Archive for the ‘Blog’ Category

Global, NDSC Combat Discrimination Against People with Down Syndrome

August 22nd, 2014 by Global Down Syndrome Foundation

Global Down Syndrome Foundation

National Down Syndrome Congress

DENVER & ATLANTA (August 22, 2014) – The Global Down Syndrome Foundation and the National Down Syndrome Congress are outraged and saddened by recent public comments by the British author Richard Dawkins.

In response to a question from a concerned woman about the possibility of having a child with Down syndrome, Dawkins strongly argued for the elimination of people with the condition.

“…The decision to deliberately give birth to a Down baby, when you have the choice to abort it early in the pregnancy, might actually be immoral from the point of view of the child’s own welfare,” Dawkins wrote on his blog.

Global Down Syndrome Foundation executive director Michelle Sie Whitten responded: “It is amazing to me in the 21st century that there is so much misinformation and discrimination against people with Down syndrome. I would hope the world is as appalled by Richard Dawkins’ statements as it was by the recent case of twin baby Gammy, where his Australian biological parents abandoned him to his surrogate in Thailand. The fact is people with Down syndrome can and do live long, happy and productive lives.”

“We firmly believe and advocate that ‘We’re More Alike Than Different,’ and statements like Richard Dawkins’ promote division instead of unity,” said David Tolleson, executive director of the National Down Syndrome Congress. “People with Down syndrome should not be treated like second-class citizens, and anyone making that argument sets back the great progress that has been made in terms of equality for all people.”

The Global Down Syndrome Foundation and the National Down Syndrome Congress strongly advocate for the availability of current and accurate information about Down syndrome. Below are specific facts about the condition in the United States:

  1. Lifespan – Today, the average lifespan of a person with Down syndrome is nearly 60 years.
  2. Termination rates – The best available statistics in the U.S. are that an estimated 67 percent of women who receive an amniocentesis resulting in a positive test result for Down syndrome choose to terminate their pregnancies. But over 95 percent of pregnant women don’t even elect to receive an amniocentesis.
  3. Medical care & research – There have been great strides in medical care and research that have doubled the lifespan of people with Down syndrome over the last 30 years.
  4. Educational opportunities – People with Down syndrome are included in public schools. Many complete high school, and increasing numbers are going to college or get vocational training.
  5. Voting & Employment – Many people with Down syndrome work, volunteer and vote.
  6. Marriage, Siblings & Self-advocates– Despite potential challenges, personal accounts and studies show most families that have a child with Down syndrome are stable, successful and happy, and that siblings often report having increased levels of compassion and empathy. One major study on marriages and Down syndrome shows that the divorce rate among parents of children with Down syndrome is lower than the national average.

For the most current, accurate information and resources associated with people with Down syndrome visit or

About the Global Down Syndrome Foundation

The Global Down Syndrome Foundation is a public nonprofit 501(c)(3) dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy. Formally established in 2009, Global has the primary focus of supporting the Linda Crnic Institute for Down Syndrome, the first academic home in the U.S. committed to research and medical care for people with the condition. Fundraising and government advocacy that corrects the alarming disparity of national funding for people with Down syndrome is a major short-term goal. Global organizes the Be Beautiful Be Yourself Fashion Show — the single-largest annual fundraiser benefiting people with Down syndrome. Programmatically, Global organizes and funds many programs and conferences, including the Dare to Play Football Camp with Ed McCaffrey, the Dare to Cheer Camp with the Denver Broncos Cheerleaders, and the Global Down Syndrome Educational Series. Global is an inclusive organization without political or religious affiliation or intention.

About the National Down Syndrome Congress

Founded in 1973, the National Down Syndrome Congress is the oldest national organization for people with Down syndrome, their families, and the professionals who work with them. A 501(c)(3) nonprofit advocacy organization, the NDSC provides free technical support and information about issues related to Down syndrome throughout the lifespan, as well as on matters of public policy relating to disability rights.  Best known for its annual convention – the largest of its type in the world – the National Down Syndrome Congress is a grassroots organization recognized for its “family” feel, its “We’re More Alike than Different” public awareness campaign, and its outreach to individuals from diverse backgrounds.


