New research published about Down Syndrome

I found an article about brain research in people with Down Syndrome.

Interesting................

Down Syndrome Neurons Show Synaptic Deficit

Tue, 2013-05-28 10:46

Be gentle.Karyotype of 21 trisomy (Down syndrome).Down syndrome, the most common genetic form of intellectual disability, results from an extra copy of one chromosome. Although people with Down syndrome experience intellectual difficulties and other problems, scientists have had trouble identifying why that extra chromosome causes such widespread effects. 

 

In new research published this week, Anita Bhattacharyya, a neuroscientist at the Waisman Center at UW-Madison, reports on brain cells that were grown from skin cells of individuals with Down syndrome.

 

"Even though Down syndrome is very common, it's surprising how little we know about what goes wrong in the brain," says Bhattacharyya. "These new cells provide a way to look at early brain development."

 

The study began when those skin cells were transformed into induced pluripotent stem cells, which can be grown into any type of specialized cell. Bhattacharyya's lab, working with Su-Chun Zhang and Jason Weick, then grew those stem cells into brain cells that could be studied in the lab.

 

One significant finding was a reduction in connections among the neurons, Bhattacharyya says. "They communicate less, are quieter. This is new, but it fits with what little we know about the Down syndrome brain." Brain cells communicate through connections called synapses, and the Down neurons had only about 60 percent of the usual number of synapses and synaptic activity. "This is enough to make a difference," says Bhattacharyya. "Even if they recovered these synapses later on, you have missed this critical window of time during early development."

 

The researchers looked at genes that were affected in the Down syndrome stem cells and neurons, and found that genes on the extra chromosome were increased 150 percent, consistent with the contribution of the extra chromosome.

 

However, the output of about 1,500 genes elsewhere in the genome was strongly affected. "It's not surprising to see changes, but the genes that changed were surprising," says Bhattacharyya. The predominant increase was seen in genes that respond to oxidative stress, which occurs when molecular fragments called free radicals damage a wide variety of tissues.

 

"We definitely found a high level of oxidative stress in the Down syndrome neurons," says Bhattacharyya. "This has been suggested before from other studies, but we were pleased to find more evidence for that. We now have a system we can manipulate to study the effects of oxidative stress and possibly prevent them."

 

Down syndrome includes a range of symptoms that could result from oxidative stress, Bhattacharyya says, including accelerated aging. "In their 40s, Down syndrome individuals age very quickly. They suddenly get gray hair; their skin wrinkles, there is rapid aging in many organs, and a quick appearance of Alzheimer's disease. Many of these processes may be due to increased oxidative stress, but it remains to be directly tested."

 

Oxidative stress could be especially significant, because it appears right from the start in the stem cells. "This suggests that these cells go through their whole life with oxidative stress," Bhattacharyya adds, "and that might contribute to the death of neurons later on, or increase susceptibility to Alzheimer's."

 

Other researchers have created neurons with Down syndrome from induced pluripotent stem cells, Bhattacharyya notes. "However, we are the first to report this synaptic deficit, and to report the effects on genes on other chromosomes in neurons. We are also the first to use stem cells from the same person that either had or lacked the extra chromosome. This allowed us to look at the difference just caused by extra chromosome, not due to the genetic difference among people."

 

The research, published in the Proceedings of the National Academy of Sciences, was a basic exploration of the roots of Down syndrome. Bhattacharyya says that while she did not intend to explore treatments in the short term, "we could potentially use these cells to test or intelligently design drugs to target symptoms of Down syndrome."

National Down Syndrome Registry. Research and progress

National Down Syndrome Patient Registry

What is the National Down Syndrome Patient Registry?

The NIH-supported National Down Syndrome Patient Registry will allow people with Down syndrome and their family members, researchers, and parent and support groups to share information and health history in a safe, confidential, online database. Users will be able to create and edit their customizable online profiles, share their profiles with other Registry users, and set reminders for medical care and other appointments and events. The Registry will also provide access to general information about Down syndrome, as well as de-identified statistical data based on user responses to survey questions.

When will the National Down Syndrome Patient Registry be available?

Currently, the anticipated launch date for the Registry is July 2013.

Who can access the Registry?

