Archive for the ‘Press Releases’ Category

The Landmark NIH Grant Will Fund a Network of Clinical Research Sites Across Latin America to Harmonize Data and Understand Clinical Characteristics and Potential Differences in Care

AURORA, Colo. November 26, 2024 – A landmark $2.7 million grant from the National Institutes of Health (NIH) INCLUDE Project will support the Human Trisome Project – Latin America Network, a network of research and medical care sites across the United States and in Latin America to investigate the clinical characteristics and to identify distinguishing health issues or treatments for Latinos with Down syndrome. According to the U.S. Census Bureau’s American Community Survey, Hispanic and Latino Americans make up 19.1% of the U.S. population and are the nation’s fastest-growing ethnic group.

This innovative study will be led by scientists at the Linda Crnic Institute for Down Syndrome at the University of Colorado Anschutz Medical Campus and collaborators at Colorado State University. It is part of a larger effort launched by NIH INCLUDE Project known as the Down Syndrome Cohort Development Program (DS-CDP) that aims to study people with Down syndrome from birth to adulthood with unprecedented detail.

“We are thrilled that the NIH selected the Human Trisome Project to develop an international component for their INCLUDE Project,” says Joaquín Espinosa, PhD, executive director of the Crnic Institute and lead principal investigator. “Although Latinos are the fastest growing segment of the population with Down syndrome in the U.S., little is known about the potential differences in their developmental and clinical profiles. With this generous grant we will complete a comprehensive annotation of demographic information, social determinants of health, co-occurring conditions, and lifestyle factors.”

In the first two years of the study, multiple sites across the U.S. and Latin America will develop a shared protocol, including clinical characterization and collection of biospecimens, with the recruitment slated to begin in 2025. The Latin American network builds on the Human Trisome Project, a large cohort study of people with Down syndrome led by the Crnic Institute. The initiative will establish primary sites in the U.S., Mexico, Colombia, Brazil, Argentina, and Chile, while conducting feasibility studies in Venezuela and Bolivia.

“Our research protocol will be deployed in multiple languages and with appropriate cultural adaptations,” explains Deborah Fidler, PhD, professor of human development and family studies at Colorado State University and principal investigator of the study. “We are eager to learn about the lives of people with Down syndrome in Latin American countries, and we believe these discoveries will lead to new insights about promoting well-being in this population across cultural contexts.”

Researchers at each Latin American site will use a common protocol to assess how variations in race and ethnicity, geography, dietary habits, socio-economic status, and cultural factors influence the developmental and clinical features of Down syndrome.

“Latinos are not a monolithic group, and Latin America is undoubtedly one of the most diverse geographical areas in the world,” says Angela Rachubinski, PhD, assistant research professor of pediatrics and principal investigator of the study. “By comparing Latinos in the U.S. to those in various Latin American countries, we hope to identify risk and resiliency factors that could change the presentation of Down syndrome.”

“We are so grateful to the brilliant scientists at the Crnic Institute, for acting globally and ensuring diversity in our research efforts,” says Michelle Sie Whitten, President & CEO of Global Down Syndrome Foundation, a partner and an Affiliate organization of the Crnic Institute. “We are proud that GLOBAL’s advocacy work with Congress and with the NIH has led to the establishment of the trans-NIH Down syndrome funding program, the INCLUDE Project, that underwrites this and numerous other groundbreaking studies and clinical trials.”

This study will be supported by the Eunice Kennedy Shriver National Institute of Child Health & Human Development of the National Institutes of Health under Award Number U01HD116469. The content of this press release is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health

About the Linda Crnic Institute for Down Syndrome 

The Linda Crnic Institute for Down Syndrome is one of the only academic research centers fully devoted to improving the lives of people with Down syndrome through advanced biomedical research, spanning from basic science to translational and clinical investigations. Founded through the generous support and partnership of the Global Down Syndrome Foundation, the Anna and John J. Sie Foundation, and the University of Colorado, the Crnic Institute supports a thriving Down syndrome research program involving over 50 research teams across four campuses on the Colorado Front Range. To learn more, visit www.crnicinstitute.org or follow us on Facebook and Twitter @CrnicInstitute. 

About the University of Colorado Anschutz Medical Campus

The University of Colorado Anschutz Medical Campus is a world-class medical destination at the forefront of transformative science, medicine, education and patient care. The campus encompasses the University of Colorado health professional schools, more than 60 centers and institutes, and two nationally ranked independent hospitals – UCHealth University of Colorado Hospital and Children’s Hospital Colorado – which see more than 2 million adult and pediatric patient visits yearly. Innovative, interconnected and highly collaborative, the University of Colorado Anschutz Medical Campus delivers life-changing treatments, patient care and professional training and conducts world-renowned research fueled by $705 million in research grants. For more information, visit www.cuanschutz.edu.

About Colorado State University

Colorado State University, one of the nation’s top-performing public research institutions, has more than 33,000 students. Founded in 1870 as Colorado’s land-grant institution, CSU is renowned for its world-class faculty and research and academic programs in infectious disease, atmospheric science, clean energy technologies, human and animal health, environmental science, global business and more. CSU graduates on average carry less student debt and are employed at higher rates than their peers nationwide.

About Global Down Syndrome Foundation 

The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL established the first Down syndrome research institute and supports over 400 scientists and over 2,500 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and care. GLOBAL has a membership of over 100 Down syndrome organizations worldwide, and is part of a network of Affiliates – the Crnic Institute for Down Syndrome, the Sie Center for Down Syndrome, the University of Colorado Alzheimer’s and Cognition Center – all on the Anschutz Medical Campus, and the GLOBAL Adult Down Syndrome Clinic at Denver Health. GLOBAL’s widely circulated medical publications include Global Medical Care Guidelines for Adults with Down Syndrome, Prenatal & Newborn Down Syndrome Information, and the award-winning magazine Down Syndrome World TM. GLOBAL also organizes the annual AcceptAbility Gala in Washington DC, and the annual Be Beautiful Be Yourself Fashion Show, the largest Down syndrome fundraiser in the world. Visit globaldownsyndrome.org and follow us on social media Facebook, X, Instagram, and LinkedIn.

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Largest Down syndrome fundraiser in the world attracts over 1,400 guests from 18 states and 10 countries, raising funds for life-saving and transformative research and medical care.

DENVER—November 18, 2024—On On Saturday, November 16, Global Down Syndrome Foundation (GLOBAL) raised $2.5 million at their Be Beautiful Be Yourself Fashion Show, held at the Sheraton Denver Downtown Hotel. Now in its 16^th year, GLOBAL’s marquee event is the largest fundraiser for Down syndrome in the world, raising a cumulative $30.5 million since its inception.

Red carpet appearances were made by Jessica Biel, Emmy-nominated actor, producer, and her niece and goddaughter GLOBAL Ambassador Zaya Biel; Laura Linney, Academy Award-nominated and award-winning television and film actress; Bobby Farrelly, acclaimed film director, screenwriter, and producer; John C. McGinley, award-winning film and TV actor; Caterina Scorsone, beloved actress from the longest primetime TV drama on ABC, Grey’s Anatomy, and her castmates Alexis Floyd, Adelaide Kane, and Niko Terho; Amanda Booth, model and actress; Kellyn Acosta, professional soccer player; beloved actors Madison Tevlin, Max Carver, Shelley Hennig, Beverley Mitchell, Matthew Von der Ahe, Kevin Iannucci, and James Day Keith.

The 2024 Quincy Jones Exceptional Advocacy Awardees, Academy Award-nominated actor Woody Harrelson and Ukrainian American actress, model, author, and advocate Sofia Sanchez received a standing ovation for their heartfelt speeches.

“Having lost Quincy Jones so recently was difficult for us, so we dedicated this year’s fashion show to him and were able to put together a tribute video in his honor,” says John J. Sie, GLOBAL Board Member and long-time friend of Quincy’s. “I don’t think there was a dry eye in the house.”

