NIH launches tool to advance Down syndrome research

from the NIH:

The National Institutes of Health has launched a subsite of DS-Connect: The Down Syndrome Registry for researchers, clinicians, and other professionals with a scientific interest in Down syndrome to access de-identified data from the registry. This Web portal will help approved professionals to plan clinical studies, recruit participants for clinical trials, and generate new research ideas using information gathered from the registry participants.
“DS-Connect is a centralized, secure website where people in the Down syndrome community can store their health information related to Down syndrome. Participation in the registry is completely voluntary and can be withdrawn at any time,” said Melissa Parisi, M.D., Ph.D., of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, which funded and developed the registry. “It’s also a valuable resource for professionals in health care and science, who can use the de-identified data from the registry to better understand the health characteristics and needs of people with Down syndrome.”

The Noblest Cause Of Our Time: Saving Lives

by Cathy McMorris Rodgers from Forbes:
Seven years ago, just hours after giving birth to our son Cole, I learned how a single diagnosis can change your whole life. How two simple words – Down syndrome – are associated with lifelong complications and heart defects and Leukemia and even early Alzheimer’s. But in that moment, when Cole was taken away for surgery and we reeled from the lifetime of uncertainty that suddenly lay before us, I learned firsthand how scientific advancement saves lives.
While breakthroughs in medicine and technology have given hope to Cole and so many millions like him – whether they have Down syndrome or Autism or cancer – we still have a long way to go to remain the world leader in innovation. In fact, of the 7,000 known diseases, we only have treatments for 500 of them. It is one of the greatest and noblest causes of our time: to commit ourselves, as a country and a Congress, to saving lives.
That is why, as part of the House Energy and Commerce Committee, we have launched the 21st Century Cures initiative, whose mission is to expedite the discovery, development, and delivery of new and innovative treatments to patients everywhere. We need to leverage technological advances to rethink how we conduct research and break down outdated administrative and procedural hurdles. We are committed to reducing the time and complexity of clinical trials so Americans have the best, most effective treatments right here at home.

DSR Episode #25: DS Connect with Lisa Kaeser

The new DS Registry will provide huge opportunities to improve the lives of our children! We had the opportunity to speak with Lisa Kaeser about DS Connect which launched in September.  Just listen to the list of potential benefits that will come out of this important new registry:

• Help connect people with DS to scientists who study DS.
• Speed up research in DS by collecting information that scientists can use.
• Help scientists learn why people with DS have different symptoms.
• Help health care professionals improve how they treat people with DS.
• Advance understanding about how and why certain treatments work and don’t work.
• Help scientists develop and test new treatments for people with DS

Get excited people!  These are serious benefits for our loved ones!  Signing up only takes a few minutes – both Rick and I did it.  Also, you get access to awesome demographic data on children with DS.

Lisa Kaeser is the Director of Legislation and Public Policy for the Eunice Kennedy Shriver National Institute of Child Health and Human Development.  Lisa was a wonderful guest and told us ALL about it.  We went over the history of the effort and the development of the registry as well as the types of data it will contain.  The uses relate directly to the goals listed above.
One really big issue was privacy.  This is important to many folks so we went through this thoroughly.  The contact data is kept completely separate from the actual data.  Researchers can see the registry contents by category, but can never find out information about a specific individual.  Registrants can ‘opt in’ to be contacted under specific circumstances such as a medical discovery or to potentially be part of a research trial.  Rick and I both filled it out and I for one thought it felt really safe.
Go and register – it is quick and easy, we promise:

Oh and while you are in a good mood, go to iTunes and look us up.  Click subscribe and give us a good review.
Thanks,
Mark
Download Down Syndrome Radio, Episode #25.
Better yet…subscribe, rate us and leave a comment on iTunes!

More choline for mom decreases Down syndrome effects

By Brian Friedlander from the Cornell Chronicle:
Fetuses with Down syndrome dramatically benefit when their mothers increase their intake of the nutrient choline during pregnancy and nursing, report Cornell researchers in the journal Neurobiology of Disease. Increased choline by moms bolsters brain functions and plays a profound health role for Down syndrome offspring throughout their lives.
Increased maternal choline intake improves spatial cognition and attention, and delays aging-related memory decline in normal laboratory rats.  The present findings with Down syndrome mice indicate that increased maternal choline consumption may also lessen the impairment of individuals with Down syndrome and reduce the risk of Alzheimer’s disease, which is seen in nearly all Down syndrome individuals.

