Differently Abled and Our Glorious Gadgets
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Identical twins, one with Down syndrome the other one without: a genetic mystery

Identical twins, one with Down syndrome the other one without: a genetic mystery | Differently Abled and Our Glorious Gadgets | Scoop.it
A rare occurrence in the earliest days of a pregnancy produces an unusual and mystifying outcome: Identical twin fetuses are conceived of the same meeting of egg and sperm. And despite their shared DNA, one of the twins has Down syndrome (the most common genetic cause of intellectual impairment), but the other does not.

 

But these aborted identical twins -- one with an extra copy of chromosome 21 and the other without -- offered scientists a remarkable opportunity: given the twin fetuses' otherwise exact DNA match, how would this one difference translate across the genome?

 

That natural experiment allowed a group of geneticists from Switzerland, Spain, the Netherlands and France to distill some fundamental insights into how chromosomes -- and the genetic blueprints they contain -- dictate the behavior of cells across the body. They found that when gene expression is altered by, say, an added chromosome, it is altered in consistent patterns in every chromosome, not just the one with the irregularity.

 

A few things follow from that: First, it lends credence to scientists' long-running suspicion that chromosomes -- between 50 and 100 base pairs of DNA -- may be organized along functional lines, such that certain stretches of a chromosome may hold the genetic blueprint for proteins that work together in some predictable way. If they are organized functionally, they're not random. And if they're not random, they can (someday) be understood.

 

Trisomy 21 is the most frequent genetic cause of cognitive impairment. To assess the perturbations of gene expression in trisomy 21, and to eliminate the noise of genomic variability, we studied the transcriptome of fetal fibroblasts from a pair of monozygotic twins discordant for trisomy 21. Here we show that the differential expression between the twins is organized in domains along all chromosomes that are either upregulated or downregulated. These gene expression dysregulation domains (GEDDs) can be defined by the expression level of their gene content, and are well conserved in induced pluripotent stem cells derived from the twins’ fibroblasts. Comparison of the transcriptome of the Ts65Dn mouse model of Down’s syndrome and normal littermate mouse fibroblasts also showed GEDDs along the mouse chromosomes that were syntenic in human. The GEDDs correlate with the lamina-associated (LADs) and replication domains of mammalian cells. The overall position of LADs was not altered in trisomic cells; however, the H3K4me3 profile of the trisomic fibroblasts was modified and accurately followed the GEDD pattern. These results indicate that the nuclear compartments of trisomic cells undergo modifications of the chromatin environment influencing the overall transcriptome, and that GEDDs may therefore contribute to some trisomy 21 phenotypes.


Via Dr. Stefan Gruenwald
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Nick Ure's curator insight, December 19, 2014 10:08 AM

?- Questions 

Star- Important

Vocab- words you dont understand

HgI- How you get it

E- Effects on Life

D- Description of disease

C- trying to create cures  

 

in text citation( genetic) 

 

* A rare occurrence happened to a pair of twins. Identical twins fetuses are conceived of the same metting of egg and sperm.  They share their DNA, but one of the twins has down syndrome.  The weird thing is that a labor to understand is that 3 billion base pairs of DNA result in pretty much a single human. That is very hard to have when they are twins and have the same DNA. That is very interesting.

 

* These aborted twins have an extra copy of chromosome 21 and one of them will be with out because only one has down syndrome which is very rare and hard to do. 

 

* Some experiment allowed a group of geneticists to distill in how chromosomes and that genetic blueprint that they have contained can dictate the behavior of cells all across the body.  If you add a chromosome, it is altered in consistent patterns in all the chromosome, not just that one with the irregularity.

 

*  If you want to identify a treatment for a genetic mutation such as down syndrome, you may or may not have to go to the source of it. The extra chromosome 21. You can fine or seek alter gene expression almost anywhere in the genome. That is how far-flung the effects of the mutation are all about. 

 

 

 

 

Differently Abled and Our Glorious Gadgets
Articles on the joys and challenges of being differently abled and the gadgets that help us be independent and productive.
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These exoskeleton heels could help stroke victims walk again

These exoskeleton heels could help stroke victims walk again | Differently Abled and Our Glorious Gadgets | Scoop.it
It isn't quite the soft exosuit that DARPA's working on, but scientists have developed a lightweight exoskeleton that'll take some of the work out of walking.