Those with Down syndrome and their families will need to provide their consent for the Registry before they can create their password-protected profiles. If a user gives permission to be contacted, then clinicians and researchers who are authorized will contact these individuals to see if they are interested in participating in research studies. The Registry will comply with all regulations and laws governing privacy, personally identifiable information, and health data.

Why do we need a National Down Syndrome Patient Registry?

Creating a national registry was a primary recommendation of the 2007 NIH Down Syndrome Research Plan, which helped set goals and objectives for the Down syndrome research field. The development of the national registry was also supported by the Down Syndrome Consortium, a public-private partnership established in 2011 to further the exchange of information on Down syndrome research and to implement and update the Research Plan.

http://downsyndrome.nih.gov/registry/Pages/default.aspx

Be gentle.

Year of the fetus?

"Year of the fetus" is what the headline reads.  Sounds like a great honor right?  Insightful research and technology developing to improve the lives of children?  New technologies to test for the "perfect" child?   Is is really the demise of the fetus with down syndrome and other genetic disorders?  I found this article on The Scientist.


What are your thoughts?

Year of the Fetus

2012 saw the birth of a handful of non-invasive genetic prenatal tests, but the young industry faces growing pains as legal and ethical questions loom. 

By Beth Marie Mole | December 18, 2012

Flickr, abbybatchelderIn the not-so-distant past, testing an unborn baby for Down syndrome and other severe genetic disorders required a procedure with a long, gruesome needle and an unnerving risk of miscarriage. But this year, doctors and pregnant women around the country welcomed a new option: a painless genetic screen performed on a sample of the mother-to-be’s blood.

Advances in DNA sequencing have given doctors the power to probe the small fraction of fetal DNA coursing through a pregnant woman’s veins. Approximately 3 to 10 percent of the cell-free DNA in a mother’s blood belongs to her baby, and these fetal blueprints are enough to determine if the baby has the wrong number of certain chromosomes—the cause of some inherited diseases, including Down syndrome. And, instead of an invasive procedure at 15 to 20 weeks of pregnancy, doctors can conduct a genetic screen of the mother’s blood as early as week 10 with a standard blood draw.

Though the technology behind non-invasive prenatal genetic testing officially debuted in October of 2011, this year saw the birth of the first generation of options, with three companies now offering such tests and a fourth on the way. The trending technology has met an expanding market of expecting parents opting for prenatal testing, as well as industry squabbles over patent rights. But perhaps most importantly, the promise of more powerful fetal tests in the near future may breed a new host of ethical questions facing parents and geneticists alike, as they struggle with how much genetic information they want to know and can interpret about an unborn child.  

The birth of an industry

In 2005, the San Diego, California-based biotech company Sequenom licensed technology to detect fetal DNA, building on the results of a 1997 Lancet study that found fetal DNA circulating in maternal blood. But the company stumbled into a messy scandal in 2009 over the first version of a sequence-specific test for fetal trisomy 21—the cause of Down syndrome. Top executives resigned after the company confessed that they had inflated clinical trial results for the test, called SEQureDx, and the Securities and Exchange Commission filed charges against the former head of research.

The company regrouped in 2010, however, and began developing a more accurate sequencing-based test using massively parallel shotgun sequencing (MPSS). MPSS provides blanket sequencing of all the cell-free DNA in maternal blood, which “allows us to estimate the relative amount of each chromosome,” said Dirk van den Boom, executive vice president of research at Sequenom. “So, the theory is that if a pregnant woman has a fetus with, for example, trisomy 21, then the relative amount of chromosome 21 will be elevated.”

After a wave of impressive clinical trial data, the company launched MaterniT21 in October 2011, which tests for trisomy 21, trisomy 18 (Edward’s syndrome), trisomy 13 (Patau syndrome), and determines the sex of the fetus. The results of the Down syndrome test were particularly precise, demonstrating greater than 99 percent accuracy. But, by this point, Sequenom wasn’t alone in the market for long.

In March 2012, Redwood City, California-based biotech company Verinata Health released Verifi—also an MPSS-based test for trisomies 21, 18, and 13. And in May, Ariosa Diagnostics of San Jose, California, introduced Harmony, which detects the same three trisomies using a different method called chromosome-specific sequencing. A fourth company, Natera, also in Redwood City, is preparing to unveil its test, Panorama, which uses a single nucleotide polymorphism (SNP)-based sequencing method to detect the same trisomies, with the addition of sex aneuploidies, which cause diseases such as Turners syndrome (X0).