NIH launches first national Down syndrome registry

from the NIH:
The National Institutes of Health has launched DS-Connect, a Web-based health registry that will serve as a national health resource for people with Down syndrome and their families, researchers, and health care providers.
“The Down syndrome community has voiced a strong need for a centralized, secure database to store and share health information. DS-Connect fills that need, and helps link individuals with Down syndrome to the doctors and scientists working to improve their health and quality of life,” said Yvonne T. Maddox, deputy director of the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which funded and developed the registry.
Participation in the registry is free and voluntary. Individuals with Down syndrome, or family members, on their behalf, may sign up to create personalized profiles with information about their health histories, including symptoms, diagnoses, and medical visits. The website has been designed to ensure that all information remains confidential. The site will separate users’ names from their health information, so that individuals may compare their health information with that of all other participants in an anonymous manner.

Supermodel spotlights Down syndrome

by Patrick Gavin from Politico:
Supermodel Beverly Johnson is in town this week to raise awareness of Down syndrome in her role as an international spokeswoman for the Global Down Syndrome Foundation, and she wants one thing in particular out of Washington: more money.
“It’s one of the least funded disorders,” Johnson told POLITICO. “There’s just a lot of research that needs to be done, and we need dollars to do it.”
Johnson did her part to raise money for the cause at The Ritz-Carlton in Washington on Wednesday, where she appeared at the Global Down Syndrome Foundation Gala & Fashion Show, featuring Sheryl Crow and Quincy Jones. Reps. Cathy McMorris Rodgers and Chris Van Hollen also were honored with the Quincy Jones Exceptional Advocacy Award for their support of individuals with Down syndrome.
In promotional material for the event, the foundation stated “that Down syndrome is the most frequent chromosomal condition affecting an estimated 400,000 Americans, but is the least funded genetic condition by the National Institutes of Health [NIH], securing only 0.0007 percent of NIH’s 2012 $31 billion budget.”
Johnson, however, is optimistic that Washington can take action on improving the situation.
“We just really want to shine that spotlight and get people to write those checks and to also make Congress aware of the funding that we need for this very serious issue,” Johnson said. “I am very optimistic. I believe in people, and I believe in Congress. … I know that this is something that should be very high on the list and it’s just something that we haven’t made the effort and now we’re making the effort.”
Johnson rose to fame in the 1970s when she became the first African-American woman to grace the cover of Vogue. Given her expertise, we had her weigh in on Washington’s reputation as being “Hollywood for ugly people.”
Johnson treated the District kindly.
“I love D.C.,” she said. “You’re gorgeous.”

Molecular Roots of Down Syndrome Unraveled

Neurons from a typical mouse (left) are longer and fuller than neurons from a mouse lacking SNX27 (right). (Credit: Image courtesy of Sanford-Burnham Medical Research Institute)

from Science Daily:
Researchers have discovered that the extra chromosome inherited in Down syndrome impairs learning and memory because it leads to low levels of SNX27 protein in the brain.
What is it about the extra chromosome inherited in Down syndrome -- chromosome 21 -- that alters brain and body development? Researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) have new evidence that points to a protein called sorting nexin 27, or SNX27. SNX27 production is inhibited by a molecule encoded on chromosome 21. The study, published March 24 in Nature Medicine, shows that SNX27 is reduced in human Down syndrome brains. The extra copy of chromosome 21 means a person with Down syndrome produces less SNX27 protein, which in turn disrupts brain function. What's more, the researchers showed that restoring SNX27 in Down syndrome mice improves cognitive function and behavior.
"In the brain, SNX27 keeps certain receptors on the cell surface -- receptors that are necessary for neurons to fire properly," said Huaxi Xu, Ph.D., professor in Sanford-Burnham's Del E. Webb Neuroscience, Aging and Stem Cell Research Center and senior author of the study. "So, in Down syndrome, we believe lack of SNX27 is at least partly to blame for developmental and cognitive defects."

SNX27's role in brain function
Xu and colleagues started out working with mice that lack one copy of the snx27 gene. They noticed that the mice were mostly normal, but showed some significant defects in learning and memory. So the team dug deeper to determine why SNX27 would have that effect. They found that SNX27 helps keep glutamate receptors on the cell surface in neurons. Neurons need glutamate receptors in order to function correctly. With less SNX27, these mice had fewer active glutamate receptors and thus impaired learning and memory.

2013 Buddy Walk on Washington

 

2013 NDSS Buddy Walk® on Washington

The NDSS Buddy Walk® on Washington is an annual two-day advocacy conference that brings the Down syndrome community together to advocate for legislative priorities that impact the lives of people with Down syndrome and their families. Advocates meet with members of Congress and their staff on Capitol Hill to advance education, research and healthcare for people with Down syndrome.
The 2013 Buddy Walk® on Washington will be held on March 13 & 14 in Washington, DC.

Registration

Registration for the 2013 Buddy Walk® on Washington is now open.