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People with Disabilities Earn 37% Less on Average

People with Disabilities Earn 37% Less on Average | Differently Abled and Our Glorious Gadgets | Scoop.it
Among workers with high school degree or equivalent, those with disabilities earned on average less than their peers.

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IPAD TEACHERS | Add Sign Language videos to iPad movies

Add Sign Language Videos in iMovie App

In the past we have used the titles tool in iMovie for iPad to add subtitles to videos in school for creating...

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Cindy Rudy's curator insight, March 17, 2015 10:41 AM

This add a whole other dimension in the form of accessibility.

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50 Online Early Readers (with audio) - mattBgomez

50 Online Early Readers (with audio) - mattBgomez | Differently Abled and Our Glorious Gadgets | Scoop.it
I found an awesome website that has over 100 early readers with audio! The site is Unite For Literacy and I took the first 50 of the books and created a Symbaloo webmix for my class. The best part is these books work on the iPad as well! I will make another webmix of 50 more books soon.

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Great site for children's books with audio!

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How the Human Brain and Skull Connect May Have Implications for Spina Bifida and Chiari Malformations Treatments

How the Human Brain and Skull Connect May Have Implications for Spina Bifida and Chiari Malformations Treatments | Differently Abled and Our Glorious Gadgets | Scoop.it
Researchers discover network of tissue communication that ensures the brain and spinal cord are matched with the skull and spinal column during embryonic development.

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MyStorybook.com - Free Storybook Making Online

MyStorybook.com - Free Storybook Making Online | Differently Abled and Our Glorious Gadgets | Scoop.it

Write and share your very own storybooks with this free online app!

 


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A.K.Andrew's curator insight, September 25, 2014 5:59 PM

Looks like a great tool for young and not so young!

natasha dcosta's curator insight, October 3, 2014 11:40 PM

teachers and technology 

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Music Therapy Can Help Stop Violence In Special Needs Children

Music Therapy Can Help Stop Violence In Special Needs Children | Differently Abled and Our Glorious Gadgets | Scoop.it
Music therapy can help children with ASD or ODD to stop violent behavior and assist with developing cognitive functioning, social skill interaction, and grade point average.

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Jewish Quarter of Old City to become wheelchair accessible - Jerusalem Post

Jewish Quarter of Old City to become wheelchair accessible Jerusalem Post. A NIS 20 million initiative spearheaded by the Jerusalem Municipality, Bituach Leumi and the Jerusalem Development Authority will make the Jewish Quarter in the Old City and...


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Scientists bypass spinal cord non-invasively to trigger walking

Scientists bypass spinal cord non-invasively to trigger walking | Differently Abled and Our Glorious Gadgets | Scoop.it

Japanese researchers have created an “artificial neural connection” (ANC) from the brain directly to the spinal locomotion center in the lower thoracic and lumbar regions of the spine, potentially one day allowing patients with spinal-cord damage, such as paraplegics, to walk.


The study led by Shusaku Sasada, research fellow, and Yukio Nishimura, associate professor, both of the National Institutes of Natural Sciences (NINS), was published online in The Journal of Neuroscience on August 13, 2014.


Neural networks called “central pattern generators” (see Ref. 2 and 3 below) in the locomotion center (lower than the lesion site) are capable of producing rhythmic movements, such as walking, even when isolated from the brain, the researchers suggest.


The researchers worked with neurologically intact subjects who are were asked to allow the computer to passively control their leg movements.


As a surrogate, the researchers used muscle signals normally generated by the arm movements associated with leg movements. These signals were used to control a computer-driven magnetic device that non-invasively (externally) stimulated neurons in the spinal locomotion center.


Additional simultaneous peripheral electrical stimulation to the foot via the ANC enhanced this walking-like behavior. Kinematics of the induced behaviors were identical to those observed in normal voluntary walking. The researchers said they are planning clinical studies in the near future.


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California Hospital Blood Tests Vary from $10 to $10,169 for Identical Test

California Hospital Blood Tests Vary from $10 to $10,169 for Identical Test | Differently Abled and Our Glorious Gadgets | Scoop.it
Research shows significant price difference for blood tests in California hospitals, with some patients charged $10 for one test and others charged $10,169 for identical test.

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List of the Best Private Special Needs Schools

List of  the Best Private Special Needs Schools | Differently Abled and Our Glorious Gadgets | Scoop.it
List of the best U.S. private schools for special needs students based on educational offerings, student to faculty ratio, awards won, and extra-curricular activities.