Upon receiving her award following an introduction by GLOBAL President & CEO, Michelle Sie Whitten, Sanchez ended her speech with a promise: “GLOBAL, you are the bravest of us all for paving the way with your research, your medical care, and your advocacy. Thank you to my family, my teachers, and my community for always supporting me. I’m so honored to accept this award and I promise to keep spreading hope, love and kindness to the world!” 

“As I move forward, I am committed to using my voice to continue advocating for greater representation and inclusion of people who are differently abled in all spaces—whether on screen, in workplaces, or within our communities,” said Harrelson in his acceptance speech.

Award-winning local NBC anchors Kim Christiansen and Tom Green emceed the event. Denver Broncos cheerleaders Mikayla and Vika, and 2023 Miss CO for America April Hawkins joined the celebrity line-up and rocked the runway, which also featured 18 brilliant and beautiful models who happen to have Down syndrome (in alphabetical order): Aubry Alldredge, Zaya Biel, Clarissa Capuano, Ashley Davies, Ty Dillon, Elliot Dougherty, Grace Gerenser, Ethan Hagan, Grace Harrison, Sawyer Kennedy, Guion Macsovits, CC Mullen, Abel Porter, Lou Rotella, Sofia Sanchez, Mila Toffling, Robert Wallop, and Bria Wright. 

Carol & Dominic Capuano and Gia Price proudly served as this year’s Event Chairs. Past event chairs include Luisa Law and Amanda Precourt, Amanda Booth, Lou III and Jill Rotella, Tom and Michelle Whitten, Kacey Bingham and Brittany Bowlen, Peter Kudla, Maureen Regan Cannon, Anna and John J. Sie, Sharon Magness Blake and Ernie Blake, Ricki Rest, and Nancy Sevo.

Auctioneer Grant Snyder led a successful cash call and sold once-in-a-lifetime packages including friends and family tickets to Justin Timberlake’s ‘Forget Tomorrow’ World Tour; lunches with Caterina Scorsone & Amanda Booth as well as with Max Carver & Shelley Hennig; a private dinner with Denver Broncos’ Alex Singleton and two other players; a soccer birthday party with MLS star Kellyn Acosta; a captivating painting, “Cake, Stacked,” by renowned artist Gary Komarin; an exclusive tailored-made necklace for GLOBAL by Hyde Park | The 1916 Company modeled by Amanda Booth, and the Selkie dress she was wearing; a lovely Sicily holiday including multiple catered dinners donated by Riccardo Mazzeo and Three Tomatoes Catering; incredible luxury getaways – Cabo San Lucas, Mexico, thanks to Lou III & Jill Rotella, Tamarindo, Costa Rica, thanks to Mike & Michelle Belitz – IQ Luxe Resort Properties, and Los Angeles, CA for a live taping of The Voice.

Proceeds from GLOBAL’s Be Beautiful Be Yourself Fashion Show help underwrite life-changing and life-saving research and medical care at GLOBAL’s affiliates – the Crnic Institute for Down Syndrome, Alzheimer’s & Cognition Center, and the Sie Center for Down Syndrome at Children’s Hospital Colorado all at the Anschutz Medical Campus. The fashion show would not be possible without the generosity of GLOBAL’s Leadership Circle, sponsors, Ambassadors, Q-Awardees, models, Down syndrome partner organizations, celebrities, self-advocates and families.

To learn more about the Be Beautiful Be Yourself Fashion Show, view photos, or to donate, visit bebeautifulbeyourself.org.

To learn more about the Global Down Syndrome Foundation, visit www.globaldownsyndrome.org.

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About Global Down Syndrome Foundation

The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL has donated more than $32 million to establish the first Down syndrome research institute supporting over 400 scientists and over 2,500 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and care. GLOBAL has a membership of over 100 Down syndrome organizations worldwide, and is part of a network of Affiliates – the Crnic Institute for Down Syndrome, the Sie Center for Down Syndrome, and the University of Colorado Alzheimer’s and Cognition Center – all on the Anschutz Medical Campus.

GLOBAL’s widely circulated medical publications include Global Medical Care Guidelines for Adults with Down Syndrome, Prenatal & Newborn Down Syndrome Information and the award-winning magazine Down Syndrome World^TM. GLOBAL also organizes the annual AcceptAbility Gala in Washington DC, and the annual Be Beautiful Be Yourself Fashion Show, the largest Down syndrome fundraiser in the world. Visit globaldownsyndrome.org and follow us on social media (Facebook & Twitter: @GDSFoundation, Instagram & Youtube: @globaldownsyndrome, LinkedIn: @global-down-syndrome-foundation).

AAP Health Supervision for Children and Adolescents will be translated into multiple languages and freely distributed around the world.

Denver, Itasca, IL, Nov. 12, 2024 (GLOBE NEWSWIRE) — Global Down Syndrome Foundation (GLOBAL), the leading Down syndrome research, medical care and advocacy non-profit in the U.S., and the American Academy of Pediatrics (AAP), an organization of 67,000 pediatricians, are joining forces to ensure that the Academy’s recommendations for health care for children and adolescents with Down syndrome are available in multiple languages and provided digitally at no cost around the world. 

As part of this collaboration, the AAP recommendations have been translated into Spanish, Italian, Swahili, and Albanian. All of the translations are available at no cost on the AAP and GLOBAL websites as well as through in-country collaborators including: Centro UC Síndrome de Down, Policlinico Universitario Agostino Gemelli IRCCS, Chadron’s Hope Foundation, Down Syndrome Albania, and Down Syndrome Kosova. GLOBAL’s translation work is in part funded by the following donors: The Stephens Family, The Napoleone Family, and Charles Monfort. 

“We are pleased to collaborate with the Global Down Syndrome Foundation to provide this important resource to people in the U.S. who are English language learners and to those who are culturally and linguistically diverse,” said Debra Waldron, MD, MPH, FAAP, Senior Vice President, Healthy Resilient Children, Youth & Families at the AAP. “The Academy’s mission is dedicated to the health of all infants, children and adolescents, and this project will improve access to evidence-based recommendations to help all children thrive.”

“GLOBAL and our families are so grateful to the AAP for creating and updating these transformative pediatric guidelines,” says Michelle Sie Whitten, Global Down Syndrome Foundation President & CEO. “It is important for our families to know that our children need annual check-ups with specific screenings and assessments that typical children may not need and what to look out for. Our Vice President of Research & Medical Care, Bryn Gelaro, and the amazing team at the AAP are working hard to make sure children with Down syndrome can reach their potential starting with good health.”

The AAP clinical report, Health Supervision for Children and Adolescents with Down Syndrome, was updated in April 2022. The updates include an expanded section on eye conditions (e.g. glaucoma and keratoconus), autoimmune conditions, feeding and respiratory conditions, and information for communicating a diagnosis with a family. Other changes include recognition of an increased prevalence for autism spectrum disorder (7-19% up from 1%), emphasis on associated behavioral health conditions, and special considerations for use of psychiatric medications in individuals with Down syndrome.  A family-friendly interpretation of the recommendations is available on HealthyChildren.org, the Academy’s website for parents and caregivers.

GLOBAL is working with professional medical translators in the U.S. and in-country Down syndrome medical organizations and professionals to ensure that the translations are accurate, and that the family-friendly version is easy to read. The following languages and collaborators are being lined up for 2025 and 2026: Ukrainian with Ukrainian Down Syndrome Organization, and Portuguese, Hindi and Chinese with collaborators yet to be identified.  

There are an estimated 400,000 people with Down syndrome living in the U.S. and over 6 million worldwide. In the U.S. live births have increased from 1 in 1,000 in 2000 to 1 in 691. In addition, the lifespan of people with Down syndrome has increased from 28 years old in the 1980s to 60 years old today. Despite the increase in population, there are only 12 specialty clinics for adults Down syndrome in the U.S. Increasing translational research, creating more free and accessible health guidelines, and the immune system, obstructive sleep apnea and regression have been identified by the NIH INCLUDE Project as key to improving health outcomes for children and adults with Down syndrome.

