It’s a Family Matter: The NIH INCLUDE Project

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NIH institutes and centers often receive messages from the public with requests for assistance, feedback on research findings, and notes on experiences. The mother of a child with intellectual and developmental disabilities (IDDs) recently reached out to NICHD after reading research findings that people with IDDs have been more affected by the COVID-19 pandemic than their peers. She relayed how daunting and exhausting it has been to maintain care and education for her child during these times, even for a seasoned parent accustomed to addressing various difficulties. She explained that knowing about the struggles of other families in similar situations made her feel less alone and thanked us for including people with IDDs and their families in our research.

These types of messages offer a powerful reminder that our work matters beyond the realm of science, policy, and healthcare. Families, neighbors, and communities depend on us and our research to shine a light on important issues and populations that historically have been overlooked. The messages also reaffirm the importance of making sure all populations, including people with IDDs, are part of these research efforts.

NIH launched the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) project in 2018 with this goal in mind. This NIH-wide research effort is examining critical health and quality-of-life needs for individuals with Down syndrome and their families. The INCLUDE project aims to increase participation of people with Down syndrome and their families in clinical research, expand our knowledge about Down syndrome and its links to other health conditions, and improve the health of this important population. The project name says it all.

NICHD, the National Institute on Aging (NIA), the National Heart, Lung, and Blood Institute (NHLBI), and the 11 other NIH institutes and centers involved in the INCLUDE project are excited about its possibilities. Studying Down syndrome and its co-occurring conditions can improve not only the health of people with Down syndrome, but also the health of others. Down syndrome has unique connections to some common conditions, such as Alzheimer’s disease, sleep apnea, and heart defects, and understanding these connections can offer insights that may apply across all populations. In addition, including people with Down syndrome and their families in research can tell us a lot about IDDs specifically and improve our overall understanding of human development, family dynamics, and resilience in general.

The INCLUDE project continued its progress recently by awarding over $60 million to support more than 40 new research projects on Down syndrome. The funded projects address a range of common syndrome features, such as motor and cognitive skill problems. Several projects will explore co-occurring conditions, ones that are more likely in people with Down syndrome. For example, Alzheimer’s disease is more common and occurs at younger ages in people with Down syndrome than it does in the general population. NIA is funding INCLUDE studies to understand this connection. Congenital heart defects, problems with the heart that are present at birth, also commonly co-occur in those with Down syndrome. NHLBI is funding INCLUDE studies to discover genes that may make people with Down syndrome more susceptible to these heart defects, and to explore problems with how the immune systems of people with Down syndrome respond to common pathogens of the upper respiratory tract.

These projects enhance and expand the INCLUDE portfolio to a level not seen before in the study of Down syndrome. This is truly a transformational project. But more than that, each award presents an opportunity to move closer to personalized medicine by improving inclusion, engagement, and health of people with Down syndrome and their families.

Diana W. Bianchi, M.D., Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development 
Richard J. Hodes, M.D., Director, National Institute on Aging
Gary H. Gibbons, M.D., Director, National Heart, Lung, and Blood Institute