Hotel & Location Information

The Buddy Walk® on Washington will be held at the L’Enfant Plaza Hotel (480 L’Enfant Plaza Hotel S.W. Washington, DC 20024). To reserve your room, call 800-635-5065 or reserve online using the group name “NDSS13” to receive the special group rate by Feb. 14, 2013. If you need multiple nights at the hotel, please email NDSS VP of Advocacy & Affiliate Relations Sara Weir at sweir@ndss.org.

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Advocacy Training - March 13, 2013

Our NDSS advocacy training session is an opportunity to learn from NDSS about our key priorities for the 2013 Buddy Walk® on Washington. You will have the opportunity to hear presentations on the key “asks”, participate in role play sessions with your state delegations, and network with affiliates and advocates across the country. We strongly encourage all attendees participate in the advocacy training session from 3:00 -6:00 PM on March 13. 

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Buddy Walk® on Washington schedule

Wednesday, March 13, L’Enfant Plaza Hotel
1:00 PM – 3:00 PM - Registration
2:00 PM - 3:00 PM Self-Advocates Speak Out - an exclusive event for all self-advocates hosted by NDSS Self-Advocate Advisory Board
3:00 PM – 6:00 PM - Buddy Walk® on Washington Advocacy Training

• NDSS Host Welcome Address
• Overview of 2012 Legislative Agenda & Asks
• Advocate Role Playing
• State Practice session
• Q&A session

7:00 PM - 9:00 PM - NDSS Awards Dinner & Celebration (Renoit/Monet Ballrooms)          
Thursday, March 14, Capitol Hill
7:30 AM - 8:00 AM Depart Hotel (via Metro) for Capitol Hill (NDSS will provide metro cards)
8:30 AM - 10:00 AM - NDSS Capitol Members of Congress Breakfast Reception
9:00 AM - 5:00 PM Capitol Hill Visits (Meetings will be scheduled for each advocate)                                           

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Scheduling Your Congressional Visits

This year, we are working with Soapbox Consulting to schedule your Congressional meetings for you. If you have any questions, please contact NDSS VP of Advocacy & Affiliate Relations Sara Weir at sweir@ndss.org.

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Buddy Walk® on Washington & Self-Advocates

Self-advocate participants of the Buddy Walk® on Washington are invited to join the NDSS Self-Advocate Advisory Board for a panel discussion and Q&A at 2:00 pm on March 13 (before our advocacy training). The Board will share their expertise as seasoned self-advocates in this presentation for self-advocates by self-advocates.  Please note, this event is for self-advocates only. For more information, please contact NDSS Manager of Education & Programs Vanessa Quick at vquick@ndss.org.

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Advocacy Training Webinars

NDSS will facilitate two advocacy training webinars to help prepare you for your advocacy experience, what to expect on Capitol Hill, and discuss the 2013 key legislative priorities. Register for each of our webinars by clicking on the links below:

Buddy Walk® on Washington 101 – Everything You Need to Know

February 7 at 3:00 PM ET
https://www2.gotomeeting.com/register/854735786 

Buddy Walk® on Washington 201 – Ins & Outs of the NDSS 2013 Legislative Agenda/Asks

February 26 at 3:00 PM ET
https://www2.gotomeeting.com/register/810315282

Getting Around Washington

• Capitol Hill Map
• Washington DC Map
• Metro Map

For more information, please contact NDSS VP of Advocacy & Affiliate Relations Sara Weir at sweir@ndss.org.

John T Farley to serve as board member for the NDSC

by Kelli Polatty from The Commercial Appeal:
John T. Farley spent a week in Washington at the National Down Syndrome Congress Convention.
As part of the convention, he spent one day meeting with Tennessee Senators and Congressmen to encourage their support of legislature that affects individuals with Down syndrome and other disabilities.
A few of the issues Farley spoke about included:

• The ABLE Act (Achieving a Better Life Experience): would allow individuals with disabilities the right to have savings above $2,000 without affecting other benefits.
• Down Syndrome Research Funding: Requesting more funds be allotted within National Institution of Health to research medical conditions that are prominent with Trisomy 21.
• Keeping all Students Safe Act: Banning the use of restraints and seclusion in public schools.

Five years ago Farley began his run for the board of directors of the National Down Syndrome Congress. Each year the self advocates select one of their peers to represent them on the national board. Only one is voted in annually, and some years as many as 20 individuals run for this position.
Last year they selected Farley as their representative. He will serve a three-year term.
The 2013 NDSC convention will be held in Denver, July 19-22. This is an educational opportunity for young adults with disabilities, their parents, and educators. For more information go to ndsccenter.org.
Kelli Polatty is the communications manager for the Down Syndrome Association of Memphis and the Mid-South, 2893 S. Mendenhall Road Suite 3, Memphis.

