Scientists silenced the extra copy of a chromosome that causes Down syndrome in laboratory stem cells, offering the first evidence that it may be possible to correct the genes responsible for the disorder.
The findings, published today in the journal Nature, offer new cell models for developing potential treatments, researchers said. The models, aided by gene-manipulating technology from Sangamo Biosciences Inc. (SGMO), may help researchers discover drug targets for other ill health effects that come with the syndrome, including heart disease, hearing difficulties, and weakened muscles.
This is incredibly hopeful news for millions of afflicted individuals world wide. And the findings will hopefully lead to some actual treatments that will increase the mental acuity, cure the physical impairments, and ultimately prolong the life of this population.
I have worked with a number of teens diagnosed with Down syndrome and it can be quite challenging, especially when you witness what a struggle it is for them to communicate with others and navigate past obstacles, both physical and mental, which cause little difficulty for their peers.
It is somewhat ironic that science has developed this procedure after certain fans of the Grizzled Mama declared that only prayer could ease the suffering of perhaps the most famous Down syndrome afflicted child in the country.
Do you remember this:
"Science has no way to undo this condition, which is the result of an extra chromosome; but God can. When Trig Palin is found to be miraculously healed, everyone but the most hardened atheist will have to acknowledge God's Majesty!" Pray 4 Trig, the "Worldwide Day of Prayer to Heal Trig Palin."
Gee who would have thought that people working hard in a laboratory would make progress in solving a problem that stymied a bunch of people kneeling on the floor and murmuring into their hands?
What pisses me off about these "Christians" is their total disregard for science. I have a different perspective...could it be that God has blessed some people with the brilliance to cure some of the world's problems...if only the rest of us had the sense to listen to them?
ReplyDeletesorry Deni, but that's completely illogical. First, it contradicts that omnibenevolent and omniscient and omnipotent God thing. Second, google Ockhams razor.
Deleteoccam's
Deletedo you know what it is if you can't spell it?
And it really doesn't fit here.
"A bunch of people kneeling on the floor and murmuring into their hands" -- bwaahahahahaha! I just don't get religion...
ReplyDeleteBrilliant!!!!
ReplyDeleteYAY UMASS MEDICAL!
ReplyDeleteYAY SCIENCE!
here's more from the Boston Globe
http://tinyurl.com/lycf35n
Notice that the quitter queen is right on this, too. She'll probably have to hear about it reading IM.
ReplyDeleteI guess we'll find out if it becomes a FB post.........
" is right on this"
DeleteMeant to say "is right on top of this"
arghhhh
This development came about through stem cell research.
ReplyDeleteIf Sarah Palin is consistent with other right-wingers, she opposes stem cell research.
I wonder if she still does, when it comes this close to home?
'When Trig Palin is found to be miraculously healed, everyone but the most hardened atheist will have to acknowledge God's Majesty.' OMG!! Did she rilly say that? She is flippin' delusional
ReplyDeleteI could be wrong but I don't think that Sarah said that but rather the woman/person heading up the "world day of prayer for Trig" group.
DeleteThe only way Trig gets miraculously healed is if SArah gives him back and substitutes ruffles .
DeleteAnon 521, you make zero sense
DeleteReally 6:57?
DeleteExplain the ruffled ear baby in the kitchen and the convention perfect ear baby.
Was convention baby wearing fake ear molds?
I'll explain the baby's ear appearance.
DeleteKitchen baby was newborn...convention baby was same baby 15 months (or so) later. He grew up, and maybe got his ears fixed, or they just filled out, like the rest of him.
Boy are YOU a day late.http://tinyurl.com/mdh87rz
Deletefrom Lee Judge, Kansas City Star 7/18/2013 --have been laughing all day.............
ReplyDeletehttp://www.kansascity.com/2013/07/02/4326752/lee-judge-cartoon-archive-july.html
Palin made fun of government funding for fruit fly research. Fruit flies produce a new generation in four days so they are ideal as the first step in studying genetics. If the Republicans want to teach creationism instead of science, they won't understand gene therapy and how it can be used to help people.
ReplyDeleteyeah. The fruit fly dna statement by McCain showed his obvious disregard for science. I mean, even my relatively small school district had us breed fruitflies back in the late 70s to help understand genetics.