Nationwide, investors have estimated that the market for these tests could be more than $1 billion, and the competition is getting fierce. Indeed, Sequenom says its test has continued to soar in the past year. “We’ve seen an extraordinarily good adoption rate,” said Ronald M. Lindsay, executive vice president of strategic planning at Sequenom, who predicts that they’ll provide more than 100,000 tests in 2013.

But the other companies are anxious to grab a share of the market, which has led to dizzying legal battles. In the past year, Sequenom, which holds a patent for genetic-based fetal DNA testing, has sent letters warning of patent infringement to Aria Diagnostics, which Sequenom has since sued; Verinata Health, which has since sued Sequenom; and Natera, which also filed a complaint against Sequenom, claiming that their product doesn’t infringe on Sequenom’s patent. Though there’s been no legal resolution yet, the US Patent and Trademark Office did issue a new patent earlier this month (December 6) to Sequenom for detecting fetal aneuploidy using MPSS.

Meanwhile, all four companies are continuing to improve their technologies and push their tests onto the market. Verinata announced this month that it’s expanding its test to include sex-based aneuploidies. And Natera plans to release its test—which can be done at 9 weeks, instead of 10 and includes sex chromosome aneuploidies—early next year. “We’re confident that nothing is going to get in our way,” said Gautam Kollu, vice president of marketing for Natera.

Early adopters

Genetics postdoc and expecting mother Erin Osborne Nishimura is one of the many patients trying out the new tests. “We decided to do [a sequencing-based] test the day we talked to the genetic counselor,” said Osborne Nishimura, who works in Jason Lieb’s lab at the University of North Carolina at Chapel Hill (UNC). “Being in an ’omics lab, it’s really exciting to get in on that action early on.”

At 36, Osborne Nishimura is considered to be of “advanced maternal age,” so she and her husband (a plant biologist at UNC) began sifting through the options for prenatal tests. The standard lineup of options includes invasive diagnostics, such as amniocentesis and chorionic villus sampling (CVS)—which take samples of fetal tissues for a direct look at the baby’s DNA, but carry risks of birth defects and miscarriages—as well as blood-based hormonal tests, which are safer but less accurate. The couple also considered that one test might lead to more tests: any positive results from an indirect blood test would need to be followed up with an invasive test, upping the time, number of procedures, and medical bills.

There are also the costs of the individual tests to consider. Like many new tests, most insurance companies, which typically take at least 2 years to cover new technologies, do not yet pay for the genetic-based tests. But this month, the American College of Obstetricians and Gynecologistendorsed such tests, paving the way for insurance companies to expedite the process. In the meantime, Sequenom capped the cost of MaterniT21—usually around $2,000—at $235 for women who have health insurance.

In the end, Osborne Nishimura and her husband decided to take the plunge and purchase a genetic test for their unborn child. They went with the MaterniT21—the only genetics-based test offered by their doctor’s office—because they trusted the technology and were impressed by the clinical trial data. But they then delved into the unavoidable ethical implications of taking such a test. Though their results raised no red flags about the baby’s health—thankfully—the couple was forced to consider how they might handle undesirable results, including whether to continue the pregnancy if the test returns an undesirable report, or how to begin planning for lifelong care of a child with a severe disorder. While these weighty questions come with all prenatal testing options, as genetic technologies continue to advance, they may allow parents to test for a wider swath of genetic diseases, which will only make considerations dicier.

The first pressing new dilemma revolves around the ability to detect sex chromosome abnormalities, which is offered by Verinata’s test and will soon be offered by Natera. “This will affect the complexity of genetic counseling tremendously,” said Emily Hardisty, a certified genetic counselor and coordinator of reproductive genetic counseling at UNC hospitals, which now offers tests from Sequenom and Verinata and counsels 2,000 to 3,000 expecting mothers a year. “There’s a lot of educational material about Down syndrome and trisomy 13 and 18, which we’re currently routinely screening for, but there’s not a lot of information about the sex chromosome abnormalities,” Hardisty said. “And they’re not all that well understood.” Thus, if a baby is given a diagnosis of a sex chromosome disorder—some of which have no treatments—it will not clarify what a child’s life would be like 30 years later, or even directly after birth, she explained.

