As a practicing gastroenterologist, I treated patients who had Crohn’s disease and ulcerative colitis. Both are inflammatory bowel diseases (IBD) and among the most common autoimmune diseases. Over the last two decades, we have made progress in diagnosing IBD, but we have not yet identified biomarkers that enable us to screen for it. We have made revolutionary advances in targeting pharmaceutical therapies to manage IBD, but these options are still limited, many patients have refractory disease, and the therapies themselves may have significant side effects. There is currently no cure for IBD, so for much of their lives, patients may be at risk for developing additional autoimmune diseases as well as complications such as cancer, infections, and maternal/fetal complications. During the course of this study, I was also reminded that we do not have reliable U.S. incidence and prevalence data for IBD.

A goal of autoimmune disease research is to empower physicians to more accurately diagnose, treat, minimize, and ideally, cure disease. There is a critical research gap in personalized medicine, for example, the ability to measure a combination of individual genetics, serologies, phenotypes, and biological mechanisms that predict response to a specific therapy. Side effects and eventual failures, over time, of current medications dictate a need for continuing research into disease pathogenesis and candidate therapeutics.

Congressional legislation has often assisted in focusing National Institutes of Health (NIH) efforts to meet urgent demands related to the health and welfare of U.S. citizens. In 2019 Congress called for NIH to contract with the National Academies of Sciences, Engineering, and Medicine to identify and review NIH’s research efforts in the broad area of autoimmune diseases with a particular emphasis on the risk factors, diagnostic tools, barriers to diagnosis, treatments, and prospects for cure. Given the complexity of autoimmune diseases and the fact that they encompass many conditions, the committee’s expertise included clinicians and researchers in numerous specialties that focus on autoimmune diseases as well as epidemiologists, health disparities researchers, and persons familiar with NIH’s research administration processes.

NIH has conducted research that has contributed significantly to the advances in care of autoimmune disease, and it is important to continue to translate research knowledge into more precise diagnostic criteria and clinical interventions to achieve the best outcomes and benefit the lives of our patients. Progress in medical research requires visionary strategic thinking, the ability to meet constant challenges in disease prevention and therapeutics, new findings in genetics, coordination, and interdisciplinary guidance.

The recommendations of the committee in Chapter 7 are preceded by a thoughtful analysis of Institute and Center (IC) autoimmune disease research activity along with the committee findings and conclusions. The number and complexity of these diseases requires a concerted strategic effort that leverages the many research activities that occur across ICs. The committee identifies opportunities and options for enhancing autoimmune disease research at NIH. The committee’s recommendations provide a basis for developing a strategy with metrics that yield data that can be reviewed periodically. It is our hope that a subsequent review would show advancement in autoimmune disease research and improvements in outcomes.

On behalf of the committee, I would like express our thanks for the responsiveness of NIH’s ICs and Offices in aiding the committee to gather information. A special thanks to Lisa Begg (Office of the Director/Office of Research on Women’s Health), Susan Cooper (National Institute of Allergy and Infectious Diseases [NIAID]), and Ellen Goldmuntz (NIAID) for their guidance and support.

I would also like to thank the committee members for their tremendous commitment and hard work, all the more meaningful in view of increased responsibilities both in their practices and their lives as a result of the pandemic, and the need to meet and work together virtually.

On behalf of the committee, I would like to express our thanks and appreciation to the National Academies leadership and staff: Rose Marie Martinez, Senior Director of the Board on Population Health and Public Health Practice, and acting Study Director; Kristin White, Associate Program Officer; Dara Rosenberg, Research Associate; and Grace Reading, Senior Program Assistant. I would also like to thank former staff members Awo Osei-Anto, Senior Program Officer and Leila Meymand, Senior Program Assistant for their contributions to the study process.

Bernard M. Rosof, M.D., Chair, Committee on the Assessment of NIH Research on Autoimmune Diseases