Statement from Global Down Syndrome Foundation Executive Director Michelle Sie Whitten in response to the story of a surrogate baby with Down syndrome in Thailand whose surrogate mother says was abandoned by his parents:

The discrimination against people with Down syndrome, even in developed nations, is profound. The abandonment of a surrogate twin boy with Down syndrome to life or death in Thailand clearly underscores this.

The reality is the condition is almost completely different from what it was just 20 years ago. For example, the lifespan of a person with Down syndrome in the 1980s was 28 years old, and today it is nearly 60. And according to a national U.S. poll commissioned by the Global Down Syndrome Foundation, over three-quarters of Americans believe people with Down syndrome have the right to vote, buy a home and get married, with 97 percent of Americans agreeing that people with Down syndrome should have the chance to hold a job and deserve fundamental human and civil rights.

As a first-generation American, Executive Director of the Global Down Syndrome Foundation, a women’s rights advocate living in the 21st century, and a mother of a child with Down syndrome and her typical brother, I would hope that accurate information about Down syndrome would have steered this headline-making Australian couple toward a different, if not educated, decision.

Watch CBS4′s Kathy Walsh interview Global Executive Director Michelle Sie Whitten about the case:

Catching Up with Award-Winning Actor John C. McGinley

August 3rd, 2014 by Global Down Syndrome Foundation

Award-winning actor John C. McGinley expounds on his hit TV show “Ground Floor,” working with Oliver Stone, being an international spokesperson for the Global Down Syndrome Foundation, and his most important role – being a dad to Max, who happens to have Down syndrome. McGinley is also a Global board member and a recipient of Global’s Quincy Jones Exceptional Advocacy Award. McGinley is truly a Global hero. Learn more by watching his Global Tribute Video.

1. You play the tycoon Remington Stewart Mansfield on the new hit comedy Ground Floor, which is getting ready to return for its second season on TBS. Tell us what people love about this prickly hilarious character.

John C. McGinley in Ground Floor
My favorite part about playing R. Stewart Mansfield is that his world is entirely about “integrity” and “mental toughness”! And those two qualities are the cornerstone of how he chooses to approach and resolve every single conflict that may arise each business day. Of course, anytime someone is so dogmatic (with anything) high jinks will ensue! Guaranteed.

2. What is it like working with Skylar Astin (Brody), Briga Heelan (Jennifer) and the rest of the talented cast on Ground Floor? Are you ever forced to break into song?

Working with young studs like Skylar and Briga is heaven! They are both so skilled and capable and available and fresh and prepared and completely fearless. I love them both very much. And I am overwhelmed by how talented they truly are. As far as breaking into a song? Yes. I did do a little tune from “Willy Wonka” last season. I decided to add a touch of a soft-shoe, shuffle step, to the number. And it worked out like a charm!

3. You have an illustrious film career, including starring in seven Oliver Stone films (Platoon, Wall Street, Any Given Sunday, World Trade Center, Nixon, Born on the Fourth of July, Talk Radio). What was it like working with such a legendary director on such important films?

Working with Oliver is just about as good as it gets. He is one of the greatest filmmakers of his generation. And anytime an actor has an opportunity to be part of telling a story with such an astonishing visualist like Oliver? Well, those are the sets that I want to be on!
John C. McGinley in Scrubs

4. For 10 years, you starred as the acerbic and loveable Dr. Perry Cox on the Emmy Award-winning Scrubs. What is your favorite memory from the Scrubs set?

My favorite memory from Scrubs was at the Christmas Party or at the Year End Wrap Party, seeing the children of the cast and crew growing up right before my eyes. In other words, some of those little boys and girls who started out in elementary school back in our first season. By the time we were through with the run of the show 10 years later, they had matured into young men and women who were graduating from high school! Kinda blew my mind.

5. In addition to your award-winning acting career, you are a dedicated husband and father. What’s your secret to balancing work and home life?

I have always tried to treat the people in my family and the people at my job the same way. And that is: with dignity and respect. I try to make inclusion a priority, in how I approach both environments. And I have never shied away from giving tons of love to my “extended” family in the workplace.
John C. McGinley and family

6. Your son Max turns 17 this month. He happens to have Down syndrome. How has that influenced you as a father and as a person?

