Archive for the ‘Blog’ Category

We are continually impressed and humbled by the generosity, ingenuity and compassion of our donors. One recent example shines a light on how a high school student can make an adult-size impact.

Katie Shore (left, in picture above) of McConnellsburg High School in Pennsylvania raised more than $2,300 in five days for her senior project and donated the entire amount to the Global Down Syndrome Foundation!

It all started when Katie and her classmates were tasked to complete projects for their senior year. “Senior projects can be anything you want,” Katie said. “You can raise money or paint a room just as long as you get it approved by the principal, Todd Beatty.”

Inspired by her niece who has Down syndrome, Katie decided to raise money for the Global Down Syndrome Foundation and created a game that pitted each classroom in her school against the other. In the game, each classroom was assigned a bin to hold coins – pennies were counted as one point, and all silver coins were assigned a negative point value. The idea was for students to sabotage other classrooms by adding silver coins to their bins, which forces that class to add more pennies in order to boost their score.

At the end of the week, the classroom with the most points won a pizza party, and all the funds that were raised were donated to Global.

“My niece has Down syndrome, and people treat her different because of it,” Katie said. “She is a beautiful little girl, and I love her to death, and I want nothing more than for her to be happy. Kids make fun of her at school, and I see that she’s hurt. I just want to let her and all kids with Down syndrome know that people do care for them.”

The Global Down Syndrome Foundation would like to thank Katie Shore, her classmates and her school for this generous and thoughtful gift. The staff at Global will work hard to make sure this generous donation is used wisely and makes a difference. Global uses such funds to help fund life-changing medical care, research, events and programs like the I Love You Dance Parties, Dare to Play Football, Dare to Cheer and Advocacy promoting the civil and human rights of the differently-abled.

If you would like to support the Global Down Syndrome Foundation, donate now, or contact us for other ways to help.

THANKS AGAIN, KATIE. YOU ARE AMAZING!

Pictured with Katie above are Alexandria Rexroth (center) and Reva Sounders (right)

Dr. Francis Hickey

In recognition of Febuary as American Heart Month, the Global Down Syndrome Foundation held a Q&A with Francis Hickey, the Medical Director at the Anna and John J. Sie Center for Down Syndrome at Children’s Hospital Colorado and Linda Crnic Institute for Down Syndrome. Dr. Hickey has received one of the inaugural Crnic Institute Grand Challenge Grants, to study the pharmacokinetics of morphine in post-operative cardiac patients with Down syndrome.

1. Why do so many children with Down syndrome need to have heart surgery?

This is due to an increased percentage of heart defects in children with Down syndrome. Among the different patient populations with cardiac disease, the population with Down syndrome is unique. Approximately 40% of this patient group is born with congenital heart disease, often requiring repair within the first several years of life.

2. Please describe the nature of your research, in simple terms.

The primary goal is to improve the morphine management in patients with Down syndrome compared to those without Down syndrome before and after cardiac surgery. Measurement of morphine levels will be correlated with clinical findings in the post-operative time period to help understand pain medication needs.

3. How could your research end up benefiting people with Down syndrome?

This information will be essential in the management of post-operative pain and sedation in children with Down syndrome and congenital heart disease, as well as in general all children with Down syndrome in their pain management. This knowledge may also open a window in the challenging use of psychoactive medications in individuals with Down syndrome. Knowledge about the metabolism of morphine in these patients will guide dosing and therefore limit the clinical post-op risks and side effects these patients are exposed to in all clinical situations where pain control is needed.

Also, identifying the genetic locations which are involved in the metabolism of morphine in this patient population will lead to future understanding of the pharmacogenomics of patients with Down syndrome and assist in the development of studies leading to goal-oriented sedation protocols.

4. February is Heart Awareness Month. What heart-health advice do you have for people with Down syndrome and their families?

As with all children: Exercise regularly, eat healthy, and follow up with cardiologist as recommended.

