cancer cells are “broken” in so many ways that CRISPR techniques likely are less helpful.
In response to the nature of cancer, current cancer medicine has a plethora or approaches. Many of those are effective, for example my nation has a vaccination program that should eradicate HPV induced cancers.
There is focus on pancreatic cancer. My sister received treatment at Mayo clinic for pancreatic cancer and benefited from all the research. She is alive and doing well years later. ALL conditions (cancer, Alzheimer’s, muscular dystrophy, and genetic disorders) deserve focus by the NIH and academic universities. People with cancer are no more deserving of research than people with only life limiting disorders.
I was literally wondering this myself.
Amazing. My little guy is almost 4,and it sounds like this would apply to mainly early baby formation, but if they develop better treatments to help them along, then I’m all for it.
Additionally, how will it impact their mental health. While I do not have a relative with DS, I have often interacted with children and young adults who have DS. They are mentally often the happiest people I’ve ever known, always smiling and I have never personally known them to be negatively impacted by the general negativities in life.
With this treatment, will these individuals potentially suffer from a negative mental shock to their formerly positive mindsets? Will it potentially create challenges with Depression, Anger, Frustration, Fear, and more?
I’m not suggesting the idea is bad, I’m just hoping we recognize this potential mental hurdle and provide every resource to help them overcome these challenges. It is also very possible their brains can remain wired for positivity, which would be an incredible gift for scientists to explore and potentially use as treatments for people who suffer with mental issues. Maybe a discovery of neural pathways that can somehow be altered that removes those negative thoughts.
So there could be Positives or Negatives or both, but we must be diligent with this aspect as well.
I do actually have family members with DS and I assure you they have depression anger fear and more… Frustration in particular is an extremely many times a day occurrence.
Uh, this operates under assumption that there’s something “wrong” with individuals with DS. They are fearfully and wonderfully made by their creator. Knitted together in the mothers’ womb. As IQR stated, individuals with DS do offer such optimism to this world! We could all learn from them. Quit trying to play God at the expense of others. As others have stated, this could also apply to other situations, like cancer resarch, which would seemingly hurt far fewer people. Embrace these individuals as they are, and for the beauty they have been gifted. Why burden them with the worries of this world? This is an amazing concept. But as humans, the decision is above our pay grade.
Hello, I think you are a beautiful human being. May you live a life as beautiful as your soul… Never forget you Are Wonderful✨😍
Seriously? Of course they’re happy. Life is pretty peachy when you don’t have to worry about bills and a career.
What an incredibly cruel and wicked thing to believe. That someone wilfully chose to burden a child with a developmental disorder. That’s insane. If you believe in magic, why are you on a science based website? If the magic bearded man in the clouds can use his super powers to do anything, why are you using technology? Why do you go to the doctor? Why do you wear a seat belt?
Why do you say magic is god and the rest is man? It’s all God stupid and Jesus didn’t die so you could have church, he died so you could have a relationship with God and bearded man?! You need this gene therapy – I’m not shocked that a person who acts intelligent would think omnipotence can be achieved in that form. Grow up. The magic of God is in these tech advances and these cures. You literally have been given these things from nothingness – these cures. Get right fool.
It seems John makes the point that magic gods – which doesn’t exist – would be a cruel concept. What of it!?
Also, scientists have worked hard for centuries to gain useful knowledge such as working medicine. That is neither a given nor magic- it is hard work.
Nonsense. God doesn’t create individuals with disabilities. He creates them in his image and then they develop the condition as a result of genetics or exposure. God is not going around giving kids disabilities or diseases. Where do you people get this ridiculousness. If science can improve quality of life, why stop that?
If “god” created them. God also created the science to dice them.
Also same argument for natural Vs not natural. Imo let’s say if an ape created a treatment for an illness, then it would be natural. we create treatments and cures and so it’s also natural. Our brains created all this naturally soooo it is what it is
The problem with magic superstition is that it refuse to agree on anything (since there is no magic). For every such “my magic notion is not cruel by omnipotence and intent” there is a “that magic notion is cruel by omnipotence and intent” – here on display in the same thread.
Meanwhile, medicine is neither omnipotent or intended to be cruel. Why do you oppose evolutionary science, which is both part and the basis of the life improving science you hail?