Max is the one who actually introduced me to love. Prior to Max’s arrival, I thought that I had a pretty fair handle on what love meant. But it turns out, I really didn’t have a clue! And then Max showed up and acquainted me with just exactly what it means to love and be loved.

7. You are a board member and International Spokesperson for the Global Down Syndrome Foundation. Why should people support Global and the work they do?

The Global Down Syndrome Foundation is an organization that aggressively advocates for people born with Down syndrome. But even more than that, the Global Down Syndrome Foundation is a research-driven, clinically based, hospital-equipped, lobbyist-armed, grant-awarding, uniquely visioned, action-oriented association of dedicated doctors and special-needs advocates who will not rest until all people born with this challenge are living full and unlimited lives.
John C. McGinley at the Be Beautiful Be Yourself Fashion Show

8. You are a regular at Global’s award-winning event, the Be Beautiful Be Yourself Fashion Show. What is so special about this event?

We have all been to our fair share of fundraisers, right? The immeasurable difference between the Be Beautiful Be Yourself Fashion Show and all the other events of this ilk is: love. Honest to God. The love in that room is tangible. The audience leaves that event elevated. There is no other evening where those asked to “give” are truly reciprocated with love and exclusion. The audience becomes something that is much bigger, much grander, than their individual selves. And we are better off having attended the Be Beautiful Be Yourself Fashion Show. Fact!

9. In addition to your work with Global, you are a Global Ambassador for Special Olympics and have been an integral part of the “Spread the Word to End the Word” campaign. (Read John’s commentary on the issue from The Huffington Post.) What are your hopes for this campaign’s future and its impact?

We hope that people will refrain from using the words “retard” and “retarded,” and instead choose to sprinkle 10 milligrams of “compassion” and “love” into their language. And perhaps come up with an even better way of expressing those same sentiments, only using different, less offensive words.

10. What is the best advice you were ever given that you would like to pass on?

“Keep movin’!”

The Sie Center – 1,000 Patients in 3 Years

August 1st, 2014 by Global Down Syndrome Foundation

Anna and John J. Sie Center for Down Syndrome

Children from across the United States are benefiting from the efforts of the multi-disciplinary team at the Anna and John J. Sie Center for Down Syndrome at Children’s Hospital Colorado.

The Global Down Syndrome Foundation is a founding donor of the Sie Center and continues to provide financial and advocacy support.

Since opening in 2011, the Sie Center has grown to be one of the largest centers in the United States that specializes in treating children with Down syndrome.

“We see patients from 24 states, especially Colorado and its neighbors,” said Fran Hickey, M.D., Medical Director of the Sie Center and Associate Professor of Pediatrics at Children’s Hospital Colorado. “Our center is really unique because of the collaboration in the hospital and the emphasis on excellent medical care and clinical research.”

Anna and John J. Sie Center for Down Syndrome

A Multi-disciplinary Team and Subspecialty Care

The Sie Center has a multi-disciplinary team of 13 professionals working full-time treating patients with Down syndrome. Medical care, speech therapy, physical therapy, behavioral support, nutrition, assistive technology, social work and access to resources are integrated for each child.

The Sie Center also benefits from being housed in a top ten children’s hospital. Located at the Children’s Hospital Colorado, the Sie Center’s patients have access to over 20 subspecialists at the hospital, who focus on areas such as cardiology, sleep disorders, audiology, otolaryngology, and endocrinology. This is important since children with Down syndrome often are at increased risk for congenital heart conditions, leukemia, autoimmune disorders and sleep apnea.

“We have built a team of professionals dedicated to and passionate about children with Down syndrome,” said Patricia Winders, P.T., Senior Physical Therapist and Director of Therapies at the Sie Center. “This team embodies the difference between going to a typical physician appointment and being referred to specialists in different locations, compared to visiting one place where a group of medical professionals look at your whole child and collaborate about your child’s care. Our families tell us we make them feel at home, listened to, and well cared for.”