5. How important is the Crnic Institute Supergroup in promoting collaboration?

This exciting collaboration is one of the few interactions nationally of researchers interested with basic research in Down syndrome with clinical researchers interested with the care and improved outcome of individuals with Down syndrome.

6. How important is the collaboration with The Heart Institute at Children’s Hospital Colorado?

The Sie Center for Down Syndrome collaboration with The Heart Institute at Children’s Hospital Colorado is vital to the outcome of individuals with Down syndrome with heart issues from birth on. Both clinics have ongoing interaction regarding the care of these patients. This current study is an example the collaboration of the Heart institute and the Sie Center for Down Syndrome.

7. Please tell us a little about yourself.

I grew up in Boston and am currently Medical Director at the Sie Center for Down Syndrome at Children’s Hospital Colorado. I received my undergraduate degree from Harvard University, medical degree at the University of Cincinnati College of Medicine, and completed my pediatric residency at Cincinnati Children’s Hospital Medical Center, with my fellowship in Developmental Pediatrics at Boston Children’s Hospital. In addition to my academic position for 25 years, I also was a primary care physician for 21 years in Pediatrics, including many children with special needs, including children with Down syndrome and autism. My research and clinical interests include Down syndrome clinical research, Down syndrome with the co-morbidity of autism, functional MRI application in Down syndrome, clinical database, and preterm infant outcome. My wife, Kris, and I have four children; the youngest, James, has Down syndrome and continues to teach us about life.

8. Is there anything else you’d like to add?

Our group would like to thank the Crnic Institute and Global Down Syndrome Foundation for the opportunity to hopefully open the window of pain medicine management during cardiac surgery in patients with Down syndrome as well as pain management in general.

 

Medical professionals, self-advocates and parents of people with Down syndrome will have access to 14 innovative educational programs across the U.S. and Puerto Rico through $155,000 in Global Down Syndrome Educational Grants.

This year’s grants, varying from $6,000 to $10,000 and benefiting eight local Down syndrome organizations, are being announced on International Day of Persons with Disabilities. In 2012, six organizations received grants from the program, which is a collaboration between the Global Down Syndrome Foundation (“Global”) and the National Down Syndrome Congress (“NDSC”).

“We are so pleased to be able to help local Down syndrome organizations and build capacity in our community,” said Michelle Sie Whitten, executive director of Global. “These organizations have great ideas that truly provide value to people with Down syndrome. They just need some encouragement and funds in order to deliver.”

Grant recipients detailed their ideas, budgets and goals for educational programs as part of their applications, which were reviewed by Global and NDSC for thoroughness, potential and sustainability. More than 50 applications have been submitted through the program.

The 2013 grant recipients are: Down Country, Down Syndrome Association of Brazos Valley, Down Syndrome Association of Central Florida, Down Syndrome Association of Central Oklahoma, Down Syndrome Association of Greater Richmond, Down Syndrome Association of Memphis & the Mid-South, Puerto Rico Down Syndrome Foundation and Red River Valley Down Syndrome Society.

Learn more about the grant recipients and their programs.

Dr. Matt Kennedy

In recognition of November as National Alzheimer’s Disease Awareness Month, the Global Down Syndrome Foundation held a Q&A with Dr. Matt Kennedy, who has received one of the inaugural Crnic Institute Grand Challenge Grants. Kennedy received the award for his research into commonalities between Alzheimer’s disease and Down syndrome, specifically the loss of synapses in the brain and the increased production of a toxic peptide called beta-amyloid.

1. Please describe the nature of your research.

My lab studies how connections between neurons in the brain called synapses are modified by our experiences. This process, termed “synaptic plasticity”, is critical for our ability to learn and remember past events, and is disrupted in numerous neurological disorders and diseases. Recently, with help from the Linda Crnic Instititue, we have been investigating how a protein fragment called amyloid beta destroys synapses and kills neurons in the central nervous system. Amyloid beta is one of the principle neurotoxic proteins responsible for Alzheimer’s disease and builds up rapidly in people with Down syndrome, since they carry an extra copy of the gene responsible for amyloid beta production.