Prenatal intervention reduces learning deficit in mice

from Science Codex:
Mice with a condition that serves as a laboratory model for Down syndrome perform better on memory and learning tasks as adults if they were treated before birth with neuroprotective peptides, according to researchers at the National Institutes of Health.
Down syndrome results when an individual receives an extra copy of chromosome 21. According to the Centers for Disease Control and Prevention, Down syndrome occurs in 1 of every 691 births. Features of Down syndrome include delays in mental and physical development and poor muscle tone. These features may vary greatly, ranging from mild to severe.
The researchers studied growth factors that are important at certain key stages of brain development in the womb. Named for the first three amino acids making up their chemical sequence, NAP and SAL, are small peptides (small protein sub units) of two proteins. These two proteins enhance the ability of brain cells to receive and transmit signals, and enable them to survive. (NAP is an abbreviation for NAPVSIPQ and SALfor SALLRSIPA.)
The mice in the study had an extra copy of mouse chromosome 16, which has mouse counterparts to 55 percent of the genes on human chromosome 21.The researchers treated pregnant mice with NAP and SAL for five days, then tested the mouse offspring at 8 to 12 months of age, comparing them to mice treated with a saline solution (placebo). Mice with the extra chromosomal material that were treated with NAP and SAL in the womb learned as well as mice that did not have the extra chromosome, and significantly faster than mice with the extra chromosome that were treated with saline solution.
"Our study has provided important information that may help in the understanding of Down syndrome," said senior author Catherine Y. Spong, M.D., chief of the unit on perinatal and developmental neurobiology at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the NIH institute where the research was conducted.
Dr. Spong collaborated with first author Maddalena Incerti, M.D., Kari Horowitz MD, Robin Roberson, Daniel Abebe, Laura Toso, M.D., and Madeline Caballero, all of the NICHD Unit on Perinatal and Developmental Neurobiology. Dr. Incerti also is affiliated with the University of Milano-Bicocca, Italy, and Dr. Horowitz now is affiliated with the University of Connecticut, Farmington.
Their findings appear online in PLOS ONE.
In an earlier study, Dr. Spong and her colleagues found that, if treated with NAP and SAL in the womb, mice with the extra copy of chromosome 16, achieved developmental milestones earlier than did mice with an extra copy of chromosome 16 that had not been treated. In that study, the researchers examined developmental milestones for sensory, motor skill, and muscle tone development in the first three weeks of life.
"In our earlier work, we showed that treating the mice during pregnancy could prevent developmental delay as assessed with milestones," Dr. Spong said. "In this study, we showed that treatment with NAP and SAL not only puts the animals on a typical developmental trajectory, it also improves their ability to learn.
For the current study, pregnant mice received injections of the two protein fragments starting eight days after conception. This is equivalent to the end of the first trimester in a human pregnancy.
The researchers tested the learning skills of the mice when the animals reached adulthood. The mice were placed in a tank of water on a clear platform. The tank had symbols on each wall that the mice could use to orient themselves. Researchers then placed the mice directly in the water and timed how long it took them to locate the platform. With repeated trials, the mice become more adept at the task and take less time to reach the platform.
Over five days of testing, the researchers found that the time spent searching for the platform decreased substantially for all groups except the mice with the extra copy of chromosome 16 that were not treated with NAP and SAL in the womb.
The research of Dr. Spong's team is part of an NIH-wide focus on Down syndrome outlined in a 2007 Down syndrome research plan. The plan highlights research priorities for the field, including establishing a Down syndrome patient registry, which was announced Oct. 25, 2012.

Source: NIH/National Institute of Child Health and Human Development

NIH establishes patient registry for people with Down syndrome

from E News Park Forest:

A new Down syndrome patient registry will facilitate contacts and information sharing among families, patients, researchers and parent groups. The National Institutes of Health has awarded a contract to PatientCrossroads to operate the registry. The company has created patient-centric registries for muscular dystrophy and many rare disorders.People with Down syndrome or their family members will be able to enter contact information and health history in an online, secure, confidential database. Registry participants will be able to customize their profile, update it online, and choose which information they would like to display, including reminders about their own medical care and general information about Down syndrome. They also will be able to compare their own medical information to that of other registrants in a confidential and anonymous manner.

If a participant gives permission to be contacted, clinicians and researchers who are authorized to access the database will be able to contact these individuals to see if they are interested in participating in a research study.

Ultimately, the registry will be able to link to biorepositories of tissue samples and other resources, with the goal of making it easier for patients to take part in clinical studies for new medications and other treatments for Down syndrome.

The contract, which will support the creation of the registry through September 2013, received $300,000 in funding for its first year.

"The new registry provides an important resource to individuals with Down syndrome and their families," said Yvonne T. Maddox, deputy director of the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which is funding the registry. "The registry links those seeking volunteers for their research studies with those who most stand to benefit from the research."