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Jewish Special Needs Education: Removing the Stumbling Block: Our Children Aren't Broken - Thoughts On How Society Treats Disability

Jewish Special Needs Education: Removing the Stumbling Block: Our Children Aren't Broken - Thoughts On How Society Treats Disability | Differently Abled and Our Glorious Gadgets | Scoop.it

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Lisa Friedman's curator insight, July 21, 2014 7:28 PM
When we spend our lives trying to “fix” our children and our students; no matter how pure our intentions, we perpetuate a societal concept of “normal” that views disability as broken. - See more at: http://jewishspecialneeds.blogspot.com/2014/07/our-children-arent-broken-thoughts-on.html#sthash.IxIYYxWl.dpufDo you know Jonathan Mooney? You need to. He’s awesome. This past Spring I heard him speak and I’ve recently finished reading his book, “The Short Bus: A Journey Beyond Normal”. - See more at: http://jewishspecialneeds.blogspot.com/2014/07/our-children-arent-broken-thoughts-on.html#sthash.IxIYYxWl.dpufDo you know Jonathan Mooney? You need to. He’s awesome. This past Spring I heard him speak and I’ve recently finished reading his book, “The Short Bus: A Journey Beyond Normal”. - See more at: http://jewishspecialneeds.blogspot.com/2014/07/our-children-arent-broken-thoughts-on.html#sthash.IxIYYxWl.dpuf
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Recent U.S. Disability Statistics from the Census Bureau

Recent U.S. Disability Statistics from the Census Bureau | Differently Abled and Our Glorious Gadgets | Scoop.it
The U.S. Census Bureau provides American disability facts for features for the anniversary of Americans with Disabilities Act on July 26 .

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Free to Low-Cost Assistive Technology Solutions - YouTube

Oklahoma ABLE Tech explores free to low-cost assistive technology solutions. Categories featured include reading, vision, hearing, handwriting/keyboarding, c...

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Adaptive Clothing & Footwear: Information & List of Stores

Adaptive Clothing & Footwear: Information & List of Stores | Differently Abled and Our Glorious Gadgets | Scoop.it
Information on adaptive clothing designed for people with disabilities or mobility challenges and seniors who may have difficulty dressing themselves.

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Disabled World's curator insight, March 25, 2015 5:30 PM

With adaptive clothing, a disabled or elderly patient can retain dignity, can provide some level of self-care, and experience the added comfort of quicker access to medical appliances and needs for both them and for a nurse or physician.

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My Emotions Chart – Helping your child identify and understand emotions | Patient Talk

My Emotions Chart – Helping your child identify and understand emotions | Patient Talk | Differently Abled and Our Glorious Gadgets | Scoop.it
RT @AutismTalkASD: A free chart which can help your child with autism identify emotions... http://t.co/GVJt0j5v1P

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Penalties and Fines for Hospitals that Treat the Poor

Penalties and Fines for Hospitals that Treat the Poor | Differently Abled and Our Glorious Gadgets | Scoop.it
Last week, the federal government revealed that it will fine more than 2,600 hospitals in the coming year, because too many Medicare patients treated at these hospitals are ending up back in the hospital within 30 days of going home. Two new conditions have been added in this round of penalties: elective hip and knee replacement, and chronic lung disease.

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Guide to Adaptive Skiing Resorts

Guide to Adaptive Skiing Resorts | Differently Abled and Our Glorious Gadgets | Scoop.it
There have been many ground-breaking introductions of adaptive ski equipment over the years. The first ski outriggers were created around 1970. These were followed by a list of other game-changing devices in the sport including the ski bra in 1974, which prevents ski tips from crossing, the first sit ski in 1978 and the mono ski in 1984.

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Starting to consider holiday vacations? Here's some info that might help.

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8.4M in Funding for Employment Opportunities for People with Disabilities

8.4M in Funding for Employment Opportunities for People with Disabilities | Differently Abled and Our Glorious Gadgets | Scoop.it
$8.4M in continued funding to improve employment opportunities for people with disabilities announced by US Labor Department.