2. How could your research end up benefiting people with Down syndrome?

The average life expectancy for individuals with Down Syndrome has increased dramatically over the past three decades and is now approaching 60 years of age (compared to 25 years of age in 1983!). The bad news is that nearly everyone with Down syndrome will have Alzheimer’s neuropathology by the time they are 40-50 years of age. This is because the gene for the neurotoxic agent responsible for Alzheimer’s (amyloid precursor protein) is located on chromosome 21. Thus any advances in the understanding and treatment of Alzheimer’s will have an enormous impact on people with Down syndrome.

3. How could your research end up benefiting people with Alzheimer’s disease?

Currently, there are no good therapies for Alzheimer’s disease. There has been an enormous amount of effort focused on drugs that block production of beta amyloid. Unfortunately, none of these drugs have worked in clinical trials. Thus, we need to understand more about how amyloid proteins exert their neurotoxic effects if we are going to develop effective therapeutics.

4. How important is the Crnic Supergroup in helping your research and promoting collaboration?

Very important. It has been a wonderful experience to interact with other members of the group. I have learned an enormous amount Down syndrome, and it’s great to see what my colleagues are doing. Several collaborations between my lab and others in the group have already formed. Any time you get this many outstanding scientists together, great things will happen!

5. How important is the Crnic Institute funding for advancing research on the CU campus?

This is a very important funding mechanism. While Down syndrome is one of the more prevalent conditions in the human population, it receives little attention from major funding agencies. This is compounded by the current federal funding climate, which is at a historical low point. Private funding mechanisms like the Linda Crnic Institute grant program are having an enormous impact on sustaining biomedical research programs and allowing scientists to branch into new fields where they could make major contributions.

6. Please tell us a little about yourself.

I recently started my lab in the Department of Pharmcology at the University of Colorado Anschutz Medical Campus in the the fall of 2011. I grew up in Minnesota and went to graduate school at the University of Washington in Seattle. Following graduate school, I did two postdoctoral fellowships-one at the University of California, San Francisco and a second at Duke University. So I have lived in the midwest, on both coasts, and now in Colorado, which I really love so far! My wife is also a scientist and we have twin daughters (just turned 5) who love getting out into the mountains.

7. Is there anything else you’d like to add?

Thank you to the Linda Crnic Institute for supporting my research!! Support from the Linda Crnic Institute has opened a new and promising research avenue for my lab that would not have been possible.

The Global Down Syndrome Foundation has launched a comprehensive directory of Down syndrome medical care centers in the U.S. This important directory provides people with Down syndrome and their families with accurate and useful information about medical care centers near them, by state. The directory includes 66 centers, many of which have filled in all the directory data, including:

• ages served
• dates and hours of operation
• types of medical services and specialties provided
• types of insurance accepted
• contact information
• wait list information

People with Down syndrome have specialized medical needs that sometimes cannot be addressed or assessed by general care providers. To this end, finding medical care centers specializing in patients with Down syndrome may be important.

Input from parents and caregivers, has indicated frustration with the lack of thorough and easily searchable information about such medical centers. The Global Down Syndrome Foundation’s directory will address and aims to reverse this frustration by providing accurate and thorough information about Down syndrome medical care centers in the U.S.

Search the directory of Down syndrome medical care centers at globaldownsyndrome.org/medical-care-centers

Dennis McGuire, PhD

Dr. Barry Martin

Global has hired Down syndrome behavioral expert Dennis McGuire, Ph.D., to help establish a world-class medical care and research center for adults with Down syndrome under the umbrella of the Linda Crnic Institute for Down Syndrome.

It is anticipated that the new center will contribute to research at the Crnic Institute, serve pediatric patients transitioning out of the Anna and John J. Sie Center for Down Syndrome at Children’s Hospital Colorado, collaborate closely with the Crnic Institute’s Alzheimer’s Disease Center and build on the 12 years of expertise of the Denver Adult Down Syndrome Clinic in providing primary care and consultations to adults with Down syndrome.