To Access the AAP Health Supervision for Children and Adolescents with Down Syndrome for Clinicians in English, visit https://publications.aap.org/pediatrics/article/149/5/e2022057010/186778/Health-Supervision-for-Children-and-Adolescents?autologincheck=redirected

To Access the AAP Health Supervision for Children and Adolescents with Down Syndrome for Families in English, visit https://www.healthychildren.org/English/health-issues/conditions/developmental-disabilities/Pages/children-with-down-syndrome-health-care-information-for-families.aspx

To Access the AAP Health Supervision for Children and Adolescents with Down Syndrome for Clinicians and/or Families in Other Languages, visit https://www.globaldownsyndrome.org/aap-health-supervision-translations

To learn more about GLOBAL Medical Care Guidelines for Adults with Down Syndrome, visit https://www.globaldownsyndrome.org/medical-care-guidelines-for-adults/

To learn more about Global Down Syndrome Foundation, visit www.globaldownsyndrome.org

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About Global Down Syndrome Foundation

The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL established the first Down syndrome research institute and supports over 400 scientists and over 2,500 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and care. GLOBAL has a membership of over 100 Down syndrome organizations worldwide, and is part of a network of Affiliates – the Crnic Institute for Down Syndrome, the Sie Center for Down Syndrome, the University of Colorado Alzheimer’s and Cognition Center – all on the Anschutz Medical Campus, and the GLOBAL Adult Down Syndrome Clinic at Denver Health. 

GLOBAL’s widely circulated medical publications include Global Medical Care Guidelines for Adults with Down Syndrome, Prenatal & Newborn Down Syndrome Information, and the award-winning magazine Down Syndrome World TM. GLOBAL also organizes the annual AcceptAbility Gala in Washington DC, and the annual Be Beautiful Be Yourself Fashion Show, the largest Down syndrome fundraiser in the world. Visit globaldownsyndrome.org and follow us on social media Facebook, X, Instagram, and LinkedIn. 

About American Academy of Pediatrics

The American Academy of Pediatrics is an organization of 67,000 primary care pediatricians, pediatric medical subspecialists and pediatric surgical specialists whose mission is to attain optimal physical, mental, and social health and well-being for all infants, children, adolescents, and young adults. For frequent updates on AAP recommendations, Pediatrics studies, AAP in the news, public awareness campaigns, information for parents and more, follow us on social media @AmerAcadPeds.

Reserve Your Table at the Be Beautiful Be Yourself Fashion Show, the Largest Down Syndrome Fundraiser in the World

DENVER – October 8, 2024— Global Down Syndrome Foundation (GLOBAL) is honored to announce exciting celebrity additions to attend their annual Be Beautiful Be Yourself Fashion Show, the largest Down syndrome fundraiser in the world: Woody Harrelson, Academy Award-nominated actor; Jessica Biel, Emmy-nominated actor and producer; Laura Linney, Academy Award-nominated and award-winning television and film actress; Bobby Farrelly, acclaimed film director, screenwriter, and producer; and beloved actors Madison Tevlin, Max Carver, Matthew Von der Ahe, Kevin Iannucci, and James Keith.

The award-winning event is co-chaired by Carol and Dominic Capuano, and Gia Price, and will be held on Saturday, November 16^th at the Sheraton Denver Downtown Hotel. Proceeds will benefit GLOBAL’s life-saving and transformative research and medical care. Tables, tickets, and model sponsorships are limited, so please reserve and purchase today.

The full slate of celebrities includes previously announced John C. McGinley, award-winning film and TV actor; Caterina Scorsone, beloved actress from the longest primetime TV drama on ABC, Grey’s Anatomy, and her castmates Alexis Floyd, Anthony Hill, and Niko Terho; Amanda Booth, model and actress; actor Shelley Hennig; Denver Broncos Cheerleaders Mikayla and Vika; Miss Colorado for America April Hawkins; and award-winning local NBC anchors Kim Christiansen and Tom Green, who will emcee the event.

The event will honor: Zaya Biel, the GLOBAL Ambassador who will be escorted down the runway by her amazing Auntie Jessica Biel; Woody Harrelson, and Sofia Sanchez, GLOBAL’s Quincy Jones Exceptional Advocacy Awardees. Zaya is a fiery five-year-old who lives in Cabo, Mexico with her mom, dad, and three-year-old brother Ziggy. Having overcome serious health challenges as an infant, Ambassador Zaya has blossomed into a vivacious young girl with a passion for dancing and zest for life. She loves spending time with her family, especially her little brother, and together they enjoy sunset walks, horseback riding, and yoga. She and her family will work closely with GLOBAL to make sure it raises both funds and awareness towards elongating life and improving health outcomes for children and adults with Down syndrome.

Academy Award-nominated actor Woody Harrelson and Ukrainian American actress, model, author, and self-advocate Sofia Sanchez will receive GLOBAL’s highest merit honor—the Quincy Jones Exceptional Advocacy Award.

Past recipients include Jamie Foxx, DeOndra Dixon, Madison Tevlin, Bobby Farrelly, Caterina Scorsone, Eric Dane, Jamie Brewer, Colin Farrell, Tim Harris, John Lynch, Zack Gottsagen, John C. McGinley, Karen Gaffney, Eva Longoria, Frank Stephens, Kyra Phillips, Marián Ávila and Beverly Johnson. 

“We are deeply grateful to our celebrities – some, such as Caterina Scorsone and John C. McGinley, have children with Down syndrome, and others, such as the brilliant cast of the film Champions, are also self-advocates. All of them understand that we have to fight for equity for our children and adults,” says GLOBAL President and CEO, Michelle Sie Whitten. “This event allows us to fund science and medical care that is elongating life and improving health outcomes. This is only possible with support from our amazing donors, Congressional and NIH Champions, passionate self-advocates and families, and our brilliant researchers and medical professionals.”

The evening will feature exclusive silent and live auction items, a sumptuous reception and sit-down dinner, and the inspiring fashion show featuring celebrities and 20+ beautiful and brilliant models with Down syndrome.

The Be Beautiful Be Yourself Fashion Show is the largest Down syndrome fundraiser in the world with over 1,400 attendees. Proceeds go to GLOBAL’s life-saving research and medical care through its affiliates – Linda Crnic Institute for Down Syndrome, Colorado University Alzheimer’s and Cognition Center, and Anna and John J. Sie Center for Down Syndrome, all on the Anschutz Medical Campus.

Various levels of Be Beautiful Be Yourself Fashion Show tickets, table sponsorships (including VIP levels), and model sponsorships are available at www.bebeautifulbeyourself.org.

For celebrity interviews, additional information, imagery, or to cover the Be Beautiful Be Yourself Fashion Show, please contact trishdavis0707@gmail.com, For more information on the Global Down Syndrome Foundation, please visit www.globaldownsyndrome.org.

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About Global Down Syndrome Foundation

The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL has donated more than $32 million to establish the first Down syndrome research institute supporting over 400 scientists and over 2,500 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and care. GLOBAL has a membership of over 100 Down syndrome organizations worldwide, and is part of a network of Affiliates – the Crnic Institute for Down Syndrome, the Sie Center for Down Syndrome, and the University of Colorado Alzheimer’s and Cognition Center – all on the Anschutz Medical Campus.

GLOBAL’s widely circulated medical publications include Global Medical Care Guidelines for Adults with Down Syndrome, Prenatal & Newborn Down Syndrome Information and the award-winning magazine Down Syndrome World^TM. GLOBAL also organizes the annual AcceptAbility Gala in Washington DC, and the annual Be Beautiful Be Yourself Fashion Show, the largest Down syndrome fundraiser in the world. Visit globaldownsyndrome.org and follow us on social media (Facebook & X: @GDSFoundation, Instagram: @globaldownsyndrome).

Groundbreaking Legislation for Transformative NIH Down Syndrome Research is a Legacy for GLOBAL Ambassador DeOndra Dixon, Representatives Rodgers, DeLauro, Cole, DeGette and Other Congressional Champions

DENVER – September 18, 2024—The Global Down Syndrome Foundation (GLOBAL) is proud to announce that the game-changing DeOndra Dixon INCLUDE Project Act (H.R. 7406) passed the U.S. House of Representatives by voice vote.

