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."

Exercise and cognition in people with Downs Syndrome? Is there a link?

Interesting article.

Can Exercise Improve IQ In People With Down Syndrome?

By SHAUN HEASLEY

March 7, 2013

The key to improving cognition in those with Down syndrome could be as simple as stepping onto a bike, researchers say.

Using a method called “assisted cycle therapy,” researchers at Arizona State University say they’re seeing improvement in those with Down syndrome. The approach involves rigorous exercise sessions on a specialized stationary bicycle, with a coach encouraging and monitoring the individual with Down syndrome throughout.

A small, pilot study two years ago found that adolescents with the chromosomal disorder were able to process information more quickly and had better manual dexterity even after just one therapy session. In contrast, voluntary exercise did not produce similar results, said Shannon Ringenbach, an associate professor of kinesiology at Arizona State who’s leading the research effort.

Now Ringenbach has a $150,000 federal grant to study the impact of assisted cycle therapy on people with Down syndrome more in-depth.

In an ongoing study, participants attend 30-minute workout sessions three times each week. Families members have indicated that they’ve noticed an increase in talking, interaction and improved mood among those currently participating in the research effort.

“It’s really remarkable that by doing this kind of exercise, they begin to think faster,” Ringenbach said of the study participants who she believes are developing new brain cells. “It has the potential to dramatically change the quality of their lives. With early intervention in children with Down syndrome, it’s possible it could improve their IQ.”

Be gentle.

New program in Connecticut for children with Down Syndrom

A new program has been opened at Connecticut Children's Medical Center for families of children with Down Syndrome.  I love to see these resources available to families.

New comprehensive Down Syndrome program

Updated: Friday, 11 Jan 2013, 6:46 PM EST
Published : Friday, 11 Jan 2013, 6:46 PM EST

• Jocelyn Maminta

HARTFORD, Conn. (WTNH) -- It is a one of a kind program and Connecticut Children's Medical Center came up with it. It's a comprehensive outreach for families with children with Down Syndrome.

Louisa Knapp is among the hundreds in Connecticut born with down syndrome, a genetic disorder that affects a child's development.           

Louisa's family is among a growing number discovering the newly launched Comprehensive Down Syndrome Program at Connecticut Children's Medical Center.

"How's your hearing," asked Dr. Greenstein.

Dr. Robert Greenstein heads up this first of it's kind program in the state.

"This would make available in a timely manner the kind of services that are necessary to improve the health of the child and therefore reduce the anxiety among the family," said Dr. Greenstein.

A huge void until now, with services specifically tailored to address the special needs of a down syndrome patient which can be misdiagnosed, delaying treatment.

"Can I see your teeth please," asked Dr. Greenstein.

For Louisa, a stuffy nose led to surgery after Dr. Greenstein recommended a specialist.

"He managed for her to be seen by someone who is now with this program who is very comfortable with kids with down syndrome and understood the unique needs and she had her tonsils and adenoids removed and it was life changing for her," said Sheryl Knapp, Louisa's mother. 
     
At this visit, the concern is Louisa's hearing, a common problem among down syndrome patients.

"She often says I can't hear you or say that again. I don't know if she really can't hear or if she's just saying it," said Knapp.

Getting her hearing tested with an audiologist is now on Louisa's schedule.

"There's an expectation that you have to find out how much you can but it also comes with an emotional upheaval as well for families," said Dr. Greenstein. 
      
What's offered here is a big relief for families like Louisa's, looking for a central resource to meet all the needs for children with down syndrome.

Be gentle.

Teen actor inspiring other while rocking his extra chromosome

Another teen inspiring others.

Actor with Down syndrome encourages teens to reach for their dreams

By Linda Girardi For The Beacon-News November 19, 2012 1:40PM

AURORA — Although Peter ten Brink is a successful actor, starring in several favorite roles, it is his inspirational life’s story that wins over his audiences.

“It would be great if everyone could reach for their goals, use their imagination and love themselves for who they are,” the actor said.

The 20-year-old ten Brink has Down syndrome. And when he isn’t working in theater productions or memorizing his lines for the big screen, he is an advocate for those with special needs.

On Sunday, he met with a group of teenagers from GiGi’s Playhouse Fox Valley, a Down syndrome awareness and educational center that provides specialized teaching and support for individuals and their families. Sunday’s program was at the Comedy Shrine at Westfield Fox Valley mall in Aurora, a couple doors down from GiGi’s Playhouse Fox Valley.

People with special disabilities “can get ahead just like any other person,” ten Brink told his audience, and he graciously shared credit for his success — with his parents, Frank ten Brink and Jeannine Cleary of Glencoe, who accompany him on the sets, and with his acting coach, Sarah Rose Graber.

“I sincerely love my family – they are the best,” he said.

He said his mother often reminds him to eat healthy. “Naturally I don’t – I love french fries,” he said, drawing laughter.