DeleteI am torn on this kind of stuff because there is this part of me that feels bad for those with DS to be basically told that THEY need FIXING/PREVENTION. My daughter is an absolutely beautiful human being who has Down Syndrome and I don't believe that God makes mistakes - we just aren't meant to have that kind of control over things like this..but then the other side of me knows the heartache involved with having a special needs child (and two of my three have them, so I know what I am talking about here) and that makes me feel it's a good thing, that others out there won't have to go through it. Double edged sword, and we need to proceed with caution here. My spirituality is at odds with my brain on this kind of thing.
ReplyDeleteJillyG
I hear you totally. Yet the part of me that has always wished my special needs child could be free of constraints makes me believe this isn't changing something bad, but opening up opportunities that otherwise wouldn't exist.
DeleteThere are all kinds of imperfections -- from eyeglasses to juvenile diabetes to heart murmurs, to cerebral palsy to many relatively obscure birth defects. All I can think of is the overwhelming freedom and joy that can be seen in the face of a child who's just run across a field, throwing a ball to his dog. I'd wish that for every child, and so I'm grateful for any scientific breakthroughs that can help make it a reality for everyone.
JillyG - I'm so furious at your silly statement that I can hardly compose a coherent response. Have you EVER taken any kind of drug to improve your quality of life? Antibiotics? Blood pressure meds? Asthma or allergy meds? Have you given such meds to your children? If you truly believe we aren't meant to have control over 'things like this' then you shouldn't be partaking of any of the wonders of science and medicine. Silly, Silly Jilly.
DeleteWow Jilly, that's some heavy duty denial, though I understand it's needed to cope. From what this sounds like, your children and trig won't be affected. Those genes are already expressing - and therefore much of the "hardware" is already formed. Thsi would be used in utero to turn off the gene.
DeleteAgreed 2:57. The only one's who say garbage like this and aren't hypocrites though still nutters are the church of Jesus Christ Scientist. They even think you can heal a broken bone through prayer - personally, when they inflict that shit on their kids, it is child abuse.
DeleteFuck you, Anon 3:39. Seriously, fuck you. I love my kids and do every fucking thing there is on this planet to help them live better lives - my kids get every therapy there is to help them because I DO believe that I have a responsibility to help them and NO I DO NOT PRAY. FUCK YOU. You have NO IDEA what I am talking about.
DeleteI wouldn't change my children, that's what I am saying. They live FULL and HAPPY and PRODUCTIVE lives. They are loved for who they are. I don't cry in my fucking cheerios because they have a disability. At the same time, I am wary of some of the tests and research that might make my beautiful children feel that they are something to be snuffed out. Do you not get that? NO, you must not, or you wouldn't fucking treat me like shit for making a very, very gentle comment on the matter.
Walk a mile, yk how that goes, right? We aren't supposed to be perfect! If you knew and loved someone with Down Syndrome (or autism, like my son has) you would never call me such horrible things. I support any and everything that makes ANYONE'S life better - and yeah, I can even get behind "preventing" in spite of my angst over this - but MY GOD, all I was doing was sharing my heartfelt thoughts about how in spite of the good that would come of it, it makes me a little bit sad for my kids who then grow up to feel that THEY are not OK. My whole job as their mom is to make them KNOW that they are PERFECT as they ARE. SO fuck you all who can't even hear that from my voice. I have been posting her for so long and I have never had that kind of a call out and I am PISSED OFF.
JillyG
It's not that they're TOLD they're lacking. It's that there are people who CARE about giving them TOOLS to create better lives. We all have things about ourselves that needs improving. NO ONE is above self-work.
Deleteof course, anon 6:57. That's my job as a mom. I don't argue that. I worry about the message they receive from a society that thinks that they are less than. Not that anyone TELLS them that. They aren't stupid, yk.
DeleteI call BS. Your 'beliefs" have nothing to do with it unless you have never sought medical attention for your children or yourself. BTW if there is a GOd then he made the flu, small pox, typhiod and ebola among many others.
DeleteJilly,
DeleteMy aunt, born in the 1930s was afflicted with Down’s. And as anyone living in that time will tell you it was a living hell to be a parent of a Down’s without the incredible amount of help, support and medical advances available today. My grandparents were devoted parents and my aunt was a handful sometimes, especially during adolescence. But, given my grandparents were well off and my grandmother did not have to work she was able to be the primary caretaker. Thankfully today, families who care for disabled children are able to get some financial help, their children are able to attend schools and generally people are better informed about people who are different.