Down syndrome most frequently results from an extra copy of chromosome 21 in the body’s cells. Infants with Down syndrome are likely to have certain physical characteristics, such as short stature and distinctive facial features, as well as health conditions like hearing loss, heart malformations, digestive problems, and vision disorders. Although Down syndrome most commonly results in mild to moderate intellectual disability, the condition occasionally involves severe intellectual disability. In addition, some individuals with Down syndrome age prematurely and may experience dementia, memory loss, or impaired judgment similar to that experienced by individuals with Alzheimer disease.

"Down syndrome is complex," Dr. Maddox said. "A wide array of scientific expertise is required to address all its aspects in a comprehensive manner."

Development of a patient registry was a leading recommendation in the 2007 NIH Down Syndrome Research Plan, which sets goals and objectives for the Down syndrome research field. Together with the Global Down Syndrome Foundation, the NICHD sponsored the Down syndrome National Conference on Patient Registries, Research Databases, and Biobanks to solicit the advice of a number of experts from the advocacy community, federal agencies, industry, and the clinical and research communities on how best to establish a Down syndrome registry.

The plan for the registry was supported by the public-private Down Syndrome Consortium, which was established by the NIH in 2011 to foster the exchange of information on Down syndrome research, and to implement and update the Research Plan. Membership on the Consortium includes individuals with Down syndrome and family members, representatives from prominent Down syndrome and pediatric organizations, and members of the NIH Down Syndrome Working group, an internal NIH group that coordinates NIH-supported Down syndrome research.

"We're grateful to those who provided us with the advice that allowed us to establish a national registry," Dr. Maddox said. "We are happy that this important step in furthering research on Down syndrome has been accomplished and hope that many families will take advantage of the opportunity to sign up as soon as the registry goes online."

My Special Child: Man Proves Life with Down Syndrome Can be Fulfilling

by Abby Eden from Fox4KC:
In America, the abortion rate for a prenatal diagnosis of Down Syndrome has dropped to 67 percent, according to a study released earlier this year by the National Institute of Health. Yet many people argue that 67 percent is still too high.
In honor of Down Syndrome month, this “My Special Child” report, reminds us that many people with Down Syndrome can complete high school, attend college and be gainfully employed.
Though Lee Jones has Down Syndrome he’s been making great accomplishments since he was just a little boy. It’s a message he wants these medical students to hear.
“Everyone, whether they have a disability or not have the right to have their own dreams, just because a person has a disability doesn’t lessen the importance of their dreams,” said Jones.
Lee learned to read at the age of three, was developing athletically by kindergarten, he graduated from high school, then from college with a bachelors degree. Today Lee lives on his own and works two jobs, including one at the Kauffman Foundation.
“I pass out mail, I know people really well so, I interact with them when I do that, then I do photocopying, mailing, scanning,” Jones explained.
Lee attributes his accomplishments to his personal determination and realistic goal setting. He also attributes his parents’ relentless commitment to his learning which was done with many small steps.
“I did my own laundry when I was in middle school at home,” he said.
Many times it was Lee who was setting the goals, like learning to drive and learning to scuba dive, and yes, it was much harder for Lee.
“We were studying for an algebra test in high school and Lee and I were both to about the breaking point, and he said ‘Mom don’t you realize this is hard for me?’ And I said sure,” Carolyn Jones, Lee’s mother, said.
It may have taken Lee longer to learn, but today, he’s far from being a burden on society.  He works, he volunteers, and he is teaching the rest of us what people with down syndrome CAN accomplish.
October is Down syndrome month. For more information, resources and success stories visit the National Down Syndrome Society’s website at www.ndss.org
Find me on Facebook:  Abby Eden Fox 4
Follow me on Twitter:  @AbbyEden
Email me:  abby.eden@wdaftv4.com

The Three Types of Down Syndrome

from Home Remedies for you .com:
Human chromosomes have a unique genetic code, which instruct and control the division, function as well as the growth of cells. Under normal circumstances, your cells contain 23 pairs of chromosomes, where one chromosome comes from your dad and the other from your mom. However, at times the cells could have three copies of a particular chromosome, instead of two. People who have three copies of the Chromosome 21 are born with Down syndrome. Other genetic problems occur when the duplicated chromosomes are other than Chromosome 21. Therefore Down syndrome is also commonly known as Trisomy 21.
Not a lot of people are aware of the fact that Down syndrome can be classified into three different kinds. Given below are facts about the three types of Down syndrome –

Standard Trisomy 21 or Nondisjunction Down syndrome
Around 90% to 95% of all the people who have Down syndrome are suffering from Standard Trisomy 21. Individuals who have 3 copies of Chromosome 21 in all the cells are born with this form of Down syndrome. Trisomy 21 occurs when there is an abnormal division of cells during the development of the egg cell or even the sperm cell. Around 88% of all Down syndrome instances come from the nondisjunction in the maternal gamete; while the paternal side constitutes of 8% of the total cases.