This bill is named in honor of the life and legacy of DeOndra Dixon, beloved GLOBAL Ambassador and inspiration behind GLOBAL’s highest honor, the Quincy Jones Exceptional Advocacy Award. DeOndra keynoted at conferences around the country and the world, and was a fixture at GLOBAL events along with her big brother Jamie Foxx as well as her loving extended family. She was a talented dancer and musician who performed at the 52^nd Grammy Awards.

The DeOndra Dixon INCLUDE Project Act was introduced by House Energy & Commerce Committee Chair, Representative Cathy McMorris Rodgers (R-WA) and is co-sponsored by Representatives Rosa DeLauro (D-CT), Tom Cole (R-OK), Diana DeGette (D-CO), Pete Stauber (R-MN), Eleanor Holmes Norton (D-DC), David Trone (R-MD), and Frank Pallone (D-NJ). GLOBAL urges the Senate to pass their version of the DeOndra Dixon INCLUDE Project Act (S. 3981) and to sign it into law this year.

“GLOBAL is truly overwhelmed by the strong bipartisan support for the DeOndra Dixon INCLUDE Project Act that will formally authorize the INCLUDE Project at the NIH for five years,” says Michelle Sie Whitten, President and CEO of the Global Down Syndrome Foundation. “We couldn’t have come this far without the leadership of Chair Cathy McMorris Rodgers and many other key Congressional champions. We also owe so much to our unwavering self-advocates with Down syndrome and their families! GLOBAL continues to work with our Senate champions, Senators John Hickenlooper, Jerry Moran, and Cory Booker to build bipartisan support so this important legislation becomes law in 2024.”

“This bipartisan legislation will support research into Down syndrome, which has been dramatically underfunded despite affecting one in every 700 babies,” said Rodgers. “Better understanding individuals with this disability–and truly valuing the unique gifts they possess–will help unleash their potential and benefit every American who knows someone battling other diseases like cancer and Alzheimer’s. As the proud mom of a child with Down syndrome, it has been deeply rewarding to partner with Michelle and her team at GLOBAL. Moving forward, I remain committed to working with my colleagues on both sides of the aisle to see this bill signed into law.”

GLOBAL had advocated for a trans-National Institutes of Health (NIH) Down syndrome research program since its inception in 2009. In 2017, three GLOBAL senior leaders, including board member, Frank Stephens, testified at the hallmark House Appropriations Subcommittee on Labor, Health, and Human Services, Education, and Related Agencies Hearing: Down Syndrome: Update on the State of the Science and Potential for Discoveries Across Other Major Diseases. Frank’s testimony went viral that evening with 1 million views and today has over 200 million views. Shortly after the hearing, GLOBAL’s long-time advocacy goal was fulfilled and the NIH established the INCLUDE (Investigation of Co-occurring conditions across the Lifespan to Understand Down syndrome) Project.

Since the INCLUDE Project was established in the FY2018 Labor-HHS appropriations bill, the program has funded 556 unique awards within 18 of the 27 NIH institutes. Eleven of these institutes did not participate in Down syndrome research prior to this program. The INCLUDE Project has also supported the development of the clinical trial infrastructure. Prior to the program, there were only two NIH clinical trials focused on people with Down syndrome. In just six years, the INCLUDE Project is funding thirteen promising clinical trials with possible immediate or short-term impact for people with Down syndrome.

“DSA of Central Oklahoma is a long-time supporter of the Global Down Syndrome Foundation, and their government advocacy work that resulted in the establishment of the trans-NIH Down syndrome research program called the INCLUDE Project,” says Sarah Soell, Executive Director of the Down Syndrome Association of Central Oklahoma. “We know first-hand from our families that the increased research funding is making a difference. We see real progress in the treatment of the many co-occurring conditions that we see in people with Down syndrome, including autoimmune conditions, regression disorder, sleep apnea, Alzheimer’s and more. Given the nearly twenty years of Down syndrome being the least funded genetic condition at the NIH prior to the INCLUDE Project, it is so important to pass this bill at the $250 million cap.”

Formally authorizing the DeOndra Dixon INCLUDE Project Act beyond an annual congressional directive will ensure that people with Down syndrome are not left behind when it comes to participating in clinical trials; it will improve health outcomes and improve their quality of life; and it will send a strong message that our society values and wants to invest in the future of our children and adults with Down syndrome and their families.

Please contact your U.S. Senators and urge them to cosponsor the DeOndra Dixon INCLUDE Project Act (S. 3981).

GLOBAL Affiliate, the Crnic Institute for Down Syndrome, has five clinical trials specifically for patients with Down syndrome: Two in Alzheimer’s and Down Syndrome, one in Down Syndrome Regression Disorder, and two in autoimmunity and inflammation.

To read about the impactful research that the INCLUDE Project has funded visit the NIH Down Syndrome Coordinating Center Website.

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About Global Down Syndrome Foundation

The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL has donated more than $32 million to establish the first Down syndrome research institute supporting over 400 scientists and over 2,500 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and care. GLOBAL has a membership of over 100 Down syndrome organizations worldwide, and is part of a network of Affiliates – the Crnic Institute for Down Syndrome, the Sie Center for Down Syndrome, and the University of Colorado Alzheimer’s and Cognition Center – all on the Anschutz Medical Campus.

GLOBAL’s widely circulated medical publications include Global Medical Care Guidelines for Adults with Down Syndrome, Prenatal & Newborn Down Syndrome Information and the award-winning magazine Down Syndrome World^TM . GLOBAL also organizes the annual AcceptAbility Gala in Washington DC, and the annual Be Beautiful Be Yourself Fashion Show, the largest Down syndrome fundraiser in the world. Visit globaldownsyndrome.org and follow us on social media (Facebook & Twitter: @GDSFoundation, Instagram: @globaldownsyndrome).

Renowned neurologist Dr. Nicole Baumer takes the helm of the Sie Center for Down Syndrome with a focus on expanding research

Denver – September 5, 2024  – The Global Down Syndrome Foundation (GLOBAL) and Children’s Hospital Colorado (Children’s Colorado) are pleased to announce the appointment of Nicole Baumer, MD, MEd, as the new Director of the Anna and John J. Sie Center for Down Syndrome (Sie Center) at Children’s Colorado, the largest pediatric medical care center for patients with Down syndrome in the United States. The Sie Center, an Affiliate of GLOBAL, provides specialty Down syndrome care to over 2,500 patients from 32 states, Puerto Rico, and 11 countries. Dr. Baumer will also serve as an associate professor in the Department of Pediatrics at the University of Colorado School of Medicine.

“The future of the Sie Center is bright and we are excited to expand our world-class research and knowledge, providing even better care to our patients and their families,” says Jena Hausmann, president and CEO of Children’s Colorado. “Through collaboration and research, we hope to transform medical and therapeutic intervention for children with Down syndrome, and lead the way for a promising path ahead.”

At the Sie Center, Dr. Baumer is responsible for managing and growing a multi-disciplinary team including Dr. Karen Kelminson, recently promoted to Medical Director overseeing clinical care, Patricia C. Winders, Director of Therapies, and Dee Daniels, RN, MSN, CPNP, Program Director. Dr. Baumer is also responsible for establishing the Sie Center as a national and international leader in clinical research.

“Dr. Baumer is exactly what the Sie Center needs during this Down syndrome research renaissance driven by GLOBAL’s government advocacy,” says Michelle Sie Whitten, president & CEO of GLOBAL. “We were so fortunate and grateful to have had the brilliant Down syndrome expert Dr. Francis Hickey for over a decade growing our affiliate into the largest pediatric Down syndrome center in the U.S. Now Dr. Baumer can build upon that and realize her dream and our goal of elongating life and significantly improving health outcomes.”

