Advancing Disability Research Through Community Engagement

A charcoal grey flag bisected diagonally from the top left corner to the lower right corner by five parallel stripes in red, pale gold, pale grey, light blue, and green.
Disability Pride Flag
Credit: Ann Magill

July is Disability Pride Month, an opportunity to honor the history, achievements, experiences, and struggles of those with disabilities. This observance commemorates the July 1990 enactment of the Americans with Disabilities Act (ADA), the federal civil rights law that prohibits discrimination against people with disabilities.

This year’s theme, We Want a Life Like Yours, reflects dreams for life experiences that people with disabilities are too often denied. We still have much to do to counter ableism—discrimination and social prejudice against people with physical, intellectual, and developmental disabilities.

As I discussed last fall, ableism is a major contributor to the health disparities experienced by people with disabilities. NICHD is committed to understanding the impact of ableism on health outcomes. Grants for research seeking to understand and mitigate health disparities caused by ableism are expected to be awarded later this summer.

We are also working to enhance community involvement in research. Becoming involved with scientific research empowers those with disabilities to take an active role in their health and the health of future generations. It also helps to ensure that the research questions asked will yield useful and applicable results. 

Recently, I have been particularly encouraged by the progress we are making in Down syndrome research, aided by community participation. People with Down syndrome, which results from having an extra copy of chromosome 21, are at risk for many other health conditions, including autoimmune disorders and Alzheimer’s disease.

Since its launch in 2013, NICHD’s DS-Connect®: The Down Syndrome Registry has recorded important health data from nearly 6,000 people with Down syndrome. Last month, we announced selection of a new service provider to manage and improve this online registry. Data from DS-Connect® have been instrumental for designing and recruiting for research studies, particularly those funded by NIH’s INCLUDE Project.

The INCLUDE Project, which started in 2018, seeks to further enhance inclusion of people with Down syndrome in research to examine their health and quality-of-life needs. This research also promises to improve knowledge about conditions affecting the general population. For example, researchers have found that Alzheimer’s progression in Down syndrome appears similar to other genetic, early onset forms of the disease.

Other INCLUDE-supported work has shed light on the factors underlying the symptoms and characteristics of Down syndrome. Chromosome 21 includes genes providing instructions for four interferon receptors—proteins that are critical for regulating the immune system. The extra copies of these genes in people with Down syndrome boost interferon signaling.

To delve into the link between interferon signaling and Down syndrome symptoms, investigators used genome editing to remove the extra interferon receptor genes from a mouse model of Down syndrome. Deleting these extra genes prevented heart malformations, attenuated developmental delays, and improved cognition in the mice, among other features. Although the findings have yet to be validated in people, they suggest that the additional interferon receptor genes contribute to many of the characteristics of Down syndrome.

In this context, the INCLUDE Project is funding a clinical trial evaluating whether tofacitinib, a drug that blocks interferon signaling, can safely improve immune skin conditions common in people with Down syndrome, including eczema, psoriasis, and vitiligo. Led by researchers at the University of Colorado Denver, the study also will assess the effect of tofacitinib on participants’ cognition and quality of life.

Understanding Down syndrome and other intellectual and developmental disabilities is part of the reason NICHD was established, and I am inspired by the progress being made through the INCLUDE Project and other programs. Inclusion of people with disabilities across the research enterprise—as leaders and members of the scientific workforce and as clinical research participants—is critical to ensuring that studies reflect the needs and desires of the people they seek to benefit. I look forward to further advances to benefit those with the intellectual, developmental, and physical disabilities that fall within NICHD’s purview.

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