Moreover, Sequenom and Verinata’s tests detect chromosomal abnormalities by sequencing the entire fetal genome. “At this point in time, there’s so much information to filter through,” Hardisty said. “And some of it may have clear clinical implications and some of it may not.” Indeed, while the companies offering the tests insist they will continue to only provide information on relevant medical conditions, genomic data could potentially reveal additional information as more is understood about the genetics that underlie rare diseases and cosmetic traits.

And beyond the screen results, the data itself opens new questions. Genetic privacy regulations that may one day guide such tests are still in their infancy. Mothers like Osborne Nishimura will have to grapple with how to tell her child that his or her genome has been sequenced, and, she added, “they’re not just sequencing fetal DNA, they’re sequencing my DNA, too.”

But for Osborne Nishimura, the ethical unknowns were worth not having to worry about the “what if”s of genetic disorders for the rest of the pregnancy. “Because, lord knows I can make up all sorts of other things to worry about.”

Correction, 12.19.2012: The original article incorrectly identified Natera's upcoming non-invasive prenatal test as preNatus. The correct test name is Panorama, while the name of the clinical trial in which Panorama is being tested is called PreNatus. The Scientist regrets the error. 

Be gentle.

Labels. Not for me please.

Labels, I DO NOT LIKE THEM!  But, unfortunately, I find myself surrounded by them.  It seems we all have labels given to us and we give labels to things and people around us.  My problem with labels is the stereotype associated with them.

What do you think of when you hear these words?  Fat?  Slow?  Confused?  Retarded?  Could it be that you suffer from a mineral or hormone deficiency?  Or could you have Down Syndrome?  See, labels are not what they seem to be.

When we were given my son's diagnosis of Down Syndrome, I had a lot of preconceived notions because of labels.  I was WRONG.  I had not clue what Down Syndrome was or how it was going to affect our family's lives. I worried when Davey started school and all of the labels he was given.   And boy, am I glad I was wrong.

Here is an article about a school in Indonesia for children with Special Needs.  Again, labels and the fear associated with them is a reason parents do not get the help their children need to succeed in life.

Breaking down the ‘fear of labels’

Prodita Sabarini, The Jakarta Post, Jakarta | People | Mon, August 06 2012, 9:42 AM

The fear of stigma against children with special needs is sometimes strong enough to keep parents in a state of denial, according to Rovanna Bawden from the Australian International School (AIS).

Bawden is AIS’ Student Support Center head. The center is a new unit for children with disabilities. As the only international school with a designated support center for children with special needs, Bawden said they attempt to break down the “fear of labels”.

Parents who have children with special needs are sometimes reluctant to get assessment from doctors, she said.

They fear that the diagnosis of disorders might come as a verdict of lifelong stigma that comes with labels of children with special needs or children with disabilities. And, some parents fear society’s misconceptions that come with those labels.

“A lot of parents think that ‘if I get an assessment from the doctor then my child will be labeled’ and sometimes they rather not know,” Bawden said.

“So, we’re trying to say that it’s not about finding the label, it’s about helping your child,” she said.

With more than two decades of experience in special needs education, Bawden is certain that the inclusion of children with special needs in mainstream education is essential for the development of a child’s social skills.

She joined AIS in January to head the Student Support Center. AIS founder Penny Robertson and Australia Ambassador Greg Moriarty will officially open the new center today.

Prior to AIS, Bawden headed the Guardian Angels School Learning Support in Brisbane, Australia. Her experience working at international schools stretches from Papua New Guinea to Japan and Thailand.

Bawden believes that parents of children with special needs should be open to sharing their problems in order to find a solution. “Don’t hide the problem. Share your problem and then everyone can help you to solve it,” she said.

Parents of children with special needs often provide homeschooling for their offspring. While the child receives devoted attention and affection, “they don’t get any social skills,” according to Bawden. “They just have mom and dad and that’s a very abnormal situation for the child,” she said.

“You’re not doing a favor really to your child to keep them in the house with you,” she added.