“I am thrilled to join the incredible team at Children’s Hospital Colorado,” says Dr. Nicole Baumer. “My vision is to develop a world-class clinical and research center for Down syndrome at Children’s Hospital Colorado. As Director of the Sie Center, my focus will be on expanding clinical care, advancing clinical research, and integrating clinical, research, and advocacy efforts. It is such an honor to work with and have the support of GLOBAL, the Crnic Institute and our other affiliates.”

As a nationally recognized physician-scientist, Dr. Baumer specializes in the treatment of individuals with Down syndrome, autism, ADHD, and other neurobehavioral disorders. Her research includes the characterization and diagnosis of neurodevelopmental profiles in Down syndrome, and investigation of educational, behavioral, and medical interventions in neurodevelopmental disorders. She currently holds several grants from the National Institutes of Health (NIH) INCLUDE Project, including one investigating early developmental and medical profiles in Down syndrome, and one investigating mobility interventions  for infants with Down syndrome.

“We are delighted to have Dr. Baumer in Colorado. She provides a wealth of clinical experience, strong research qualifications, and superb connectivity with the Down syndrome community” says Dr. Joaquin Espinosa, executive director of the Linda Crnic Institute for Down Syndrome. “We look forward to many collaborations to advance biomedical research in service of people with Down syndrome.”

Prior to joining the Sie Center, Dr. Baumer most recently served as a child neurologist and neurodevelopmental disabilities specialist at Boston Children’s Hospital and as an Assistant Professor in neurology at Harvard Medical School. At Boston Children’s Hospital, Dr. Baumer directed and significantly grew their multidisciplinary clinical and research Down Syndrome Program.

“We are grateful to the shared commitment of the Anna and John J. Sie Foundation and GLOBAL to improve the lives of people who have Down syndrome,” says Jennifer Darling, president and CEO of the Children’s Hospital Colorado Foundation. “Their partnership and dedication enabled Children’s Colorado to recruit a top leader in the field of Down syndrome who will ensure exceptional care and support for patients and their families.” Dr. Baumer’s appointment as the Director of the Sie Center strengthens the joint mission and collaborative network between GLOBAL Affiliates – GLOBAL, the Sie Center, the Linda Crnic Institute for Down Syndrome, the Alzheimer’s and Cognition Center – all on the Anschutz Medical Campus. A multi-year gift of $4.6 million from GLOBAL and the Anna and John J. Sie Foundation will support Dr. Baumer’s vision to provide exceptional care to the Sie Center’s patients with Down syndrome while leading research that will translate into measurably improved health outcomes for a larger and more diverse Down syndrome patient population. This brings total support for the Sie Center to over $10 million, underscoring GLOBAL’s commitment to advancing Down syndrome research and care.

Dr. Baumer has more than 15 years of health care leadership experience. She currently serves as president of the Down Syndrome Medical Interest Group-USA (DSMIG-USA), Vice President of the board of the National Down Syndrome Congress, member of the Scientific and Medical Advisory Board of GLOBAL, and she represents DSMIG on the National Institute of Child Health and Human Development Down Syndrome Consortium. Dr. Baumer has a sister with Down syndrome and brings a wealth of lifelong personal experience to her leadership role at the Sie Center.

Dr. Baumer earned a medical degree from Harvard Medical School, completed her pediatrics training at Massachusetts General Hospital, and then training in neurodevelopmental disabilities at Boston Children’s Hospital. Additionally, she holds a master’s degree in education from Harvard Graduate School of Education and was a fellow in the Leadership Education in Neurodevelopmental and Related Disorders program at Boston Children’s Hospital.

To learn more about Global Down Syndrome Foundation, visit www.globaldownsyndrome.org

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About Global Down Syndrome Foundation

The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL has donated more than $32 million to establish the first Down syndrome research institute supporting over 400 scientists and over 2,500 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and care. GLOBAL has a membership of over 100 Down syndrome organizations worldwide, and is part of a network of Affiliates – the Crnic Institute for Down Syndrome, the Sie Center for Down Syndrome, and the University of Colorado Alzheimer’s and Cognition Center – all on the Anschutz Medical Campus.

GLOBAL’s widely circulated medical publications include Global Medical Care Guidelines for Adults with Down Syndrome, Prenatal & Newborn Down Syndrome Information, and the award-winning magazine Down Syndrome World TM. GLOBAL also organizes the Be Beautiful Be Yourself Fashion Show, the largest Down syndrome fundraiser in the world. Visit globaldownsyndrome.org and follow us on social media Facebook, X and Instagram.

About Children’s Hospital Colorado

Children’s Hospital Colorado is one of the nation’s leading and most expansive nonprofit pediatric healthcare systems with a mission to improve the health of children through patient care, education, research and advocacy. Founded in 1908 and ranked among the best children’s hospitals in the nation as recognized by U.S. News & World Report, Children’s Colorado has established itself as a pioneer in the discovery of innovative and groundbreaking treatments that are shaping the future of pediatric healthcare worldwide. Children’s Colorado offers a full spectrum of family-centered care at its urgent, emergency and specialty care locations throughout Colorado, including an academic medical center on the Anschutz Medical Campus in Aurora, hospitals in Colorado Springs, Highlands Ranch and Broomfield, and outreach clinics across the region. For more information, visit www.childrenscolorado.org or connect with us on Facebook, Instagram and YouTube.

This year’s GLOBAL Education & Employment Awards will fund 20  programs – from medical outreach initiatives to underwriting staff with Down syndrome

Denver – August 26, 2024 – The Global Down Syndrome Foundation (GLOBAL) is thrilled to announce that the total cumulative giving through its GLOBAL Education and Employment Awards program has reached $1.2 million. Since the program’s inception in 2011, the awards have funded over 337 programs supporting over 24,500 self-advocates, families, and professionals.

This year’s GLOBAL Education and Employment Awards will provide $91,000 underwriting twenty impactful programs to Down syndrome organizations in the following states and countries: Alabama, Arizona, Delaware, Florida, Indiana, Kentucky, Louisiana, Michigan, Minnesota, Missouri, New York, North Carolina, Ohio, Oklahoma, Tennessee, Albania, and Uganda.

“At GLOBAL, our commitment to enhancing the lives of individuals with Down syndrome drives everything we do,” says Michelle Sie Whitten, President & CEO of GLOBAL. “Through these awards, we are empowering Down syndrome organizations to launch and sustain medical programs and to create meaningful job opportunities. Together, we are fostering greater inclusion and advancing our mission to improve health outcomes and quality of life for the amazing people with Down syndrome we serve.”

David Tolleson, GLOBAL Vice President, Strategic Alliances agrees, “We are so inspired by our local Down syndrome organizations on the front line of service, positively impacting the health, education, and meaningful inclusion of the children and adults in their community. It’s our honor to provide this distinguished benefit to our GLOBAL organization members and support their work as a national partner.”

2024 GLOBAL Education Awards

This year, 11 exceptional programs dedicated to advancing medical care, mental health support, and educational opportunities for people with Down syndrome received GLOBAL Education Awards. The funded programs span across the United States and Albania, impacting over 6,510 professionals, family members, and self-advocates.

“Down Syndrome Indiana is so grateful to receive this GLOBAL Education Award!” says Macy Pohl, Executive Director of Down Syndrome Indiana. “The award will truly be life-changing. We are enthusiastic about starting the Understanding the Diagnosis: Building Bridges for Families and Providers initiative, which will no doubt have a deeply positive impact on our self-advocates, families, and medical providers in Indiana.”

The 2024 GLOBAL Education Award recipients and their funded programs are (in alphabetical order):

Down Syndrome Albania Foundation (Tirana, Albania): The conference “Reach for Health II- Support for adults with Down Syndrome” will educate healthcare professionals on dual diagnoses using resources like the GLOBAL Adult Guideline.

Down Syndrome Association of Central Florida (Winter Park, FL): Community Care: Medical Outreach and Care Project will support the Smile with Stella Tremonti Lifespan Down Syndrome Clinic at AdventHealth and provide resources to local hospitals and families.