Mosaicism
Standard Trisomy 21 occurs when there is a nondisjunction in the gametes before conception, which affects all the cells present in the child’s body. However, at times only certain cells are affected by the abnormal division, while others are just fine. This is known as Mosaic Down syndrome, or Mosaicism. There are two ways in which this form of Down syndrome can occur. The first is a nondisjunction process that occurs during the earlier stages when the cell divides in the embryo that is normal, which results in few of cells being affected by Trisomy 21. The other way occurs when an embryo with Down syndrome goes through nondisjunction, but certain cells within the embryo return to the standard chromosome arrangement. This form of the disorder is quite rare and constitutes for about 1% or 2% of observed Down syndrome instances.

Translocation
Sometimes, Down syndrome is caused when part of Chromosome 21 becomes attached or trans-located to a different chromosome, before or during conception. People who have Translocation Down syndrome have the normal two copies of chromosome 21. However, they also have extra material from chromosome 21 attached onto the trans-located chromosome. Translocation Down syndrome is the only type that can be passed on from a parent to the child. This form of the disorder is also quite uncommon and constitutes for about 2% or 3% of observed Down syndrome instances.

References

• http://www.mayoclinic.com/health/down-syndrome/DS00182/DSECTION=causes
• Facts about Down syndrome. National Institute of Child Health and Human Development. http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm. Accessed Feb. 14, 2011
• Genetic conditions: Down syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=downsyndrome. Accessed Feb. 14, 2011
• Birth defects: Down syndrome. Centers for Disease Control and Prevention. http://www.cdc.gov/ncbddd/birthdefects/DownSyndrome.htm. Accessed Feb. 15, 2011

National Institute of Health looking for Participants

from babycenter.com:

 

Children with Down syndrome have a Story to Tell!

 

Researchers at the NIH are conducting a research study on brain development and learning in children and young adults with Down syndrome.  All procedures (including brain imaging, learning and memory testing) take about 8-10 hours, spread out over 3-4 visits, to complete on an outpatient basis at the NIH Clinical Center in Bethesda, Maryland.

Children and young adults may be eligible to participate if they are between 3 and 30 years old and have a confirmed chromosomal diagnosis of Down syndrome.  Volunteers will be compensated for their participation. Parent or legal guardian, child, and young adult must agree to participation. All clinical evaluations and research procedures are free of cost.

 

For more information, contact:

Nancy Raitano Lee, Ph.D. at 301-435-4520

TTY: 1-866-411-1010 

email: lnancy@mail.nih.gov 

http://patientinfo.nimh.nih.gov

http://patientinfo.nimh.nih.gov/DownSyndrome.aspx

 

National Institute of Mental Health, 

National Institutes of Health, 

Department of Health & Human Services 

Protocol No. 89-M-0006

2012 Buddy Walk on Washington update

The Buddy Walk on Washington begins tomorrow with planning sessions and continues into Thursday with Congressional visits.

Key initiatives being discussed with members of Congress and their staff are:

1. Sponsorship of the Achieving a Better Life Experience Act (ABLE)
2. Increasing Down Sydrome NIH Research Funding & Down Syndrome Research Infrastructure
3. Joining the Congressional Down Syndrome Caucus

from the D.A.D.S. National Update:

What’s new in the 2011-2012 ABLE Act?

• This is the third Congress that the ABLE Act has been introduced and there have been some specific changes that were made to the bill for this Congress. Some of the changes would result in providing more flexibility in the account along with a clear path to bring the accounts to the marketplace. Others have been added to help bring down the costs to the federal budget. Most importantly, all of the changes give the bill a much better chance to passing into law.
• The resulting "ABLE" account would now fall under the 529 program. That means that the tax free, fraud protection, account limits, reporting provisions and rollover provisions that apply to 529’s would now apply to the ABLE account.
• A provision was added that suspends the beneficiary’s SSI check during any period of time the account has assets over $100,000. It is important to note that although the payment is suspended the individual does not lose their eligibility
to receive the payment, so that when the assets are spent down it can be reinstated.

NDSC, NDSS and GDSF Respond to Decrease in NIH Funding

2011 National Institutes of Health Report Shows Down Syndrome Remains the Least Funded Genetic Condition

On Monday, February 13, 2012 the National Institutes of Health (NIH) published the fiscal year 2011 research funding for Down syndrome. The funding numbers decreased from $22 million in 2010 to $20 million in 2011 out of a total $31 billion budget. The 2010 funding levels already equated to Down syndrome being the least funded genetic condition by the NIH, something many Down syndrome organizations have been trying to reverse.