I, unlike you do welcome genetic counseling, and did decide to not carry a pregnancy later in my life. I am thankful such choices are available and the vast majority of people do not believe biology is destiny when it comes to reproductive decisions.
The only time I saw my grandparents falter in their care for my aunt was when they became very elderly and realized they could not carry on as primary caregivers. Leaving my aunt to institutional care broke their hearts. My grandmother said it best: Nobody could take care of her daughter as well as she could.
I would not be so hard on people who feel differently than you. Nobody has the moral high ground in these choices and to think your children are being maligned actually is somewhat disingenuous as the amount of care and opportunity for disabled people today shows a lot of progress in how disability is viewed.
Biology plain and simple. And biology isn't infallible. But, things that can be bettered by biology being fixed should be. If you do not think your daughter needs fixing, then she doesn't! But if others think their kids muscle tone or coordination could be improved - then hey, they should have that choice!
DeleteJilly
DeleteIf you read this, sorry for the assholes.
I know exactly what you were trying to say and these fuckers can't express themselves without attacking you. Idiots.
You love your babies so much, they are perfect. They also happen to have DS.
I think it may be helpful to think of it this way:
Something "extra" happened.
Now, that makes your child special and everything that comes with that.
But perhaps, since it is something "extra" you can see how it is not "necessary" and in the future, there will be few to no people around who had that particular " extra" thing happen at birth.
Jilly, In one sentence you say we aren't supposed to be perfect; then in the same paragraph you say your children are perfect. Which is it? Imperfect or Perfect? We who acknowledge that we are not perfect take advantage of ophthalmologists, allergists, cardiologists and other specialists to help us overcome our imperfections because we need to be 'fixed'. FIXED! That is what this new therapy will do for Downs syndrome babies if treated in utero. I hope you understand how your statements are conflicted. Now - - go cry in your Cheerios.
DeleteI don't know how Sarah could be against such promising research that would preserve, extend, and improve life. But this poses quite the dilemma for her. On many occasions, she's said that Trig is perfect and attributes the DS to god. She also credits god with medical technology [ultrasound equipment].
ReplyDeletePerfection:
"I know fer sure that my son is perfect just as he is."
"And truly God so overwhelming us with-with joy and the recognition of his perfection, Trig’s perfection has been nothing but blessing..."
~Sarah Palin, Susan B. Anthony List luncheon, May 15, 2010
http://www.viddler.com/explore/rightscoop/videos/31/
"With Trig, my family and I, we get to see firsthand every day that there are society’s standards of perfection and then there’s God’s standard of perfection."
~Sarah Palin, Extraordinary Women’s Conference Tupelo MS, Oct 22 2011
http://thepeopleforpalin.com/videos/187-gov-palins-speech-in-tupelo
Technology:
"God’s given man technology [ultrasound] so we can measure life....we can see life at 12 weeks along...we can measure this little baby’s bones and see this neck."
[...]
"God knows what he is doing and how He provides for man -- this wisdom, this technology."
~Sarah Palin, Rainbow Omega, May 11, 2010
http://www2.nbc13.com/vtm/news/local/article/sarah_palin_draws_hundreds_to_rainbow_omega_fundraiser/152753/
She came out earmarks that fund science research during the 2008 campaign in her much criticized speech with the 'fruit fly' gaff.
http://scienceblogs.com/pharyngula/2008/10/24/sarah-palin-ignorant-and-antis/
http://thinkprogress.org/politics/2008/10/24/31264/palin-fruit-flies/
Perhaps, she'll receive a prophesy that god has changed his mind about how he wants to handle DS.
All to bring attention to Sarah. Truly exploitive and disgusting. The letter from his maker as a birth announcement was really hard to take.
DeleteYep - apparently god does change his mind.
DeleteAccording to the Book of Mormon, in 1978 god changed his mind about black people!!
We can thank SP for one thing, she introduced us to Trig. Through him we have learned a lot about Down Syndrome. We seem to forget, however, that while all those people were praying, SP was on the road making everyone aware of what a gift Trig was. In that process she raised a lot of money for science so in the future other children like him would not be so handicapped. Oh, she didn't? She raised money for herself? I think maybe "God" sent him to the wrong family.