Down Syndrome Association of Memphis and the Mid-South (Cordova, TN): Their Medical Outreach program will provide informational prenatal resources to genetic counselors and expecting families.

Down Syndrome Association of Middle Tennessee (Hermitage, TN): EMPOWER ME is a 24-week program for adults with Down syndrome to help them navigate relationships, a healthy body, employment, and social engagement.

Down Syndrome Indiana (Indianapolis, IN): Funding for Understanding the Diagnosis: Building Bridges for Families and Providers will help translate their current resources into Haitian Creole, Arabic, and Burmese, which have been requested in their community.

Buddy Up for Life, Inc (New Albany, OH): Buddy Up Pickleball and Buddy Up Cooking are health and wellness programs that will get self-advocates moving on the pickleball court and cooking healthy in the kitchen.

Down Syndrome Alabama (Hoover, AL): LACE UP for Down Syndrome is a running group that will train self-advocates for five months, culminating in a 5K run.

Down Syndrome Association of Greater St. Louis (Brentwood, MO): Treating Individuals with Down Syndrome: Outreach Program for Medical Students, Residents Doctors, and Providers is a series of videos featuring healthcare professionals and self-advocates that will educate professionals in training

Down Syndrome Association of Northeast Ohio (Independence, OH): DSANEO Community of Care Medical Outreach for All Ages and Stages will increase access to information and resources for low-income, Black, and Hispanic families raising individuals with Down syndrome.

Sharing Down Syndrome Arizona (Mesa, AZ): Ambassadors with Down Syndrome Educational Program for 2024-2025 will offer a paid opportunity to people with Down syndrome to speak to medical students at Mayo Clinic and Arizona State University several times per year.

Upside Downs (Thibodaux, LA): iCanBike and iCanSwim will offer specialized instruction and adaptive equipment to individuals with Down syndrome.

2024 GLOBAL Employment Awards

This year, 9 exceptional employment proposals were funded by the GLOBAL Employment Awards. These awards support programs that either employ people with Down syndrome or are led by them, fostering greater community inclusion and job opportunities.

“We are extremely excited to receive a GLOBAL Employment Initiative Award!” says Katie Hollis, Executive Director of the Down Syndrome Association of West Michigan. “With this funding, we plan to grow our Self-Advocate Level 2 Internship program and set a model in our community for what adults with Down syndrome can do when you harness their passions and potential.”

The 2024 GLOBAL Employment Award recipients and their funded programs are (in alphabetical order):

Angel’s Center for Children with Special Needs (Kampala, Uganda): Funding will support two employees with Down syndrome to work 24 hours per week along with their health insurance.

Down Syndrome Association of Central Kentucky (Lexington, KY): The Next Steps: Learning for Life program will provide general education and vocational skills to better prepare students for the workforce and for independent life.

Down Syndrome Association of Central Oklahoma (Oklahoma City, OK): Funding will support two people with Down syndrome to be office aides while receiving pre-employment training services through the organization’s Employment Program.

Down Syndrome Association of Delaware (Middletown, DE): The award will support an outreach program and two self-advocates to visit new babies and provide information to families at the local children’s hospital.

Down Syndrome Association of West Michigan (Grand Rapids, MI): With this funding, self-advocate interns will learn how to transition from a job to a career by refining experience and building confidence in their fields.

Jack’s Basket (Arden Hills, MN): Funding will help transition a volunteer with Down syndrome to a paid position helping with office tasks.

Jonathan Center (Tirane, Albania): The Hire to Understand and Grow initiative, supported with an award, will prepare job coaches to provide vocational training to people with Down syndrome.

North Carolina Down Syndrome Alliance (Raleigh, NC): Funding will provide a Family Support Assistant for the weekly T21 club that plans activities for teens and adults with Down syndrome.

Yachad JUFNY (New York, NY): The Stepping Up Employment Opportunities for Adults Living with Down Syndrome in New York program will teach participants about employment opportunities and GLOBAL is proud to support these vital initiatives and remains dedicated to advancing the health and inclusion of individuals with Down syndrome worldwide.

To learn more about the GLOBAL membership awards, visit https://www.globaldownsyndrome.org/global-awards/

To learn more about individual and organization GLOBAL memberships, visit https://www.globaldownsyndrome.org/global-membership/

To learn more about Global Down Syndrome Foundation, visit www.globaldownsyndrome.org

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About Global Down Syndrome Foundation

The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL has donated more than $32 million to establish the first Down syndrome research institute supporting over 400 scientists and over 2,500 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and care. GLOBAL has a membership of over 100 Down syndrome organizations worldwide, and is part of a network of Affiliates – the Crnic Institute for Down Syndrome, the Sie Center for Down Syndrome, and the University of Colorado Alzheimer’s and Cognition Center – all on the Anschutz Medical Campus.

GLOBAL’s widely circulated medical publications include Global Medical Care Guidelines for Adults with Down Syndrome, Prenatal & Newborn Down Syndrome Information, and the award-winning magazine Down Syndrome World TM. GLOBAL also organizes the Be Beautiful Be Yourself Fashion Show, the largest Down syndrome fundraiser in the world. Visit globaldownsyndrome.org and follow us on social media Facebook, X and Instagram.

Denver, Aug. 15, 2024 (GLOBE NEWSWIRE) — A groundbreaking new study published in Cell Reports by researchers from the Linda Crnic Institute for Down Syndrome (Crnic Institute) at the University of Colorado Anschutz Medical Campus reports important differences in oxygen physiology and red blood cell function in individuals with Down syndrome. The study is part of the ongoing Human Trisome Project, a large and detailed cohort study of the population with Down syndrome, including deep annotation of clinical data, the largest biobank for the study of Down syndrome to date, and multi-omics datasets.

The Crnic Institute team first analyzed hundreds of blood samples to identify physiological differences between research participants with Down syndrome versus controls from the general population. They observed that triplication of chromosome 21, or trisomy 21, the chromosomal abnormality that causes Down syndrome, leads to a physiological state reminiscent of hypoxia, or low oxygen. They identified major changes in gene expression indicative of low oxygen availability, including induction of many hypoxia-inducible genes and proteins, as well as increased levels of factors involved in the synthesis of heme, the molecule that transports oxygen inside red blood cells.

“These results reveal that hypoxia and hypoxic signaling should be front and center when we talk about the health of people with Down syndrome,” says Dr. Joaquín Espinosa, executive director of the Crnic Institute, professor of Pharmacology, Principal Investigator of the Human Trisome Project, and one of the senior authors of the paper. “Given the critical role of oxygen physiology in health and disease, we need to understand the causes and consequences of hypoxia in Down syndrome, which could lead to effective interventions to improve oxygen availability in this deserving population.”

“The results are remarkable, it is safe to say that the blood of people with Down syndrome looks like that of someone who was quickly transported to a high altitude or who was injected with erythropoietin (EPO), the master regulator of erythropoiesis, the process of new red blood cell formation” explains Dr. Micah Donovan, lead author of the paper.  “Although it has been known for many years that people with Down syndrome have fewer and bigger red blood cells, this is the first demonstration that they overproduce EPO and that they are undergoing stress erythropoiesis, a phenomenon whereby the liver and the spleen need to start producing red blood cells to supplement those arising from the bone marrow.”

The team discovered that these phenomena are also observed in a mouse model of Down syndrome, thus reinforcing the idea that these important physiological changes arise from triplication of genetic material and overexpression of specific genes.

“The fact that hypoxic signaling and stress erythropoiesis are conserved in the mouse model paves the way for mechanistic investigations that could identify the genes involved and reveal therapeutic interventions to improve oxygen physiology in Down syndrome,” explains Dr. Kelly Sullivan, associate professor of pediatrics, Director of the Experimental Models Program at the Crnic Institute, and co-author in the study.

The study team also investigated whether the elevated hypoxic signaling and associated stress erythropoiesis was tied to the heightened inflammatory state characteristic of Down syndrome. Although individuals with the stronger hypoxic signatures show more pronounced dysregulation of the immune system and elevated markers of inflammation, their results indicate that lowering inflammation does not suffice to reverse the hypoxic state.