When a teen asked how old he was and said he was “cute,” ten Brink replied to his fan by saying, “Ditto.”

“When Peter was born schools were just starting to include students with special needs in the regular classroom,” Jeanine Cleary said. “This new generation coming up is completely comfortable and accepting of people with disabilities.”

His parents acknowledged the days on movie sets are long, but their son is passionate about acting and he has remarkable ability for memorizing his lines.

He began acting with the Special Gifts Theatre in Northbrook and performed in productions for his school, New Trier High School. He realized his goal last year after he successfully auditioned for the leading role in the Hallmark movie “A Smile as Big as the Moon,” which is based on a true story about a group of students with special needs who overcome obstacles to attend Space Camp in Huntsville, Ala.

On the big screen, ten Brink played a high school student with Down syndrome. His teacher was played by John Corbett of “Sex and the City” and “My Big Fat Greek Wedding.” The movie aired earlier this year on ABC-TV.

On the improv stage of the Comedy Shrine, ten Brink sat beside his acting coach Graber, who directs a theater program for adults with special needs.

Graber said she was impressed with ten Brink’s willingness to work hard, be imaginative and creative.

“It wasn’t just about learning to play this game, but it was how to play this right and get better at it. Peter definitely is very passionate about learning,” the acting coach said.

After meeting with the actor, the GiGi’s Playhouse teens watched a video of the movie with their parents and siblings, as well as about a dozen teen volunteers from GiGi’s Playhouse.

“We wanted to give the kids some inspiration,” said program leader Marissa Quiles Yelenosky.

“The movie gives me hope for my 5-year old daughter, Samantha. Whatever their dreams, there is something out there for all of our children,” Yelenosky said

Be gentle.

Who;s doing research on Down Syndrome?

I always want to know who is doing research on Down Syndrome.  I came across the new grants given by the Down Syndrome Research and Treatment Foundation for 2012-2013.  Very cool to see the projects and research being conducted to improve the lives of our kids.

The Down Syndrome Research and Treatment Foundation Announces New Grant Awards to Advance Cognition Research and Potential New Therapies in Down Syndrome

DSRTF announces the award of its 2012-2013 Research Grants funding leading researchers to help accelerate the delivery of treatments to improve learning, memory and speech for people with Down syndrome.

• 

Improving learning, memory, and speech for people with Down syndrome

These grants will significantly further progress in research for new therapies to improve cognition for children and adults with Down syndrome.

Palo Alto, CA (PRWEB) October 07, 2012

The Down Syndrome Research and Treatment Foundation (DSRTF) announces the award of new 2012-2013 Research Grants to fund leading researchers from major research centers around the country to help accelerate the delivery of treatments to improve cognition, including learning, memory and speech, for individuals with Down syndrome. Recipients of these new awards include researchers at the University of California, San Diego School of Medicine; the University of Arizona; Stanford University; the VA Palo Alto Health Care System; the University of Texas, Austin; and Johns Hopkins University School of Medicine for their work with a network of institutions participating in the Down Syndrome Cognition Project.

With the funding of its 2012-2013 DSRTF Research Grants, DSRTF has now provided over $9 million to advance Down syndrome cognition research.

"The new grants supporting these exceptional investigators and their research will significantly further progress in discovery, translational, and clinical research for new therapies to improve cognition for children and adults with Down syndrome,” says Dr. Michael Harpold, DSRTF's Chief Scientific Officer and Chair, Scientific Advisory Board. “DSRTF’s Research Program and Grants have been critical in addressing key strategic priorities and accelerating the unprecedented advances leading to the initiation of landmark new clinical trials.

“It is also important to note that the results made possible by DSRTF Research Grants have provided leverage for supported researchers to gain more than $6 million in additional research funding to date through the NIH and other sources,” Dr. Harpold adds. “DSRTF recognizes that without the generous financial support of the Foundation’s donors, these new advances, grants, and initiatives would not be possible, and we are grateful to all for their support.”

In the past year, the pharmaceutical company Roche initiated early-stage clinical trials to test the tolerability and safety of a new drug molecule to improve cognition in individuals with Down syndrome involving nine trial sites around the country and an additional site in the UK. Roche has now initiated two additional supporting clinical studies focused on cognition in individuals with Down syndrome.

DSRTF, a national nonprofit organization founded in 2004, focuses exclusively on identifying and funding critical biomedical cognition research for children and adults with Down syndrome. The Foundation’s mission is to accelerate the development of treatments that will allow people with Down syndrome to: 

•     participate more successfully in school and work;
•     lead more active and independent lives; and
•     prevent additional earlier cognitive decline associated with Alzheimer's disease.

These new 2012-2013 Research Grants build significantly upon the DSRTF-supported research that has led to dramatic breakthroughs in defining specific mechanisms responsible for cognitive impairment in Down syndrome, as well as identifying new drug targets and developing safe and effective new drugs for improving cognitive function.