ReplyDeleteGod certainly sent him to the perfect family for a DS child.
Delete6:56 -- HAHAHAHAHAHA. Yeah, right, tell me ONE thing they've done for him. ONE. Except pawn him off except for photo ops.
DeleteNow is your time! We're waiting..........
656, are you saying he was a punishment? That isn't the way I see it. I was thinking of it from Trig's point of view. Sorry.
DeleteMaybe 6:56 was being snarky....? God sent Bristle a DS kid so that Sarah could swipe it and then fake it and then become VP nom and then maybe president and then incite www3 that she the other dominionists believe is needed to usher in the return of jeebus in our lifetime!!! Weee!!!
DeleteToo bad. So sad. It didn't work out for her. And soon she'll be selling wonder woman bracelets on midnight infomercials and whatnot.
Maybe scientists really are smarter than god.
ReplyDeleteMaybe God created scientists. .
DeleteMore of Sarah's fucked up friends:
ReplyDeletehttp://www.huffingtonpost.com/2013/07/18/gop-anti-immigration_n_3618392.html?utm_hp_ref=politics
lol LOVE how you group everyone together and assume things without knowledge.
DeleteAny comments from you on WHY unions HATE Obamacare NOW?
Because of fair market competition? Look at my thumb.....
DeleteThis week I watched the HBO documentary ("Reel Crash") about Kevin Pearce, the young Olympian snowboarding hopeful who suffered a very serious injury just a couple of months before the Vancouver games. He has a younger brother who has Down Syndrome. The family interactions depicted in the documentary with their youngest child are simply beautiful. He speaks from the heart and eloquently despite his speech difficulties. It's a wonderful film that raises all sorts of questions and issues that need to be addressed about "extreme" sports and the corporations that underwrite them but it also shows a very connected, good and loving family.
ReplyDeleteBeaglemom
I was just coming here to add a link to a part of the doc in which Kevin's brother talks about his condition. From a post on Gawker:
Deletehttp://gawker.com/snowboarders-brother-with-down-syndrome-was-the-crash-802223214
He is amazingly high-functioning and is able to contemplate his condition and register his frustration with it. "Down's syndrome sucks". He leaves no doubt about it.
It is a complex issue though. Most with DS truly do exhibit the kinder behaviors of being human. What if this treatment turned more of them into being assholes like many "normals".
Thanks for the link. Well worth watching!
DeleteThat was a good docu.
DeleteOf course I got the name of the documentary wrong! It's "The Crash Reel" but, you're right, Anon at 3:49 pm, the part where David, the boy with Down Syndrome, discusses how he feels about his condition is just amazing.
DeleteBeaglemom
Life is way better today for Down Syndrome children and adults. The 1960s and 1970s were awful. I babysat a wonderful child/woman for an older nurse friend of mine whose daughter had downs. As a child she would spend most of the day in rehab so her mother could work and she could get therapy. She was horribly mistreated while there. She had cigarette burns and other scars I that could not identify. My nurse friend had to take her daughter out of rehab and try to get therapy for her on her own while still trying to work to support them both. When I began taking care of the child/woman she was 43 years old and could not bathe or feed herself. I believe this was because of the abuse and lack of much needed therapy. She was a very happy person and she and I enjoyed many hours playing and my reading stories to her. She just wanted human contact and kindness and she gave lots of hugs and kisses in return. I really hope there can be some cure not only for the condition but for the (continuing) stigma that comes with it.
ReplyDeleteRemember the Book, Flowers For Algernon, and the movie, Charley? 1960's.
ReplyDeleteAbsolutely! LOVED that movie...DS was in our family, but we worked for awareness at that time when it was termed "mongoloid," not stupid photo ops as is $arah and tribe. They don't give one SHIT about him.
DeleteOne of my favorite books of all time ever!! I still get teary thinking of Charly....and Algernon
DeleteNot quite the same since this would be in utero so no major reversal of self...
DeleteJust someone born without DS - No more no less.
Those types of religious zealots are a rare find in the huge, bustling world. Even Sarah Palin would acknowledge the good of science. Roping all those "who believe" together is juvenile.