“We will need a lot more data to understand what is causing the hypoxic state and its impacts on the health of people with Down syndrome,” says Dr. Matthew Galbraith, assistant research professor of pharmacology, Director of the Data Sciences Program at the Crnic Institute, and one of the senior authors of the paper. “The hypoxic state could be caused by obstructive sleep apnea (which is common in Down syndrome), cardiopulmonary malfunction, or even perhaps defects in red blood cell function. We are very excited about several ongoing clinical trials funded by the NIH INCLUDE Project for obstructive sleep apnea in Down syndrome, which we believe will be very informative.”

The Crnic Institute study team is already planning several follow up studies, with the explicit goal of illuminating strategies to improve oxygen physiology in the population with Down syndrome.

“This is another huge breakthrough from our scientists at the Crnic Institute that we hope will lead to additional treatments quickly,” says Michelle Sie Whitten, president & CEO of Global Down Syndrome Foundation, a partner and an Affiliate organization of the Crnic Institute. “As a mother of a brilliant 21-year-old with Down syndrome I am eager to understand how to normalize oxygen physiology safely and how that may improve the lives of millions of people with Down syndrome across the world. We are proud that GLOBAL’s advocacy work with Congress and with the National Institutes of Health (NIH) has led to the establishment of the trans-NIH Down syndrome funding project, INCLUDE, that underwrites this and numerous other groundbreaking studies and clinical trials.”

About the Linda Crnic Institute for Down Syndrome

The Linda Crnic Institute for Down Syndrome is one of the only academic research centers fully devoted to improving the lives of people with Down syndrome through advanced biomedical research, spanning from basic science to translational and clinical investigations. Founded through the generous support and partnership of the Global Down Syndrome Foundation, the Anna and John J. Sie Foundation, and the University of Colorado, the Crnic Institute supports a thriving Down syndrome research program involving over 50 research teams across four campuses on the Colorado Front Range. To learn more, visit www.crnicinstitute.org or follow us on Facebook and Twitter @CrnicInstitute.

About the University of Colorado Anschutz Medical Campus

The University of Colorado Anschutz Medical Campus is a world-class medical destination at the forefront of transformative science, medicine, education and patient care. The campus encompasses the University of Colorado health professional schools, more than 60 centers and institutes, and two nationally ranked independent hospitals – UCHealth University of Colorado Hospital and Children’s Hospital Colorado – which see more than 2 million adult and pediatric patient visits yearly. Innovative, interconnected and highly collaborative, the University of Colorado Anschutz Medical Campus delivers life-changing treatments, patient care and professional training and conducts world-renowned research fueled by $705 million in research grants. For more information, visit www.cuanschutz.edu.

About Global Down Syndrome Foundation

The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL has donated more than $32 million to establish the first Down syndrome research institute supporting over 400 scientists and over 2,500 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and care. GLOBAL has a membership of over 100 Down syndrome organizations worldwide, and is part of a network of Affiliates – the Crnic Institute for Down Syndrome, the Sie Center for Down Syndrome, and the University of Colorado Alzheimer’s and Cognition Center – all on the Anschutz Medical Campus.

GLOBAL’s widely circulated medical publications include Global Medical Care Guidelines for Adults with Down Syndrome, Prenatal & Newborn Down Syndrome Information, and the award-winning magazine Down Syndrome World TM. GLOBAL also organizes the Be Beautiful Be Yourself Fashion Show, the largest Down syndrome fundraiser in the world. Visit globaldownsyndrome.org and follow us on social media Facebook, X and Instagram.

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Denver, Aug. 13, 2024 (GLOBE NEWSWIRE) — The Global Down Syndrome Foundation (GLOBAL) is proud to support a new study published in eLIFE by researchers from its partner and Affiliate, the Linda Crnic Institute for Down Syndrome (Crnic Institute) at the University of Colorado Anschutz Medical Campus, that reports the initial results of a first-in-kind clinical trial testing the safety and efficacy of a JAK inhibitor to decrease the burden of autoimmune conditions in people with Down syndrome. The clinical trial, which is funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases, is part of a portfolio of new clinical trials supported by the National Institutes of Health INCLUDE Project.

Drawing upon their 2016 discovery that the interferon response is constantly activated in people with Down syndrome, the team designed the trial to focus on the autoimmune and inflammatory skin conditions that are very common in people with Down syndrome including alopecia areata, psoriasis, atopic dermatitis, and hidradenitis suppurativa, and employed the JAK inhibitor tofacitinib (marketed as XELJANZ^®, Pfizer). The study also monitored effects on co-occurring autoimmune conditions, such as autoimmune thyroid disease, celiac disease, and arthritis.

“Individuals with Down syndrome are at a high risk of developing autoimmune skin conditions, which are often hard to treat and cause significant discomfort and decrease their quality of life,” explains Dr. Emily Gurnee, assistant professor of dermatology, one of the dermatologists involved in the study, and a principal investigator in the trial. “Limited data exist to guide conversations about treatment options for skin conditions common to individuals with Down syndrome. The findings from scientists at the Crnic Institute support the notion that JAK inhibitors are a valuable treatment not only for skin conditions but may benefit other autoimmune conditions prevalent in this population.”

The study team observed important improvements in skin pathology, with the most striking results observed for those affected by alopecia areata, as well as improvements in arthritis and decreased biomarkers of autoimmune thyroid disease. Most study participants chose to remain on the medicine, often through off-label prescriptions, after completion of trial activities.

“Most importantly, we observed that major inflammatory markers elevated in Down syndrome that are known to cause autoimmunity were brought down to the normal range with this medicine, indicating that the immune system is being calmed down by this JAK inhibitor, while preserving strong immune function,” explains Dr. Joaquín Espinosa, executive director of the Crnic Institute, professor of pharmacology, and one of the principal investigators in the clinical trial. “More data will be needed to define the safety profile of JAK inhibitors in Down syndrome, and we look forward to the completion of the trial and analysis of the full dataset.”

The study also reports the deepest characterization of the immune system dysregulation characteristic of Down syndrome to date through analysis of clinical data and biospecimens collected by the ongoing Human Trisome Project study.

The Crnic Institute team analyzed clinical data and blood samples to characterize the pattern of autoimmune conditions and accompanying inflammatory processes in hundreds of research participants in the Human Trisome Project using so called multi-omics technologies. They observed that triplication of chromosome 21, or trisomy 21, the genetic abnormality underlying Down syndrome, leads to rapid onset of diverse autoimmune conditions during childhood, along with increased levels of many inflammatory factors and strong dysregulation of multiple immune cell types.

“One key observation is that elevation of multiple inflammatory markers and dysregulation of all branches of the immune system occurs from a very early age, even before any clinical manifestations of autoimmunity,” says Dr. Matthew Galbraith, assistant research professor of pharmacology, director of the Data Sciences Program of the Crnic Institute and co-author of the study. “This points to a constitutive state of immune dysregulation triggered by the extra chromosome that eventually leads to the appearance of multiple autoimmune conditions, with variations in timing and severity among individuals.”

“Since 2016 we have been hypothesizing that the class of medicines known as JAK inhibitors will provide therapeutic benefits in this population,” explains Dr. Angela Rachubinski, assistant research professor of pediatrics, director of the Clinical and Translational Sciences Program at the Crnic Institute, lead author of the paper, and one of the principal investigators in the trial. “Although JAK inhibitors have been approved for a range of autoimmune and inflammatory conditions in the general population, this clinical trial, which started activities back in 2020, provides the first systematic investigation of the effects of a JAK inhibitor in people with Down syndrome.”

The Crnic Institute study team is already overseeing a second trial testing the safety and efficacy of the JAK inhibitor relative to other medicines for treating the condition known as Down Syndrome Regression Disorder, and a third trial focused on children with Down syndrome is expected to start recruitment in late 2024.