Anna and John J. Sie Center for Down Syndrome

Establishing a Baseline for Life-long Health

The medical professionals at the Sie Center have well over 100 years combined experience specializing in care for children with Down syndrome. Winders, who has just completed her 2nd edition of Gross Motor Skills for Children with Down Syndrome, has over 30 years of experience in treating children with this diagnosis. Her focus is on creating a healthy foundation for posture and movement, and a positive encouraging environment to meet milestones.

“We help children develop the strength, posture and motor skills they will need to be active as adolescents and beyond, so that as they mature, they can choose to do what they love,” she said.

Dr. Hickey and others at the Sie Center are designing and engaged in clinical research studies that will address a variety of issues including sleep apnea, swallow and feeding issues, pain management, and autoimmune disorders. Currently, Down syndrome research receives the least amount of federal funding of any genetic condition.

“Our research is going to benefit children with Down syndrome and typical children alike, since medical problems such as sleep apnea may affect any pediatric patient,” Dr. Hickey added. “We want to help children and families function as well as possible in every realm — health, education, and social well-being.” With excellent feedback from many of its 1,000 families it is clear the Sie Center and is delivering on its important mission to provide life-changing health care to children with Down syndrome.

To learn more about the multidisciplinary team at the Sie Center or to schedule an appointment, call 720-777-6750 or visit

Alzheimer’s initiative receives $250,000 from state of Colorado

July 31st, 2014 by Global Down Syndrome Foundation

Colorado Gov. John Hickenlooper signs Senate Bill 14-211 into law on June 5, 2014

Colorado Gov. John Hickenlooper signs Senate Bill 14-211 into law on June 5, 2014

Donate to the Alzheimer’s research initiative today

The Global Down Syndrome Foundation’s Alzheimer’s disease initiative received a big boost from the state of Colorado this year when Governor John Hickenlooper signed a bill passed by the state legislature that allocates $250,000 to the first Alzheimer’s disease research & clinical center in Colorado.

Senate Bill 14-211 was approved 35-0 by the Colorado Senate and 62-3 by the Colorado House, and was signed into law by Governor Hickenlooper on June 5th. The state’s initial investment of $250,000 will be received in fiscal year 2014. “It is declared to be the policy of this state to achieve the maximum practical degree of care and treatment for persons suffering from Alzheimer’s and related diseases,” the bill states.

The success of the bill is credited to Governor Hickenlooper and bill co-sponsors Senator Michael Johnston, Senator David Balmer, Rep. Dickey Hullinghorst and Rep. Mark Waller.  A key issue for legislators is addressing the fact that Colorado is one of the fastest-growing states in terms of Alzheimer’s disease as a percentage of the population. Currently, an estimated 200,000 people in Colorado and adjacent states have Alzheimer’s, at an estimated societal cost of $17 billion a year.

World Down Syndrome Day at the Colorado CapitolThe new Center is housed at the University of Colorado School of Medicine at the Anschutz Medical Campus in Aurora. It is the first such center in a 600-mile radius of Denver and a much needed resource for families in the region.

Huntington Potter, Ph.D., is the founder and director of the Center and was recruited by the Global Down Syndrome Foundation, the Linda Crnic Institute for Down Syndrome, and the Department of Neurology at CU.

Potter is a renowned Alzheimer’s disease researcher who discovered the mechanistic relationship between Alzheimer’s disease and Down syndrome. Unfortunately, 100% of people with Down syndrome have the brain pathology of Alzheimer’s disease and an estimated 50% will develop dementia symptoms before age 50.

People with Down syndrome by definition are born with three copies of chromosome 21 instead of two. People with Alzheimer’s disease have many cells with three copies of chromosome 21. As the amyloid precursor protein gene (APP) resides on chromosome 21, these trisomy 21 cells produce excess APP and its product, the Alzheimer beta peptide, contributing to the development of Alzheimer’s disease pathology.

Recognizing that these conditions are two sides of the same coin and studying them together will hasten the development of new treatments for both. The key is to discover why many people with Down syndrome and some people with typical age-related Alzheimer’s disease can have the pathology in the brain but not develop dementia.

“The support of our state leadership is crucial to ensuring this center’s success,” said Michelle Sie Whitten, executive director of the Global Down Syndrome Foundation, “but we will need broad-based community support as well. Global and CU have a daunting but important task in front of us – to raise awareness and endowed funds to ensure that people in this region with Alzheimer’s disease, including those with Down syndrome, can get the best care and participate in the best trials.”