In a joint statement by the National Down Syndrome Congress, National Down Syndrome Society and Global Down Syndrome Foundation, the Down syndrome community expressed its disappointment in the decrease.  

We are very disappointed the funding levels for research from the NIH have not increased, but in fact decreased. Prominent scientists believe the research for improving health and cognition is extremely promising.

The Down syndrome community feels strongly about better medical care and outcomes for people with Down syndrome. Mainstream Americans overwhelmingly support federal funding for Down syndrome, as evidenced by a 2011 poll.

While funding for other conditions such as Fragile X and Cystic Fibrosis increased, funding for Down syndrome at the National Institutes of Health is significantly less and has plummeted since 2000, as evidenced by numbers published by the NIH.

People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, childhood leukemia, thyroid conditions, and Alzheimer's disease. Researchers are studying proteins related to human chromosome 21 and Alzheimer's disease that would reduce the level of the protein and lead to improvements in cognition for individuals with Down syndrome. While these groundbreaking developments, supported primarily by private funding, are positive achievements, both government funding and clinical research infrastructure support are vital to our efforts to translate research achievements into real treatments and therapies.

  

We hope given these realities that research funding benefiting the lives of people with Down syndrome will increase at the NIH. We are grateful for the funding that has been provided so far and will continue to collaborate with the NIH in meeting our collective goals for increased funding.

Down syndrome consortium formed with NIH

from NIH News:

National Institutes of Health has joined with organizations interested in Down syndrome to form a consortium that will foster the exchange of information on biomedical and biobehavioral research on the chromosomal condition.

"The idea is to have an open channel of communication between the NIH and those organizations intimately involved with Down syndrome," said Yvonne T. Maddox, deputy director of the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the agency that will chair the new consortium. "The consortium will allow NIH to inform the Down syndrome community of advances in the field, ongoing studies, and potential avenues for future research. In turn, those who work in Down syndrome research and patient care can share their experiences and ideas for potential research opportunities with NIH."

Down syndrome most frequently results from an extra copy of chromosome 21 in the body's cells. The chance of giving birth to a baby with Down syndrome increases as women age.

Infants with Down syndrome have certain characteristic physical features, such as short stature and distinctive facial features. They are also more likely to have health conditions like hearing loss, heart malformations, digestive problems, and vision disorders. Although Down syndrome is the most common cause of mild to moderate intellectual disability, the condition occasionally involves severe intellectual disability. In addition, individuals with Down syndrome age prematurely and may experience dementia, memory loss, or impaired judgment similar to that experienced by individuals with Alzheimer disease. Because of its far reaching effects on an individual’s health, Dr. Maddox explained, Down syndrome warrants a comprehensive research effort by a wide array of scientific disciplines.

"A single, comprehensive forum will make the research effort to address Down syndrome more effective, minimizing duplication of effort and capitalizing on the knowledge of those with the greatest experience in the field," Dr. Maddox said.

A focus of the consortium will be the implementation of the NIH Down syndrome research plan, which set research goals for Down syndrome, based on previous research accomplishments and the need for research in areas in which evidence is lacking. The consortium will meet two to three times a year.

Individuals with Down syndrome and family members will be represented on the consortium, which will also include the NIH Down Syndrome Working group, an internal NIH group that coordinates NIH-supported Down syndrome research, and representatives from prominent Down syndrome and pediatric organizations.

About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation. For more information, visit the Institute’s Web site at http://www.nichd.nih.gov/.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

Urge your Representative to attend an important briefing on Down syndrome

Email your Representative from the following states now! Urge him/her to attend an important briefing on Down syndrome research.	Take Action!
Email your Representative below and urge him/her to attend a briefing of the US Congressional Down Syndrome Caucus on Down Syndrome research which is being held on Tuesday, October 25th at 4:30 pm in room 121 of the US House of Representatives Cannon Office Building. This briefing is being organized by Congresswoman Cathy McMorris Rodgers (R-WA) who is a co-chair of the Down Syndrome Caucus and herself a parent of a child with Down syndrome. The briefing will assist the Congressional Down Syndrome Caucus in developing policy priorities by providing a comprehensive overview of the state of research in Down syndrome and other rare disorders by demonstrating how the study of rare disorders will inform more common disorders.   Presenters will discuss the unique biology of Down syndrome, current research efforts in Down syndrome, including NIH and privately funded efforts, and barriers to Down syndrome research.  By improving awareness of Down syndrome research, presenters will be able to show that an improved research infrastructure will provide opportunity for translational and collaborative research that will not only benefit the lives of people with Down syndrome, but the general public as well. Congressional Targets: Anders Crenshaw – (R- FL); Vern Buchanon – FL; Nita  Lowey – (D- NY) Carolyn McCarthy – (D-NY) Lois Capps –(D- CA) Susan Davis –(D- CA) Dian DeGette –(D- CO) Michael Rogers –(R- MI) Michael Burgess – (R-TX) Ruben Hinojosa – (D-TX) from the NDSS and NDSC

Lawmakers Call For Increased Down Syndrome Research

from disability scoop:

A set of new bills introduced in Congress would establish first-ever centers for studying Down syndrome and boost research of the chromosomal disorder, a move supporters say will correct a funding inequity.