Parents’ worry about providing education for children with special needs is understandable. In Jakarta, parents of children with special needs still have very limited support, according to Bawden. A lot of parents must go to Singapore or Australia to get their children tested or to obtain therapies unavailable in Indonesia.

In 2009, the Education and Culture Ministry set up a regulation on inclusive education that obliges city administrations and regencies to appoint a school in each district as an inclusive school. According to data from the ministry, in 2011 there were around 1,680 special schools and 967 inclusive schools at the elementary and junior high level in Indonesia. Many, however, are still struggling to provide for students with special needs.

In the case of international schools, only AIS has a special unit for students with special needs. Robertson founded AIS in 1996 because she was unable to find an international school that could provide education for her child who has Down’s syndrome.

Bawden said AIS’ new support facility included a package of services that catered to students’ individual needs. Each student has a learning assistant, and the support center has specialists such as a speech therapist, occupational therapist and psychologist. “People come to us now,” she said, while before they had to refer students to Singapore or Australia. The special unit has been running since April with 17 students.

Bawden said that special needs students join mainstream physical education and music classes. She said that the main goal is to help students function as social human beings. “Second, of course, [to give] as much as possible a normal school experience. The goal is inclusion to mainstream,” she said.

“We’re not ever going to say that your kid will never leave this building. This is not for life,” she said.

To provide access to education for students with special needs, Bawden said that there is a need for schools to be open to differences. “Some schools are not so open to differences because they just want the academic grade, but if you look at life, life is not about academic grades, life is about having nice human beings,” Bawden said with a laugh.

“Because we can’t all be rocket scientists, we can’t all be doctors, but we can all try to be nice people and that’s the humanity part.”

I still worry about labels, not because of what they mean to me or I do not understand, but because of the fear and confusion caused by people who do not bother to look beyond the labels.  What are your thoughts?

Be gentle.

Research or reality? Drug that boosts memory for those with Down Syndrome?

Interesting research is making the news today regarding a medication that boosts memory in those with Down Syndrome.  This study was conducted the University of Colorado investigating the use of memamtine to increase .  This is exciting research of a drug that is used to treat patients with Alzheimer Disease.  Anything that can improve quality of life for my son and others with Down Syndrome is worth a long hard look.  I will continue to follow this research and see if it gets approved for use folk with DS.

What are your thoughts?

From the website Disability Scoop......

Drug Opens Door To Treating Down Syndrome

By SHAUN HEASLEY

July 18, 2012Text Size  A  A

In what’s being hailed as a major milestone in efforts to treat Down syndrome, researchers say they’ve identified a drug that boosts memory in those with the chromosomal disorder.

The medication memantine — which is currently used to treat Alzheimer’s disease — offered as much as a tenfold memory increase for those with Down syndrome, according to a studypublished Tuesday in the journal Translational Psychiatry.

“Before now there had never been any positive results in attempts to improve cognitive abilities in persons with Down syndrome through medication,” said Alberto Costa of the University of Colorado School of Medicine who led the study. “This is the first time we have been able to move the needle at all and that means improvement is possible.”

For the study, researchers conducted a 16-week trial involving 38 adolescents and young adults with Down syndrome. Half took memantine while the rest were given a placebo. Scientists then measured adaptive and cognitive function in the two groups.

While researchers found no major differences in most areas of functioning, those taking memantine exhibited significant improvement in so-called “verbal episodic memory.” This would include the ability to memorize a long list of words, for example.

“This is a first step in a longer quest to see how we can improve the quality of life for those with Down syndrome,” Costa said of the findings, noting that there are currently no drugs available to improve brain function in those with the disorder.

Despite the promising results, however, Costa warned that people with Down syndrome should not start taking memantine. He said further research is needed using a larger study group and the drug needs to be tested on younger individuals as well.

And from Science Daily.........

   

Drug Shown to Improve Memory in Those With Down Syndrome

ScienceDaily (July 17, 2012) — Researchers at the University of Colorado School of Medicine have found a drug that boosts memory function in those with Down syndrome, a major milestone in the treatment of this genetic disorder that could significantly improve quality of life.

"Before now there had never been any positive results in attempts to improve cognitive abilities in persons with Down syndrome through medication," said Alberto Costa, MD, Ph.D., who led the four- year study at the CU School of Medicine. "This is the first time we have been able to move the needle at all and that means improvement is possible."