The CU Department of Neurology has recruited Jonathan Woodcock, M.D., who has already seen close to 1,000 patients, including people with Down syndrome. Potter is also launching the Center’s first clinical trial looking at Leukine in people with early onset of Alzheimer’s disease after his lab discovered the protein that likely explains why people with rheumatoid arthritis rarely get Alzheimer’s disease.

“Our first goal is to create — within the next three years — a comprehensive, nationally recognized Alzheimer’s disease patient care center and research institute that will serve the people of Colorado and surrounding states,” Potter said.

To this end, Potter has submitted a grant to the National Institute on Aging (NIA) for recognition as an Alzheimer’s Disease Research Center of excellence.

Currently, there are 27 NIA-designated Alzheimer’s Disease Research Centers in the United States. An estimated 5.4 million Americans are currently living with Alzheimer’s disease, a number that is expected to more than double by 2050. Annual costs related to Alzheimer’s and other dementias exceed $200 billion.

In 2013, the Global Down Syndrome Foundation, the Linda Crnic Institute and the national Alzheimer’s Association established the Down Syndrome-Alzheimer’s Disease Investigator Program.  The program has funded $1.2 million in grants to investigators around the world.

Learn more about Global’s Alzheimer’s Initiatives.

Crnic Institute-affiliated program names Mary Allen, Geertruida Josien Levenga, Alfonso Garrido-Lecca

DENVER (July 8, 2014) – The BioFrontiers Institute at the University of Colorado launched its inaugural Sie Post-doctoral Fellowship Program in affiliation with the Linda Crnic Institute for Down Syndrome on the Anschutz Medical Campus. The program will fund three post-doctoral researchers, Sie Fellows, who will focus on research that will improve the lives of individuals with Down syndrome.

The Sie Fellows research is co-funded by the BioFrontiers Institute and the Anna and John J. Sie Foundation. Every two years, three Sie Fellows will be selected from a competitive grant process and will receive between $71,000 and $85,000 a year for two years.

Nobel Laureate and head of the BioFrontiers Institute Thomas Cech, BioFrontiers Chief Scientific Officer (CSO) Leslie Leinwand, and Executive Director of the Crnic Institute Tom Blumenthal were key in assessing the 44 applicants prior to deciding on the inaugural three recipients: Mary Allen of CU-Boulder’s Department of Molecular, Cellular and Developmental Biology (MCDB), Geertruida Josien Levenga of CU-Boulder’s Institute of Behavioral Genetics, and Alfonso Garrido-Lecca of MCDB.

“The projects being carried out by the Sie Fellows are key to significantly improving the lives of people with Down syndrome and to eradicating the medical and cognitive ill effects associated with the condition,” said Leinwand. “The support of early-stage post-doctoral fellows is crucial in any research operation, and these awards make it possible for faculty to increase their commitment to this important cause.”

The BioFrontiers Institute was formed in 2011 to bring together faculty members from the life sciences, physical sciences, computer science and engineering with the passion and skills needed to research across traditional disciplines and tackle difficult medical issues, under the leadership of Cech, the institute’s director.

“The research embodies the kind of cutting-edge interdisciplinary approach to biomedical problems that BioFrontiers is all about,” Cech said.

“The fact that there were 44 applicants for three awards underscores how exciting research for Down syndrome is, and the potential for real scientific contribution,” said Blumenthal. “With our Supergroup of 60 scientists working on Down syndrome and meeting monthly from different disciplines and different schools, we are truly making a difference for this special population and their families.”

“The Global Down Syndrome Foundation is pleased to add these outstanding researchers to our future portfolio of research we aim to fund and advocate for. Their research is already so relevant,” said Michelle Sie Whitten, executive director of the Global Down Syndrome Foundation, the fundraising and advocacy arm of the Crnic Institute.

Allen’s research involves genetic sequencing data from people with Down syndrome and their parents to understand how an extra copy of chromosome 21 puts people with Down syndrome at higher risk for health issues such as heart defects, thyroid conditions, leukemia, Alzheimer’s disease, and respiratory and hearing problems, but at lower risk for heart attack, stroke and solid-tumor cancers.