Stupid comment. Let people experiment… Qol is no doubt awful for DS people. Just because they seem happy doesn’t mean if they knew truly what they are missing they wouldn’t jump straight to a cure.
It’s also a massive cost both $$$ and also peoples time
Pet yes I agree but the reality is they are very limited and many are not cared for properly! Wouldn’t it be better if they were set free to be able to be fully self sufficient and have a higher level of intelligence?
There is no magic agency acting here, no “gods” or “demons”. Instead we have ethical concerns, which can be debated. Generally genetic diversity is good for a population, but there are also genetic problems (mainly “hidden” recessive genes) that makes for suffering. It is part of nature, and we can as part of that nature fix it if we want – say, to prevent suffering.
This research lays the foundation for treating other Trisomy disorders. Have you ever met a child with Trisomy 9, 13, or 18? They often cannot sit, walk or talk. It is very very sad and they often have typical life spans. Are you going to volunteer to take care of these children 24/7 and pay for their care?
Holy smokes! Can you even imagine? You naturally want a perfectly healthy child, and yet after 8 years you’re so is who He is… and he could be altered to be who he could’ve been? And like you said, would the typical features change? If it was done later in life and not in-utero… man! What a hard decision to have to make. In one has THIS is who your child is… on the other hand, they could live a “regular” life – but be completely different people. My son was stillborn from developmental complications of T21, but WHOA!! Science!!
Amazing that people start arguing about why not do research in curing “X” instead of research in curing “Y”…
These are not competitions people.
All conditions deserve attention and are indeed researched on, and hopefully all will get a cure one day.
👍
I will let those better equipped to do so talk about what this means for Downs, but….could they do this with trisomy 13 or 18? The implications THERE are massive.
I don’t see why not.
Trisomy 21 is common and affect adults, trisomy 13 or 18 are lethal within a year. That means there are different resources and ethics involved. The abstract gives a description which implies why they started with trisomy 21:
“Human trisomy 21, responsible for Down syndrome, is the most prevalent genetic cause of cognitive impairment and remains a key focus for prenatal and preimplantation diagnosis.”
I know children who have Trisomy 9, 13 and 18. Many live typical life spans but they are often unable to participate in life as they cannot sit, walk, or talk. And the government just wants to cut the funds that provide 24/7 caregiving. These people deserve to have an opportunity for gene therapy.
Reading the advances being made regarding CRISPR research and Downs Syndrome, certain cancers etc. I also know of research being done for Ushers Syndrome. My son has Ushers – losing vision and hearing. I contacted CRISPR and heard nothing. Thousands of children and adults have this condition. Would love to hear results regarding this syndrome but thankful for what is being done for these other families. Fantastic and good luck.
I have a freind in luvene belgium working on Usher crispr cas,I guess the first step was modeling the disease which sucessfully done not sure about the progress since then. But there are labs around the world working on it with crispr,
CRISPR is a method and it is still on the research stage (where it is a very versatile and useful tool, if you are not bothered by the many mistakes it makes).
Why not work with trisomies that are incompatible with life or have a shortened lifespan. Those w downs have a place in society.
Such as trisomy 13 or 18 or even 22? Trisomy 22 has next to no research. 22q is more commonly a deletion, however, there are those with the duplication.
Do they realize just how many with 22q deletion or multiplication do not leave the hospital as infants?
My suggestion is work on the deletions with little survival rates, first. Most treatments like this would be done by 20 weeks gestation. This is because most duplications occur in the first stage of development in uterul.
When this treatment is perfected for Trisomy 21, I see no reason it wouldn’t work equally well for other trisomies. I don’t think they are implying they are treating Trisomy 21 and ignoring other diseases.
👍
When you have a huge seemingly unattainable goal on a path that has never been blazed before, it is common practice to take small steps towards that goal so the knowledge gap isn’t so intense. Imagine telling someone who has never built a house to build one.. they would need to learn woodworking first perhaps building a shelf. That shelf isn’t going to home you, but the skills they learned from accomplishing that task will once get them closer to being able to build that house. So for all in this thread asking why work on this and not something else… I would say, they are, but to blindly walk into mystery will take longer than to build the knowledge and technique needed to conquer these mysteries.