The study was published July 17 in the journal Translational Psychiatry.

Costa, an associate professor of medicine, and his colleagues studied 38 adolescents and young adults with Down syndrome. Half took the drug memantine, used to treat Alzheimer's disease, and the others took a placebo.

Costa's research team hypothesized that memantine, which improved memory in mice with Down syndrome, could increase test scores of young adults with the disorder in the area of spatial and episodic memory, functions associated with the hippocampus region of the brain.

Participants underwent a 16-week course of either memantine or a placebo while scientists compared the adaptive and cognitive function of the two groups.

While they found no major difference between the groups in adaptive and most measures of cognitive ability, researchers discovered that those taking memantine showed significant improvement in verbal episodic memory. One of the lowest functioning individuals in the study saw a ten-fold increase in memory skills.

"People who took the medicine and memorized long lists of words did significantly better than those who took the placebo," said Costa, a neuroscientist specializing in Down syndrome research. "This is a first step in a longer quest to see how we can improve the quality of life for those with Down syndrome."

Currently, there are drugs that treat the symptoms of medical conditions associated with Down syndrome but nothing to improve brain function.

But in 2007 Costa demonstrated that memantine could improve memory in mice with Down syndrome. He then set out to replicate those findings in a human trial of the drug.

"This is an excellent example of translational science," he said. "We took a drug that worked well in mice and we tested it in humans with positive results."

Although the trial was small, the results could have far-reaching implications. Costa said a follow-up study was needed using a larger group of people with Down syndrome. Another important step will be to pursue studies with younger, school-age participants with Down syndrome. They would have more rapidly developing brains and, since they are in school, would be routinely tested so the effects of the drug could be closely monitored. That could take as little as five years.

Researchers also want to know if memantine can ward off the onset of Alzheimer's disease in those with Down syndrome. The two conditions show striking similarities and researchers are actively exploring how they may be linked. Babies born with Down syndrome, for example, often carry the biological markers for Alzheimer's disease.

"Everyone with Down syndrome will develop Alzheimer's disease pathology by their mid-30s," Costa said. "We would like to know if this drug can slow down or even halt the development of that disease in adults with Down syndrome."

Memantine works by normalizing the function of a glutamate receptor in the brain known as the N-methyl-D-aspartate or the NMDA receptor.

"This receptor plays a central role in memory and learning," Costa said.

Given the small size of the study and the need for more research, Costa stressed that people should not start taking memantine for Down syndrome. Although it has proven safe and well-tolerated by the study participants, researchers urge caution, saying more work needs to be done to determine if this is a viable treatment option.

"Our study is a significant and hopeful sign that certain drugs can enhance the intellectual capacity of those with Down syndrome," he said. "For more than 30 years we have been unable to impact cognition in Down syndrome. Now it appears that we may be able to."

Costa has a major stake in improving the lives of those with Down syndrome, the most common cause of intellectual disability. He has a 17-year-old daughter with the condition.

"For me this research is not merely academic," he said. "It's personal."

The CU School of Medicine's work on Down syndrome has resulted in it being chosen as one of nine national testing centers for a new drug manufactured by F. Hoffmann-La Roche LTD aimed at improving memory in adults with Down syndrome. Costa is the principal investigator of the Colorado center.

He will give a lecture about his latest research July 20 in Washington D.C. at the 2012 Annual Meeting & Clinical Symposium of the Down Syndrome Medical Interest Group -- USA. The conference is being held from 1 p.m. to 9 p.m. at the Marriott Wardman Park, 2660 Woodley Rd. NW.

The other researchers in the study included Richard Boada, Ph.D., Christa Hutaff-Lee, Ph.D., David Weitzenkamp, Ph.D., Timothy A. Benke, MD, Ph.D. and Edward J. Goldson, MD.

The trial was funded by Forest Research Institute Investigator Initiated Grant NAM-58. During the course of this study, Costa was also supported in part by grants from the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

"I also am grateful to the Anna and John J. Sie Foundation, the Linda Crnic Institute and the Coleman Institute for Cognitive Disabilities for believing in my research all these years. This work would not have been possible without their support in these harsh economic times," Costa said

Be gentle.