Levenga, who is a neuroscientist, is conducting research into ameliorating the seizures that afflict many people with Down syndrome.

Garrido-Lecca will test the hypothesis that alteration of microRNA levels in people with Down syndrome contributes to some of their health challenges.

Down syndrome is the most commonly occurring chromosomal condition, affecting one out of every 691 live births in the U.S., according to the Centers for Disease Control and Prevention. Because of the end of widespread institutionalization, better medical care, improved access to education and greater societal inclusion, people with Down syndrome are living longer and more productive lives, with the average life span increasing from 25 years in 1983 to 60 years today.

Come Join Us at the NDSC Convention in Indianapolis

July 9th, 2014 by Global Down Syndrome Foundation

Global at NDSC

2014 National Down Syndrome Congress Convention

July 11-13, 2014
JW Marriott – Indianapolis, IN

Global Down Syndrome Foundation – Booth #80
Linda Crnic Institute for Down Syndrome – Booth #79
Anna and John J. Sie Center for Down Syndrome – Booth #79

Catch up on the latest Global News! Sign up for our drawings and learn about our great medical care.

Impact for Families from a New Down Syndrome Clinic
Dr. Fran Hickey, Medical Director, Anna and Jon J. Sie Center for Down Syndrome
Friday, July 11, 3:30 pm – 5:00 pm, Room 202

Latest Legislative Developments: How They Impact You
Michelle Livingston, Sr. Director of Operations & Government Affairs, Global Down Syndrome Foundation, and Susan Goodman, Government Affairs Director, NDSC
Saturday, July 12, 8:30 am – 10:00 am, Room 201

Prenatal Testing: How to Get the Facts to Pregnant Women
Michelle Sie Whitten, Executive Director, Global Down Syndrome Foundation, and David Tolleson, Executive Director, NDSC
Saturday, July 12, 10:30 am – noon, Room 313

Biomedical Research on Down Syndrome and Alzheimer’s Disease:
the Many Paths to Improved Futures

Dr. Tom Blumenthal, Executive Director, Linda Crnic Institute for Down Syndrome
Saturday, July 12, 10:30 am – noon, Room 201

Gross Motor Skills in Children with Down Syndrome – Birth to Walking Skills
Pat Winders, Senior Physical Therapist, Anna and John J. Sie Center for Down Syndrome
Saturday, July 12, 10:30 am – noon, Room 202-203

Announcement: Global Down Syndrome Educational Grant Recipients
Join Global Down Syndrome Foundation and National Down Syndrome Congress
as we celebrate the 2014 grant winners!
Saturday, July 12, 1:30 pm – 3:00 pm, Plenary Session, Grand Ballroom 5

Gross Motor Skills in Children with Down Syndrome – Post-Walking Skills
Pat Winders, Senior Physical Therapist, Anna and John J. Sie Center for Down Syndrome
Saturday, July12, 3:30 pm – 5:00 pm, Room 202-203

Promoting Strengths and Resources in Teens and Adults with Down Syndrome
Dennis McGuire, PhD, Senior Consultant, Global Down Syndrome Foundation
Sunday, July 13, 10:30 am – noon, Grand Ballroom 8


Q&A with Dr. Tamim H. Shaikh

April 22nd, 2014 by Global Down Syndrome Foundation

Tamim H. Shaikh, PhD

Tamim H. Shaikh, PhD

In recognition of April as Autism Awareness Month, the Global Down Syndrome Foundation held a Q&A with Dr. Tamim H. Shaikh, Associate Professor of Pediatrics at the University of Colorado Anschutz Medical Campus. Dr. Shaikh has received one of the inaugural Crnic Grand Challenge Grants to study the genetic modifiers of autism spectrum disorders in patients with Down syndrome.

1. What is the correlation between Down syndrome and autism?

A majority of individuals with Down syndrome have mild to moderate cognitive impairment or intellectual disability. But a significant number of children with Down syndrome have a more severe form of cognitive impairment with behavioral and developmental issues that are diagnosed as autism spectrum disorders (ASD). The incidence of ASD in individuals with Down syndrome is estimated to be as high as 10 percent, which is substantially higher than the general population.