“We are very grateful to the scientists and physicians at the Crnic Institute for their transformative research that is already translating into improved medical care and health outcomes for the amazing people with Down syndrome who we serve,” says Michelle Sie Whitten, president & CEO of GLOBAL. “We are proud that GLOBAL’s advocacy work with Congress and with the National Institutes of Health (NIH) has led to the establishment of the trans-NIH Down syndrome funding project, INCLUDE, that underwrites this and numerous other groundbreaking studies and clinical trials.”

About Global Down Syndrome Foundation

The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL has donated more than $32 million to establish the first Down syndrome research institute supporting over 400 scientists and over 2,500 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and care. GLOBAL has a membership of over 100 Down syndrome organizations worldwide, and is part of a network of Affiliates – the Crnic Institute for Down Syndrome, the Sie Center for Down Syndrome, and the University of Colorado Alzheimer’s and Cognition Center – all on the Anschutz Medical Campus.

GLOBAL’s widely circulated medical publications include Global Medical Care Guidelines for Adults with Down Syndrome, Prenatal & Newborn Down Syndrome Information, and the award-winning magazine Down Syndrome World TM. GLOBAL also organizes the Be Beautiful Be Yourself Fashion Show, the largest Down syndrome fundraiser in the world. Visit globaldownsyndrome.org and follow us on social media Facebook, X and Instagram.

About the Linda Crnic Institute for Down Syndrome

The Linda Crnic Institute for Down Syndrome is one of the only academic research centers fully devoted to improving the lives of people with Down syndrome through advanced biomedical research, spanning from basic science to translational and clinical investigations. Founded through the generous support and partnership of the Global Down Syndrome Foundation, the Anna and John J. Sie Foundation, and the University of Colorado, the Crnic Institute supports a thriving Down syndrome research program involving over 50 research teams across four campuses on the Colorado Front Range. To learn more, visit www.crnicinstitute.org or follow us on Facebook and Twitter @CrnicInstitute.

About the University of Colorado Anschutz Medical Campus

The University of Colorado Anschutz Medical Campus is a world-class medical destination at the forefront of transformative science, medicine, education and patient care. The campus encompasses the University of Colorado health professional schools, more than 60 centers and institutes, and two nationally ranked independent hospitals – UCHealth University of Colorado Hospital and Children’s Hospital Colorado – which see more than 2 million adult and pediatric patient visits yearly. Innovative, interconnected and highly collaborative, the University of Colorado Anschutz Medical Campus delivers life-changing treatments, patient care and professional training and conducts world-renowned research fueled by $705 million in research grants. For more information, visit www.cuanschutz.edu.

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Denver, Aug 07, 2024 (GLOBE NEWSWIRE) — Global Down Syndrome Foundation (GLOBAL) is proud to support a new study published in Nature Communications by researchers at its partner and Affiliate, the Linda Crnic Institute for Down Syndrome (Crnic Institute) at the University of Colorado Anschutz Medical Campus. The breakthrough research,  part of the ongoing Crnic Institute Human Trisome Project, identifies distinct molecular and immune subtypes across individuals with Down syndrome, offering new insights that could lead to personalized medicine approaches for the clinical management of this condition.”

The Crnic Institute team analyzed the expression of genes encoded on chromosome 21, which is triplicated in those with Down syndrome, across hundreds of research participants in the Human Trisome Project, and identified unique patterns of gene overexpression among individuals. By employing advanced machine learning algorithms, researchers matched the variable chromosome 21 gene overexpression patterns to three distinct molecular and immune subgroups of individuals with Down syndrome. This is the first time that molecular profiles derived from blood samples are used to stratify the population with Down syndrome into distinct subsets.

“There is remarkable variety in terms of developmental and clinical features in people with Down syndrome, and we strongly believe that this diversity is the key to making discoveries that will improve health outcomes and increase life expectancy in this deserving population,” says Dr. Joaquin Espinosa, executive director of the Crnic Institute and director of the Human Trisome Project.

“These discoveries mark a transformative step toward developing better medical care for individuals with Down syndrome, says Crnic Institute Research Associate, Micah Donovan, PhD, one of the leading data analysts. “This allows us to shift from a generalized strategy to a more tailored, precise therapies approach that addresses the unique manifestations of co-occurring conditions in Down syndrome.”

The different molecular signatures in immune function, cellular signaling and metabolism provide basic and clinical researchers with a roadmap to pursue tailored diagnostics and therapeutic approaches in this population.

“This study also highlights the power of advanced computational approaches for the analysis of large-scale datasets, explains Dr. Matthew Galbraith, PhD, director of the Data Sciences Program at the Crnic Institute and a senior author of the publication. “Enabled by the datasets generated by the Human Trisome Project, it is now possible to envision a personalized medicine approach for the study of Down syndrome, similar to what has been achieved for other medical conditions.”

The Crnic Institute researchers hope that these insights will lead to better clinical outcomes and improved quality of life for individuals with Down syndrome. This leading-edge work not only deepens our understanding of Down syndrome, but also exemplifies the potential for more precise diagnosis and treatment of complex medical conditions.

“We are beyond grateful to the Crnic Institute for their game-changing research that is already translating into improved medical care and health outcomes for the amazing people with Down syndrome who we serve,” says Michelle Sie Whitten, president & CEO of Global Down Syndrome Foundation, a partner and an Affiliate organization of the Crnic Institute. “We are proud that GLOBAL’s advocacy work with Congress and with NIH has led to the establishment of the trans-NIH Down syndrome funding project, INCLUDE, that underwrites this and numerous other groundbreaking studies and clinical trials.”

Down syndrome, also known as trisomy 21, is caused by an extra copy of chromosome 21 and is associated with differences in neurodevelopment and a distinct clinical risk profile. Individuals with Down syndrome have a significantly decreased risk of some medical conditions, such as most solid cancers and hypertension, but they have a significantly higher risk of others, such as autoimmune disorders and Alzheimer’s disease. However, the variability in how these traits manifest in individuals with Down syndrome has long perplexed medical and research communities.

About Global Down Syndrome Foundation

The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL has donated more than $32 million to establish the first Down syndrome research institute supporting over 400 scientists and over 2,500 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and care. GLOBAL has a membership of over 100 Down syndrome organizations worldwide, and is part of a network of Affiliates – the Crnic Institute for Down Syndrome, the Sie Center for Down Syndrome, and the University of Colorado Alzheimer’s and Cognition Center – all on the Anschutz Medical Campus.

GLOBAL’s widely circulated medical publications include Global Medical Care Guidelines for Adults with Down Syndrome, Prenatal & Newborn Down Syndrome Information, and the award-winning magazine Down Syndrome World TM. GLOBAL also organizes the Be Beautiful Be Yourself Fashion Show, the largest Down syndrome fundraiser in the world. Visit globaldownsyndrome.org and follow us on social media Facebook, X and Instagram.

About the Linda Crnic Institute for Down Syndrome

The Linda Crnic Institute for Down Syndrome is one of the only academic research centers fully devoted to improving the lives of people with Down syndrome through advanced biomedical research, spanning from basic science to translational and clinical investigations. Founded through the generous support and partnership of the Global Down Syndrome Foundation, the Anna and John J. Sie Foundation, and the University of Colorado, the Crnic Institute supports a thriving Down syndrome research program involving over 50 research teams across four campuses on the Colorado Front Range. To learn more, visit www.crnicinstitute.org or follow us on Facebook and Twitter @CrnicInstitute.

About the University of Colorado Anschutz Medical Campus

The University of Colorado Anschutz Medical Campus is a world-class medical destination at the forefront of transformative science, medicine, education and patient care. The campus encompasses the University of Colorado health professional schools, more than 60 centers and institutes, and two nationally ranked independent hospitals – UCHealth University of Colorado Hospital and Children’s Hospital Colorado – which see more than 2 million adult and pediatric patient visits yearly. Innovative, interconnected and highly collaborative, the University of Colorado Anschutz Medical Campus delivers life-changing treatments, patient care and professional training and conducts world-renowned research fueled by $705 million in research grants. For more information, visit www.cuanschutz.edu.

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