Through a grant provided by the Global Down Syndrome Foundation, McGuire will start to see patients at the Denver Adult Down Syndrome Clinic with the clinic’s medical director, Dr. Barry Martin.  The grant will assist the clinic to expand from two to four days a month on certain Wednesdays and Fridays already posted from December 2013 through April 2014.

“I am really pleased to work with the wonderful team at Global, Crnic and the Sie Center to provide the best possible service to people with Down syndrome and their families,” said McGuire. “This gives me the opportunity to spend time with unique and beautiful people with Down syndrome while also being able to train the trainer and share my knowledge with folks who will put it to excellent use.”

Read more about the announcement of the medical care and research center for adults with Down syndrome.

 

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The Global Down Syndrome Foundation, the Alzheimer’s Association, and the Linda Crnic Institute for Down Syndrome have awarded $1.2 million in research grants to five scientists for innovative investigations that explore the development of Alzheimer’s disease in individuals with Down syndrome. The goal is to eventually translate the findings into improved treatments for all people with Alzheimer’s.

The organizations are supporting this growing area of study through a new joint grants initiative called “Understanding the Development and Devising Treatments for Alzheimer’s Disease in Individuals with Down Syndrome.”

“The Alzheimer’s Association is very interested in understanding why people with Down syndrome are at such high risk for Alzheimer’s, and how it relates to other variations of the disease, so that we can identify new therapies to treat Alzheimer’s in both the Down syndrome and typical populations,” said Maria Carrillo, Ph.D., Alzheimer’s Association vice president of Medical and Scientific Relations. “Research in this population may also help us develop predictive tools for Alzheimer’s and design more effective clinical trials.”

“Investing with the Alzheimer’s Association has been so rewarding. The science our joint initiative is funding is of the highest caliber, and each grant approaches understanding, treating or preventing Alzheimer’s in people with Down syndrome from a very different angle. If initial results are promising, we hope that the National Institutes of Health will continue to fund this excellent science,” said Michelle Sie Whitten, executive director of the Global Down Syndrome Foundation.

Read more about the grant announcement, and learn about the researchers and their projects.

Kyra Phillips, who received our Quincy Jones Exceptional Advocacy Award last weekend at the Be Beautiful Be Yourself Fashion Show, showed again why she is so deserving of recognition when she stepped up to tell the story of Texas high school cheerleader Brittany Davila last week.

Davila has been a cheerleader on her school squad since junior high but was told she could no longer cheer on the sidelines during games at Deer Park High School because, her mother said, “it was a different coach, and now she can’t do it because it’s a liability.”

Check out the piece that Kyra did on her HLN show, “Raising America with Kyra Phillips,” (the video and full story are available on the HLN website), and let us know: What do you think about schools that tell our kids they can’t be full participants in school sports?

Thanks, Kyra, for always being out there in support of people with Down syndrome!

Read Kyra’s poem, “If You Only Knew Me,” at The Huffington Post.

Over $1.6 million was raised at the Global Down Syndrome Foundation’s annual Be Beautiful Be Yourself Fashion Show on Saturday, Sept. 28, at the Sheraton Downtown Denver Hotel benefiting the Linda Crnic Institute for Down Syndrome, including the Sie Center for Down Syndrome. The gala was sold out, with 1,100 people in attendance.

This year, the annual event honored HLN anchor Kyra Phillips and entrepreneur and restaurant owner Tim Harris with the 2013 Quincy Jones Exceptional Advocacy Awards. Award-winning actor John C. McGinley, the organization’s International Spokesman, presented the award to Phillips, while Jamie Foxx’s sister and inaugural recipient DeOndra Dixon presented the award to Harris.

To celebrate the fifth anniversary of the Be Beautiful Be Yourself Fashion Show, this year’s event featured the foundation’s past five ambassadors: 7-year-old Samantha Marcia Stevens of Massachusetts, 29-year-old Dixon of California, 4-year-old Katherine Vollbracht Winfield of Washington state, 7-year-old Chase Turner Perry of Colorado, and 10-year-old Sophia Kay Whitten of Colorado. They were escorted down the fashion show runway by their family and friends and major supporters of the Global Down Syndrome Foundation.