2. Please describe the nature of your research.

We are interested in discovering the genetic factors which increase the risk of ASD in Down syndrome. We know that all individuals with DS have an extra copy of chromosome 21. But, the question that remains is whether there are additional genetic differences that are found only in individuals who have both Down syndrome and ASD and not in individuals with Down syndrome who do not have ASD. In order to accomplish this, we will analyze the genomes of children with only Down syndrome and those with Down syndrome and ASD using cutting-edge genome analysis tools.

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

Some phenotypes are consistently present in all individuals with Down syndrome, while some like ASD are not always present in all individuals with Down syndrome. If we are able to identify genetic factors that are unique to the individuals that have Down syndrome and ASD, this may help us develop therapeutic interventions to help alleviate social and behavioral impairments associated with ASD in individuals with Down syndrome.

4. How could your research end up benefiting people with autism?

It is possible that genetic factors that influence the risk of ASD in individuals with Down syndrome may be the same or similar to the genetic factors that influence the risk of ASD in the general population. Thus, the genetic factors identified in our study can be quickly tested in a larger population of individuals with ASD. Furthermore, our findings may also shed light on the types of genes and gene families that are important for proper brain development, providing potential candidate genes that can be tested in individuals with autism in the general population.

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

The Crnic Supergroup was a great idea! Its formation has been instrumental in promoting collaboration and exchange of ideas among a diverse group of researchers with different expertise. This has led to some very interesting discussions and innovative solutions toward improving the outcomes of individual research projects. My own research has benefited immensely by my interactions with members of the Supergroup. The different perspectives and expertise of Supergroup members have made me aware of new ways to think about my research and have often brought my attention to better methodologies and approaches that has improved the efficiency of my work. I think that many of the ideas and innovations resulting from our discussions have the potential to help the larger research community, whether they are studying Down syndrome or other conditions.

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

The Linda Crnic Institute has become an extremely important source of funding for research on the CU campus. This funding has succeeded in attracting a group of highly motivated and innovative scientists on the CU campus to explore how they can apply their expertise and experience to the of study Down syndrome. The seed funds provided by the Crnic Institute grants are critical to the development of research projects studying various aspects of Down syndrome, which remains one of the most underfunded areas of research. These pilot projects are important in generating preliminary data, which in the near future will allow researchers at CU to attract funding from the National Institutes of Health and other funding agencies.

7. Please tell us a little about yourself.

I grew up in Mumbai, India, where I received my undergraduate degree from Mumbai (Bombay) University, before coming to the U.S. for graduate studies. I got my doctoral degree in Molecular Genetics at the Louisiana State University Medical Center in New Orleans, and did my postdoctoral training in Human Genetics at the Children’s Hospital of Philadelphia (CHOP). Before coming to University of Colorado, I was an Assistant Professor at the University of Pennsylvania School of Medicine and CHOP. I am currently an Associate Professor in the Department of Pediatrics at the Anschutz Medical Campus of the University of Colorado. I have been studying the genetic basis of multiple birth defects for almost 20 years. One of my major research interests is studying conditions associated with chromosomal imbalances in which there is either loss (deletion), gain (duplication) or rearrangement (translocation, inversion) of genetic material. Most often, children with these types of genomic rearrangements will have multiple symptoms with intellectual disability, developmental delay, autism spectrum disorders and other behavioral symptoms being the most common findings along with many other highly variable phenotypes. We are interested in determining the genetic factors that contribute to the variability in symptoms observed in individuals with the same apparent genetic/genomic defect.

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

Down syndrome has many similarities to the conditions I study, as it is also characterized by having some consistent phenotypes but also many variable ones. Thanks to the funding from the Linda Crnic Institute, I am able to bring my expertise in studying genomic variation to the question of why many individuals with Down syndrome are at a higher risk of having autism spectrum disorders. This work would not have been possible without the support of the Crnic Institute.

Seniors Raise Awareness for Down Syndrome

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.

Seniors Raise Awareness for Down Syndrome

“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.


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

Q&A with Dr. Francis Hickey

February 25th, 2014 by Global Down Syndrome Foundation

Dr. Francis Hickey

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.