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How to connect to hearing aids for auditory accessibility on your iPhone or iPad - iMore

How to connect to hearing aids for auditory accessibility on your iPhone or iPad - iMore | Differently Abled and Our Glorious Gadgets | Scoop.it

"The iPhone and iPad come equipped with some great accessibility features that open the door to all kinds of functionality for those with hearing and visual impairments. One especially useful feature for those with auditory impairments is the ability to pair their iPhone or iPad with many supported hearing aids. There are even some hearing aids that carry the made for iPhone moniker so you know your experience will be seamless. To get started, you've just got to pair them together! "


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Washington, DC: Top 5 Wheelchair Accessible Attractions

Washington, DC: Top 5 Wheelchair Accessible Attractions | Differently Abled and Our Glorious Gadgets | Scoop.it
Almost every aspect of the city is wheelchair accessible; from the metro to all attractions and landmarks. After all, what would you expect from the...

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‘Shape-memory polymer’ material could help reconstruct faces

‘Shape-memory polymer’ material could help reconstruct faces | Differently Abled and Our Glorious Gadgets | Scoop.it

Injuries, birth defects (such as cleft palates) or surgery to remove a tumor can create gaps in bone that are too large to heal naturally. And when they occur in the head, face or jaw, these bone defects can dramatically alter a person's appearance. Researchers will report today that they have developed a "self-fitting" material that expands with warm salt water to precisely fill bone defects, and also acts as a scaffold for new bone growth.


Currently, the most common method for filling bone defects in the head, face or jaw (known as the cranio-maxillofacial area) is autografting. That is a process in which surgeons harvest bone from elsewhere in the body, such as the hip bone, and then try to shape it to fit the bone defect.


"The problem is that the autograft is a rigid material that is very difficult to shape into these irregular defects," says Melissa Grunlan, Ph.D., leader of the study. Also, harvesting bone for the autograft can itself create complications at the place where the bone was taken. Another approach is to use bone putty or cement to plug gaps. However, these materials aren't ideal. They become very brittle when they harden, and they lack pores, or small holes, that would allow new bone cells to move in and rebuild the damaged tissue.


To develop a better material, Grunlan and her colleagues at Texas A&M University made a shape-memory polymer (SMP) that molds itself precisely to the shape of the bone defect without being brittle. It also supports the growth of new bone tissue.


SMPs are materials whose geometry changes in response to heat. The team made a porous SMP foam by linking together molecules of poly(ε-caprolactone), an elastic, biodegradable substance that is already used in some medical implants. The resulting material resembled a stiff sponge, with many interconnected pores to allow bone cells to migrate in and grow. Upon heating to 140 degrees Fahrenheit, the SMP becomes very soft and malleable. So, during surgery to repair a bone defect, a surgeon could warm the SMP to that temperature and fill in the defect with the softened material. Then, as the SMP is cooled to body temperature (98.6 degrees Fahrenheit), it would resume its former stiff texture and "lock" into place.


The researchers also coated the SMPs with polydopamine, a sticky substance that helps lock the polymer into place by inducing formation of a mineral that is found in bone. It may also help osteoblasts, the cells that produce bone, to adhere and spread throughout the polymer. The SMP is biodegradable, so that eventually the scaffold will disappear, leaving only new bone tissue behind. To test whether the SMP scaffold could support bone cell growth, the researchers seeded the polymer with human osteoblasts. After three days, the polydopamine-coated SMPs had grown about five times more osteoblasts than those without a coating. Furthermore, the osteoblasts produced more of the two proteins, runX2 and osteopontin, that are critical for new bone formation.


Grunlan says that the next step will be to test the SMP's ability to heal cranio-maxillofacial bone defects in animals. "The work we've done in vitro is very encouraging," she says. "Now we'd like to move this into preclinical and, hopefully, clinical studies."


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Thoughts on Ableism in America Today

Thoughts on Ableism in America Today | Differently Abled and Our Glorious Gadgets | Scoop.it
Thomas C. Weiss writes on ableism in America today including federal and state policies.

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5 Practical Steps to Getting Started on a Family Budget | Marla Murasko's Musings From A Special Needs Mom | special needs, family, fashion, travel and more

5 Practical Steps to Getting Started on a Family Budget | Marla Murasko's Musings From A Special Needs Mom | special needs, family, fashion, travel and more | Differently Abled and Our Glorious Gadgets | Scoop.it

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Non Accessible Tourism Costing Economy Billions

Non Accessible Tourism Costing Economy Billions | Differently Abled and Our Glorious Gadgets | Scoop.it
Researchers find European tourism sector losing out on 142 billion a year due to poor infrastructure, services and attitudes towards travelers with disabilities.

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