Archive for the ‘Press Releases’ Category

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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The National & International Organizations Will Work Together on Outreach and Education Associated with Research & Medical Care at the NDSC Annual Convention and Beyond

DENVER, ATLANTA, PHOENIX – July 24, 2024 – Today, at the NDSC Annual Convention, the largest Down Syndrome annual gathering in the world, Global Down Syndrome Foundation (GLOBAL) and the National Down Syndrome Congress (NDSC) announced a multi-year collaboration agreement.

The agreement solidifies GLOBAL and NDSC’s 12-year collaboration around research, medical care outreach, and education at the NDSC Annual Convention. Specifically, it ensures that (1) thousands of NDSC Annual Convention attendees can participate in the convention’s GLOBAL Research & Medical Care Roundtable as a free benefit associated with registration, (2) participation in Crnic Institute research will expand to on-site hearing exams, and (3) there is continued sponsorship and support for the convention and NDSC’s important resources, such as various toolkits.

The GLOBAL Research & Medical Care Roundtable (GLOBAL Roundtable) has educated over 4,000 self-advocates, parents, and professionals on cutting-edge scientific breakthroughs, clinical trials, medical best practices and more. Surveys associated with the GLOBAL Roundtable consistently average 4.8 out of 5 underscoring its impact. Anyone who has registered for the NDSC Annual Convention can register for the GLOBAL Roundtable for free. This year’s GLOBAL Roundtable includes welcome remarks from NDSC Executive Director, Jim Hudson, GLOBAL President & CEO, Michelle Sie Whitten, GLOBAL Vice President for Research and Medical Care, Bryn Gelaro, and Author, Speaker, Actor, Advocate & Quincy Jones Exceptional Advocacy Awardee, David Egan. The GLOBAL Roundtable slate of renowned Down syndrome experts for 2024 are:

• Joaquín Espinosa, PhD, Executive Director, Linda Crnic Institute for Down Syndrome (Crnic Institute) – Espinosa will discuss the latest research topics from the Linda Crnic Institute for Down Syndrome.
• Melissa Parisi, PhD, MD, Chief of the Intellectual and Developmental Disabilities (IDD) – Dr. Parisi will discuss The NIH INCLUDE Project: Accelerating Research Discoveries for People with Down Syndrome Across the Lifespan.
• Michael Rafii, MD, PhD, Professor of Clinical Neurology at the Keck School of Medicine and Medical Director of the Alzheimer’s Therapeutic Research Institute (ATRI) – Rafii will explore the intersection of Down syndrome and Alzheimer’s disease.
• Elise Sannar, MD, Associate Professor of Psychiatry and Pediatrics, Sie Center for Down Syndrome at Children’s Hospital Colorado & University of Colorado, Anschutz Medical Campus Aurora, CO – Dr. Sannar will share her expertise on psychiatric medication use in individuals with Down syndrome.
• Lina Patel, PsyD, Associate Professor of Child and Adolescent Psychiatry at the University of Colorado School of Medicine – Dr. Patel will present on differentiating challenging behaviors from mental health concerns in individuals with Down syndrome.
• Nicole Baumer, MD, MEd, Director, Down Syndrome Program; Assistant, Department of Neurology and Developmental Medicine Center, Boston Children’s Hospital – Baumer will address co-occurring neurodevelopmental conditions in Down syndrome.

“We are so pleased to continue our collaborations with the NDSC and to have supported their must-attend annual convention for nearly twenty years,” says Michelle Sie Whitten, President & CEO of GLOBAL. “With Jim Hudson as the incoming Executive Director and the NDSC’s wonderful long-time staff, we are excited to see our joint efforts grow to reach thousands more people with Down syndrome and their families.”

Jim Hudson says, “Before coming to the NDSC, I was the Executive Director of the Down Syndrome Association of Greater Cincinnati. Several years ago, we did a needs assessment of our Cincinnati families. One of the items that repeatedly popped to the top of the list was the importance of accessibility and quality medical care for their loved ones with Down syndrome.  So, when I came to the NDSC, I was very excited to learn more about this fantastic partnership with our friends at the Global Down Syndrome Foundation, who have organized these sessions for over ten years. As NDSC’s newest Executive Director, I am pleased to expand this exciting multi-year partnership.”

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About the National Down Syndrome Congress Annual Convention

Each year, thousands of people from around the globe attend the National Down Syndrome Congress Convention. For many, it’s to hear from world-renowned experts; for others, it’s to experience a one-of-a-kind community event. Our Convention includes multiple conferences for educators, siblings, youth and adult self-advocates, and our unparalleled Advocacy Training Boot Camp, all alongside the GLOBAL Medical Research Roundtable.

About the NDSC

The National Down Syndrome Congress (NDSC) is a not-for-profit organization dedicated to an improved world for individuals with Down syndrome. Founded in 1973, we are the leading national resource of support and information for anyone touched by or seeking to learn about Down syndrome, from the moment of diagnosis, whether prenatal or at birth, through adulthood.

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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