ReplyDeleteI worked at an elementary school and we had a few kids with DS in attendance. Two were incredibly docile. One had little impulse control (I believe he was a more extreme case). The latter and I became good friends. It just requires patience. I can't say if these children, in receiving excess quantities of love and affection, would fare better emotionally, academically, physically, but I'd love to think it so. In that case, children like Trig, blessed with warm homes where hugs are in abundance, esp to him, are beyond lucky. You've seen how attentive he is, how well he listens, even a few years ago.
ReplyDeleteYou've seen how attentive he is, how well he listens, even a few years ago.
DeleteWE have? I thought he was basically deaf so not hearing a damn thing. He isn't speaking and still seems to eat puddinglike food - tells me he ain't gettin any sort of intense oral therapy.
Yeah, "warm home"??
DeleteThe Palins?!?!
Only when the crazy bitch has her little fire place roaring!
Stone cold ice bitch, that Sarah Palin
BTW, for those of you who are so quick to judge me as someone who must be some kind of whack job for being torn on this stuff...my daughter with DS is a three years in a row state champion gymnast in our Special Olympics - and she is a competitive cheerleader and is brighter than many of the posters I see here and elsewhere *wink* My son who has autism is almost a blackbelt in karate (not a kid's black belt, btw - our dojo does not give them to anyone until 16 at LEAST) and he's only 11...works his ASS off...and my husband and I do everything we can to help them reach every goal they/we set. My oldest daughter who has no special needs is also a multiple year state champion gymnast, too fwiw - we treat all of our kids the same. I am NOT an idiot and our family does not in any way neglect our special needs kids. Why the hell would you guys even suggest that? Why the hell do I have to say this? I am just SAD. SAD that while I love my daughter who has Down Syndrome and wouldn't change her even if I could, that society views her as a diseased person who needs to be cured - and yet, as I SAID, I also get it on another level. I do. I wouldn't WISH it on anyone else but the truth is I wouldn't wish it away, either. I am a count my blessings kind of person. And I am sorry for all of my profanity in my other post - this hits a major nerve.
ReplyDeleteJillyG
And what plans do you have for your DS daughters future? Is there money enough to see to her needs? Or is she going to live in a group home and have very little income left out of her disability? And don't say her brother will do it, because you don't know.
DeleteAnd you are saying you wouldn't seek treatment to help your daughter? Why? Why wouldn't YOU want her to be all she can?
I've fostered and adopted kiddos with issues and I can't imagine not seeking the best for them. My deaf Grandson just got a cochelar implant and is no longer deaf, it's not that we didn't love him when he was, but HIS life is easier now.
Well said, Anon. I applaud Jilly for the help and support she gives her kids, but at some point, she will not be around. My daughter-in-law's sister has some severe handicaps. Right now her dad is still able to care for her (she's 31 and will never live even in a group home, nor hold any kinds of job.) When the mother died, and she aged out of the public schools at 25, he had to retire. She gets a government check (not that he needs it, being a retired tax attorney) and that helps with bringing in a woman to take over a few hours a day.) I also know a family with three autistic kids...they get some nice government help as well, that pays for music lessons and other things for the boys. I assume Jilly's government aid helps with the gymnastic lessons and uniforms. And that's fie, but some day, those kids are going to be older, be adults, and I'd think that anything we can do to help them function independently is great. I don't often agree with the GOP, but working taxpayers are necessary for this society to continue.
DeleteChill Jill.
DeleteSeriously if someone could miraculously take away your kids' disabilities, wouldn't you let them?
I had an interesting conversation with a friend yesterday. She has a child who is a gifted athlete - but in our town, all sports are integrated, so all kids play on the teams. It really is unfair to this kid who has to play volleyball on teams with DS kids who are not good players. Anyway, they end up ponying up alot of money to play in various club sports all over the county so that she has the chance to really develop. At 12 she is playing Vball with 16-17 year old girls - she is that good. Now that she has the chance to shine on these teams, she is enjoying the chance to play local ball with the other girls much better and has more patience with the other players. However, if her parents couldn't afford to develop her elsewhere, only being able to play on an integrated team is as unfair to her as it would be to NOT allow those DS kids to play. And if your goal is to go to a Division 1 school = I guess around here you need to either move or be rich to join the club sports.
