February 22, 2018
Stephen I. Katz, M.D., Ph.D.
Stephen I. Katz, M.D., Ph.D.

The first National Arthritis and Musculoskeletal and Skin Diseases Advisory Council meeting of the year gives the Institute an opportunity to share progress with members about the activities of the NIAMS Intramural Research Program (IRP). The annual presentations from NIAMS Scientific Director John J. O’Shea, M.D., and Clinical Director Richard Siegel, M.D., Ph.D., are a special highlight for me. These talks illustrate how IRP exemplifies the best qualities of the NIH Intramural Research Program – outstanding basic science discovery, translational and clinical research that bridges the bench and bedside to improve patients’ lives and building the next generation of scientists and clinicians.

NIAMS continues to pioneer new technologies and research tools to enhance our understanding of basic cellular biology. Our intramural labs have identified new mechanisms that control which genes are active in a cell, and how cells differentiate into the body’s many tissues and organs. For example, a recent study found that degradation and removal of certain RNA molecules inside cells can be as important as their classical function of transcribing genetic information into proteins. Other NIAMS researchers are identifying factors that control the organization of DNA within the nucleus and improving our understanding of how cell activation and differentiation change nuclear architecture to alter expression of genes. These discoveries could help inform the development of drugs that impact gene expression, such as regenerative and precision medicine treatments.

The NIAMS intramural translational and clinical research programs also continue to advance our understanding of the mechanisms leading to disease. In a recent study, researchers at NIAMS, along with NIH and academic collaborators, examined the genome of families and individuals affected by a newly identified immune syndrome. These patients experience both immunodeficiency – an impaired ability to respond to infections – and autoimmunity – an unwanted immune system attack on healthy tissues. The group revealed that one of the two copies of a particular gene, called BACH2, had been changed in the affected patients. This finding suggests that the amount of protein made from the normal copy of the BACH2 gene is insufficient to prevent disease, a scenario known as haploinsufficiency, and highlights the key role BACH2 plays in maintaining a healthy immune system. NIAMS researchers are also exploring the mechanisms that contribute to the development and maintenance of autoimmunity. Their work has shown how the normal activity of the immune system, and certain environmental exposures, can trigger or promote autoimmunity. This understanding is paving the way for new therapeutic strategies.

Our intramural family grew in 2017 with the addition of the Dermatology Branch, formerly a part of the National Cancer Institute. This transition brought tremendous talent and new scientific expertise to the Institute. Dermatology Branch scientists are examining an array of issues, including the role of the microbiome – the host of microorganisms that reside on our skin and within our bodies – in health and disease. In particular, they identified that people with atopic dermatitis, commonly called eczema, have a different complement of bacteria on the skin than those who do not. Recently, the group demonstrated that high levels of one particular bacterium, Staphylococcus aureus, which causes staph infections on the skin, leads to development and progression of eczema. This work synergizes with other labs in the NIAMS intramural program that are examining the intersection between genetics and the microbiome. In an animal model paper published just a few weeks ago, NIAMS scientists showed how a genetic risk factor for ankylosing spondylitis, a form of arthritis, leads to changes in the gut microbiome, called dysbiosis. Interestingly, while the gut bacteria performed similar functions from one animal strain to another, the particular bacteria were different. This new understanding will shape how scientists and clinicians think about the contribution of individual microbes and the entire microbiome in health and disease.

As we acknowledge our newest breakthroughs, we always cast an eye toward the next generation of scientists and clinicians  Through the intramural program’s Career Development and Outreach Branch, NIAMS offers training opportunities at all educational levels, from summer experiences targeting undergraduate, graduate and professional school students, through postdoctoral training and medical specialty fellowships. In addition, our Scholars in Translational Research program, along with the Assistant Clinical Investigator program, continue to develop a cadre of leaders in rheumatology research who are well positioned to attain tenure-track faculty positions at NIH and elsewhere.

As you can see, the NIAMS IRP truly exemplifies the mission of the NIH. Our dedicated scientists and clinicians strive every day to enhance health, lengthen life and reduce illness and disability. I encourage you to stay connected by following the NIAMS Labs Facebook page and be sure to visit the Labs @ NIAMS section of the redesigned NIAMS website.

Stephen I. Katz, M.D., Ph.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases
National Institutes of Health

Last Reviewed: 02/22/2018