The new 2012-2013 DSRTF Research Grants include:

JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE
DSRTF Research Center Grant: “A Down Syndrome Virtual Center for Basic and Translational Studies-Cognition and Therapy in Down Syndrome”

UNIVERSITY OF CALIFORNIA, SAN DIEGO SCHOOL OF MEDICINE
DSRTF Research Center Grant: “Defining the Genes and Mechanisms Causing Neurodegeneration in Down Syndrome (DS) and Discovering Effective Treatments”

UNIVERSITY OF ARIZONA
DSRTF Innovation Research Grant: “The Neuropsychology of Down Syndrome”

STANFORD UNIVERSITY
DSRTF Innovation Research Grant: “Mechanisms Underlying the Roles of Sleep and Circadian Rhythms in the Learning Disability of Down Syndrome”

VA PALO ALTO HEALTH CARE SYSTEM
DSRTF Innovation Research Pilot Grant: “Improving Adrenergic Signaling for the Treatment of Cognitive Dysfunction in Down Syndrome”

UNIVERSITY OF TEXAS, AUSTIN
DSRTF Innovation Research Pilot Grant: “Molecular Analysis of Proneurogenic, Neuroprotective Drugs on Prevention of APP-induced Neurodegeneration in a Model of Down Syndrome”

For individual 2012-2013 Research Grant Project Summaries with more detailed information, please visit our web site at http://www.dsrtf.org.

About the Down Syndrome Research and Treatment Foundation:

The Down Syndrome Research and Treatment Foundation (DSRTF) is a national non-profit organization headquartered in Palo Alto, California, aimed at accelerating the development of treatments to significantly improve cognition, including memory, learning and speech, for individuals with Down syndrome. DSRTF funds research at major research centers, including Johns Hopkins Medical Center, Stanford University, University of California, San Diego, and University of Arizona. Since its founding in 2004, DSRTF has committed more than $9 million to fund results-driven research programs that will benefit children and adults with Down syndrome.

Be gentle.

Race for the Extraordinary

Fundraising for research on Down Syndrome.  Great news.

CHICAGO, Jan. 27, 2012 -- /PRNewswire-USNewswire/ -- Research Down Syndrome (RDS), a nonprofit foundation that is among the leading sources for funding of Down syndrome related cognitive research, is entering the second year of its national running program, Race for the Extraordinary, to help increase public awareness and funding for Down syndrome research.  The mission of RDS is the development of safe and effective therapies to address the intellectual difficulties associated with Down syndrome. 

Building on successful marathon and other race events during 2011 in major cities, including New York City, Chicago and San Diego, RDS is expanding its running program to greatly increase itsresearch funding, and has been accepted as a charity partner in multiple marathons across the country. Shorter fun races are being organized as well.  "We are grateful for the enthusiastic support we received in events during 2011," states Dr. Robert Schoen, RDS President, "Our goal is to support persons with Down syndrome by significantly increasing our fundraising in 2012." 

Advances in Down syndrome research have led to such progress as the recent initiation by Roche Pharmaceuticals of a Phase 1 clinical trial to investigate the safety and tolerability of a molecule designed to address the cognitive and behavioral deficits associated with Down syndrome. The RDSRace for the Extraordinary initiative will add increased support for such research.

In recent decades, improved health care, expanded education and community opportunities, and the support of families and advocacy groups has improved the quality of life for individuals withDown syndrome.  As a result, Dr. Schoen notes, "Over the past 30 years, the life expectancy of those with Down syndrome has more than doubled -- underscoring the importance of development of treatments that will assist this population to achieve and maintain independent living."  

Down syndrome is the result of an extra copy of the genetic material present on chromosome 21. It is the most frequently occurring chromosomal abnormality, with an incidence of approximately 1 of every 700 live births. Currently there are an estimated three million persons with Down syndrome worldwide, including approximately 400,000 in the United States. The extra chromosomal material impacts the body's and brain's normal development and manifests differently in each individual, including physical traits such as short stature and low muscle tone,and health conditions such as congenital heart defects and hearing deficits.

Further details, including how to register for races in which RDS Runners are participating, are available at RDS' website www.researchds.org.

About Research Down Syndrome

Research Down Syndrome (RDS) is among the leading sources of private funding for Down syndrome related cognitive research.  RDS supports and funds Down syndrome cognitive research conducted at leading research institutions that are studying the basis of the intellectual impairments associated with Down syndrome - including Johns Hopkins University; Stanford University; University of Arizona; University of California, San Diego; University of Texas, Austin;and VA Palo Alto Health Care System.  Research Down Syndrome is a legal corporate entity, and is a 501(c) (3) nonprofit organization designated by the Internal Revenue Code.  For more information, go to www.researchds.org, or contact RDS:  info@researchds.org or 877.863.2121.

Read more here: http://www.sacbee.com/2012/01/27/4220239/national-running-program-launched.html#storylink=cpy

Be gentle.