Celebrity escorts included McGinley, Phillips, supermodel Beverly Johnson, NFL Hall-of-Famer Eric Dickerson, Fox News anchor John Roberts, singer-songwriter Todd Park Mohr, Denver Nuggets players Kenneth Faried and Ty Lawson, Miss Colorado Meg Kardos and Denver Broncos cheerleaders.

Read the full press release.

Dr. James DeGregori

In recognition of September as Blood Cancer Awareness Month, the Global Down Syndrome Foundation held a Q&A with Dr. James DeGregori, who has received one of the inaugural Crnic Institute Grand Challenge Grants. DeGregori received the award for his research into leukemia and Down syndrome, specifically the increase in leukemia incidence and other problems with blood cell production, including reduced immunity, in people with Down syndrome.

1. What is the co-incidence of leukemia and Down syndrome?

While individuals with Down syndrome are at a decreased risk for the development of most solid cancers (~2 fold), they are at a 10-50 fold increased risk of developing leukemia (most commonly B-cell acute lymphoblastic leukemias), with a striking ~500 fold increased risk for acute megakaryoblastic leukemia (AMKL; normally very rare).

2. Please describe the nature of your research.

Down syndrome is associated with a striking increase in leukemia incidence, as well as a variety of other problems associated with blood cell production, including reduced immunity. Using mouse models, we will determine whether deficiencies in blood cell production originate in the reduced function of blood stem cells. Furthermore, we will ask whether the increase in leukemias associated with Down syndrome is actually caused by the stem cell defects: Does the poor health of these stem cells enhance the evolution of leukemias? These studies could indicate mechanisms to improve blood cell function and prevent leukemias in people with Down syndrome.

3. How could your research end up benefiting people with Down syndrome?

If we can better understand how trisomy for chromosome 21 (individuals with Down syndrome have 3 chromosome 21s per cell instead of 2), then we can hopefully develop methods/treatments that can alleviate some of the negative consequences of this trisomy. One of our ideas is that trisomy is inducing a “stress response” in cells, resulting in their reduced function (such as in blood cell production) and also leading to selection for leukemia-causing mutations that overcome this stress response. If we could tone down this stress response, we might be able to lessen both impaired blood cell production and increased leukemia incidence.

4. How important is the Crnic Supergroup in helping your research and promoting collaboration?

Very important. We are already collaborating with Dr. Katheleen Gardiner’s group for the mouse model, and we will share critical gene expression data with other Supergroup members who are also looking at how trisomy impacts cellular programs. Most importantly, when you get a bunch of smart people together with varied expertise, new ideas and new approaches will be generated.

5. How important is the Crnic Institute funding for advancing research on the CU campus?

Absolutely critical. My lab had no involvement in Down syndrome research before last year, so the funding allowed us to enter into this field. And as I mentioned above, the Crnic Institute’s role is more than in just providing necessary funds: They have attracted a lot of bright and innovative scientists in Colorado to better understand and treat a common problem: the negative consequences of trisomy 21.

6. Please tell us a little about yourself?

I have been doing cancer research for almost 30 years. I started doing research at the University of Texas at Austin as an undergraduate (with Dr. Hank Bose), did my thesis research with Dr. Earl Ruley at MIT, and then did postdoctoral training at Duke University with Dr. Joseph Nevins. I have been a faculty member in the CU School of Medicine since 1997. My lab seeks to understand both the evolutionary origins and the vulnerabilities of cancer cells, and most of our studies have focused on leukemias. Our research has been heavily funded by the National Cancer Institute and by the Leukemia and Lymphoma Society.

7. Is there anything else you’d like to add?

My cousin had Down syndrome and succumbed to leukemia when she was about 20. She has always served as an inspiration for our leukemia research, and I have wanted to pursue the connection between Down syndrome and leukemias for many years. The Crnic Institute has provided my lab with this opportunity.