When she was a baby, she received therapy services through our county board of developmental disabilities - a birth to three program that is provided for any child with disabilities. After that, we paid for any services or therapies she needed in addition to what goes along with the services provided by public school.(ditto all of this for my son) We pay for her therapies with the help of the insurance that my husband's job provides. My husband and I have trust funds set up to assure that our daughter is never put into institutional care - money that will go to the guardians we have chosen to care for her when the day comes that we are not here to do so. As for her sports and other activities, we pay for those and all of the equipment just as we do for our other children - out of our own pockets. We are very lucky to have the income to be able to do the things we do for our children (not that I think my husband's success is luck, btw )And to the person who used the anecdote about the child with DS holding a gun for thugs to rob a store? Give me a break - my daughter would know that was not a good idea because we have raised her to know right from wrong. The context of my "unjaded" comment was obviously lost on you.
DeleteWe actually have some real career path considerations for her - she is not going to be passed off like some burden to society. That's not good enough for my kid - any of my kids - and it shouldn't be for anyone else. I know she is "higher functioning" than many others with disabilities, but it would be wrong to assume that we would do anything different if she weren't.
I am done with this conversation because honestly my heart hurts from it and I am not going to stew in it. I just wanted to respond to the false assumptions made here.
JillyG
I will go out on a HUGE limb and say that I think that Down Syndrome is a blessing. Have you ever met an UNjaded person? A person who loves fully and wholly without any reservations? A person who, while being more like everyone else than not - doesn't have a mean bone in their body? Who fears nothing because they honestly believe there is nothing to fear? Well, my daughter is that person. My life has been FOREVER changed because of her, and so have the lives of every person who knows her or my family. Why is this something to snuff out? I understand that not everyone is up to or willing or able to rise to the challenges that come with it, but are we EVER, for our kids who don't have a diagnosed disability? Just food for thought, here. I'm obviously upset with the posts from earlier and I apologize for serial posting but I have so much to share and this format makes "conversation" impossible ...
ReplyDeleteJillyG
Except for the heart issues, except for the muscle issues....
DeleteJilly, I'm one of those who supports you 110 percent. Some things we have in common are we're parents and we love our children unconditionally, if anyone doesn't see that in your posts, they haven't experienced unconditional love, and have no frame of reference.
DeleteI don't have a child with DS but have dealt with learning disabilities and finding the right approach to help my son.
I remember the outpouring of support IM and other "librul" blogs showed for Sarah's son, Trig, while she used him as a prop and held him up as a sacrament to her loyal followers, yet did little to nothing for DS Charities. She was trotting him out in crowds during the book tour while the first outbreak of H1N1 flu was pandemic, in winter and he wasn't dressed properly for the elements. A lot of us, men and women, were outraged.
Anyway, please know that someone understands and there's no need to apologize for anything, especially for accepting and loving your kids as they are.
I see your move and raise you two:
DeleteTrue story:
In Chester
PA, the criminals take the DS teenage kids and say "Here , hold this gun for me while we go shopping" So the DS kid holds the gun which scares the counter people, and the other kids rob the place.
Unjaded, innocent, etc. It is not always a good thing.
THe DS kids just want to be loved and accepted and blindly do what they are asked.
TRagic.
Yes, jilly.
DeleteYou and your husband are doing everything you can to help them make it-
But our job as parents is to get our children out on their own and live independent lives.
As people have pointed out; that is a very rare thing for DS adults.
And the fact is they ARE incredibly vulnerable because of their kindness and naivete.
The world is a very cruel and dangerous place.
anon 8:09, my daughter has a heart defect that didn't require surgery - we got LUCKY there, but it might need something later, we don't know yet. It is not healed. And her muscle tone was low at birth but she has had so much therapy that if you could see her now you would be shocked at how toned she is. I don't say this to be bitchy or to shock you, but to tell you all that DS is not some terrible thing! She's so amazing and I really mean it!
ReplyDeleteJillyG
A couple observations about that photo: why is a boy of four (five?) in a high chair? Why is a DOG sitting on the tray of a high chair where food is placed? My God, unless someone was fastidious with bleach afterward, there are all kinds of issues with a dog's behind on a surface where food is served. And we know how clean the Palins are, in general. Disgusting!
ReplyDeleteI am glad to read about the scientific advances though. Hope the GOP doesn't cut funding so much that we never see this through.