This is an interesting idea. My son was stillborn with T21. And though those with the most severe cases don’t survive – you are correct that T21 isn’t necessarily a death sentence. But if there was a chance that a T18 or T22 baby, who has no chance at survival, could, in fact, survive… how extraordinary that could be! I’m thinking though, they would have to do routine amniotic tests (which carry a hefty miscarriage rate) early on in order to circumvent malformations (mental and physical). At 20 weeks (back in 2009), they had no idea that my son had T21 until months after his demise when UofM labs discovered it. They don’t diagnose T18 until about 22 weeks (according to Google), T13 is at 20.5 weeks. At some point there would have to be an early routine screening for a Trisomy issue. Which means they’ll likely develop a more effective (and less life threatening to the fetus) means of detecting chromosomal abnormalities other than through an amniocentesis. Which would potentially be better all around. I am astounded at science and what humans are capable of figuring out!! I look forward to the day where this successfully becomes a reality. To think that, in a potentially different time, my son could’ve survived? It gives me chills. Here’s hoping and praying for all the Tbabes and their families!!
Here is hope:
“In recent years, noninvasive prenatal diagnosis (NIPD) technology for fetal genetic material in maternal peripheral blood has developed rapidly, which makes it possible to diagnose genetic diseases by fetal cells in maternal peripheral blood. This article reviewed the current status of fetal cell separation and enrichment technology and its application in noninvasive prenatal diagnosis technology.”
https://doi.org/10.1155/2022/7131241
So eugenics.
Exactly. Evil ALWAYS piggy backs on good.
The American Eugenics movement used the same emotionally driven subjects to claim relief from mental and physical disease/deformity, when the goal was a “master race”. It was the SAME people (elite 1%) who funded eugenics here, that funded the rise of Hitler and the 3rd Reich, so that they could continue their horrific experiments without the scrutiny of US citizens. They simply went underground,only to emerge after WW2 with a public relations make over as the liberal progressives. After all, if you oppose “progress” you’re automatically discredited, right? “Trust the science” was the beginning of the new propaganda expediting this globalist reign of terror.
There are practical and ethical problems that are looked at, and there is neither “eugenics” nor religious “evil” going on.
Theres nothing wrong with downsyndrome people, they were also made in the image of God.
Who said anything was wrong with DS people? It’s still a genetic disorder and if some therapy was available why not do it. If your kid was a sociopath at birth and they found the portion of the brain that caused it and couldn’t fix it wouldn’t you? It’s really a QOL thing.
Could*
I have a son that has DS and he is 29 soon to be 30. I don’t want them editing who he is and I’m concerned that would happen. I would like to see all of the things that the third chromosomes effect such as the heart, cancer, physical structures in the bones that can cause weakness etc. Addressed. I don’t worry so much about Shandon I worry about the typical human being who makes fun of him, who treats him as if he isn’t there when talking to me. Human ugliness needs gene editing first in my eyes.
You said it!!!! ❤❤❤❤❤
Evolution is a natural process that produce imperfect copies, there is nothing inherently correct or wrong with that. There are practical and ethical problems with applying gene editing methods on humans.
Great, eugenics
No.
You know what would fix this? Make a law that people need to all get their genetics tested and not allow people with incest in their bloodlines to breed. Poof. This goes away within a couple of generations.
Incest is rare and the recessives are not caused by it but exposed, these methods can’t eliminate occurrence of recessives. E.g. trisomy 21 will continue to happen.
My 30 year old Down Grandson hates having Downs. I don’t see gene splicing helping him. Unless they learn to build a Human from scratch.
Trisomy 21, which causes Down Syndrome, is the only survivable trisomy condition. Our daughter had trisomy 13 in the womb, and we lost her at 6 months in utero. This technology has potential for eliminating all trisomy conditions, and to say that God should be defaulted to is a simplistic copout and an insult to any parents who have had to suffer with the loss of a child. If it’s all God’s will why have any medications at all, or, for that matter, braces and eyeglasses?
It used to be that “the problem of evil” was considered the god stopper for everyone but god botherers.
[Now of course modern cosmology has showed that there is no omnipotent magic agency at play. Since 2016 we know from Planck observations that robustly and beyond reasonable doubt the space expansion process that produces the universe and it is an entirely natural process. So who cares about the religious concept of “evil”? But we do care about preventing suffering – we are human.]
Please leave this perfect babies alone. They love unconditionally as we were meant to love.