Since 2000, the Children’s Health Act has specifically authorized research for several conditions including autism, epilepsy, asthma and fragile X syndrome, but not Down syndrome.

Now, two bills introduced late last week by U.S. Rep. Cathy McMorris Rodgers, R-Wash., could change that.

The legislation would allocate $6 million annually for the National Institutes of Health to establish six centers of excellence for Down syndrome research.

Moreover, the federal agency would be required to create and update a Down syndrome research plan every five years and the bills call for the establishment of three research databases.

The move is an effort to help level the playing field when it comes to the allocation of research dollars. Historically, advocates say that funding for Down syndrome has lagged behind that of other conditions.

Last year, the National Institutes of Health tagged $28 million to study Down syndrome, $6 million of which came from economic stimulus efforts.

At the same time, more than three times as much money went toward cystic fibrosis research, even though that condition affects just 30,000 Americans compared to some 400,000 with Down syndrome.

For McMorris Rodgers, increasing the federal focus on Down syndrome has special meaning, as her son Cole, 4, has the developmental disorder.

“I’m quite concerned that so many of the researchers in the Down syndrome field have difficulty getting funded,” McMorris Rodgers told The New York Times in an article published just last week. “My fear is that for some, they believe that it’s been taken care of through prenatal diagnosis.”

It’s unclear when the legislation may be considered in Congress. But the bills do have bipartisan support — a key to getting legislation passed in recent times — with co-sponsors Rep. Chris Van Hollen, D-Md., and Rep. Pete Sessions, R-Texas, on board.

Those backing the measures say some senators have expressed interest in presenting similar legislation before that body, though nothing has been introduced yet.

Prenatal diagnosis booklets distributed to 10,000 professionals

From pr.com:

Lettercase (www.lettercase.org) is pleased to announce that its booklets, "Understanding a Down Syndrome Diagnosis," have been distributed to medical providers nationwide in the largest ever Down syndrome prenatal outreach effort. However, this accomplishment is just the beginning. Additional funding is critical to make booklets available to the more than 60,000 professionals who could be sharing the unexpected and often overwhelming news with expectant parents.

The National Down Syndrome Society (NDSS) and the Kennedy Foundation generously funded the 10,000 booklet distribution for a prenatal outreach effort that Lettercase arranged with the National Society of Genetic Counselors (NSGC), the American College of Medical Genetics (ACMG), graduate programs, and the American College of Obstetricians and Gynecologists (ACOG), but there remain tens of thousands more medical professionals who could benefit from this important resource.

Last week, Gene Security Network announced a 2 million dollar grant from the National Institutes of Health (NIH) to conduct a clinical trial for non-invasive prenatal diagnosis (NIPD); however, the Prenatally and Postnatally Diagnosed Awareness Act that passed unanimously in 2008 to provide information about conditions, like Down syndrome, has gone unfunded for the past three years. One testing company has already announced more advanced prenatal blood tests for Down syndrome to be released this fall, meaning more accurate testing will be available without the accompanying information needed to support the patients.

Lettercase CEO, Stephanie Meredith, says, "Our booklets give patients the full scope of Down syndrome with information that has been vetted by both medical and disability experts. It is essential for both the federal government and testing companies who are putting funds toward testing to also invest in credible patient education. It is essential that we establish a model, not only in theory but in practice, for responsible testing as this technology continues to evolve for more and more genetic conditions."

According to Madeleine Will, Director of the NDSS Policy Center in Washington D.C., "current prenatal testing was developed with a 13 million dollar NIH grant in the 1990's; now NIH has granted 2 more million dollars for the next wave of prenatal testing. Yet there has been no matching funding to provide the accurate, up-to date, detailed information about life with Down syndrome that professional recommendations require when delivering a diagnosis. The Lettercase booklets provide that required information about Down syndrome. It is incumbent upon those who fund prenatal testing to also provide funding for this vitally essential educational information; otherwise, prenatal testing does not result in informed decisions but can, and often does, result in discrimination against those with the tested-for condition."

About Lettercase
Lettercase is a Georgia non-profit corporation that provides reliable and up-to-date resources and information about genetic conditions, as well as professional and academic training about disabilities. Lettercase can make experts available for interview.