Statement for the Record
Senate Subcommittee on Labor-HHS-Education Appropriations
May 2013 (historical)
Stephen I. Katz, M.D., Ph.D., Director
National Institute of Arthritis and Musculoskeletal and Skin Diseases
Mr. Chairman and Members of the Committee:
I am pleased to present the President’s Budget request for the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institutes of Health (NIH). The fiscal year (FY) 2014 NIAMS budget of $540,993,000 includes an increase of $6,202,000 over the comparable FY 2012 level of $534,791,000.
As the primary Federal agency for supporting medical research on diseases of the bones, joints, muscles, and skin, NIAMS touches the lives of nearly every American. The burden of these diseases is substantial. Arthritis limits the activities of nearly 21 million adults in the United States each year; medical care and lost wages attributable to musculoskeletal conditions cost Americans an estimated $950 billion annually; and skin conditions such as eczema and psoriasis affect more than 12 percent of people world-wide1. NIAMS is accomplishing its mission of improving health by supporting basic and translational research that will impact clinical practice, by training the next generation of bone, joint, muscle, and skin scientists, and by disseminating the findings from its studies, and related health information, to all Americans.
BASIC SCIENCE: THE FOUNDATION FOR TOMORROW
Tomorrow’s treatments are rooted in the basic research conducted today. NIAMS is committed to better understanding the molecular and cellular processes that contribute to health and disease. This basic research will serve as the foundation for new diagnostic tests, therapies, and prevention strategies that will improve the lives of those who are affected by arthritis, and musculoskeletal and skin conditions.
NIAMS investigators are leveraging the nation’s investment in understanding the human genome and making use of its associated technologies. One such project is studying facioscapulohumeral muscular dystrophy (FSHD)—a neuromuscular disease of the face, shoulders, and upper arms. Building on earlier findings about DNA sequences on chromosome 4 that lead to FSHD, researchers discovered that a rare form of the disease—called FSHD2—is caused by mutations on both chromosome 4 and chromosome 18. These results set the stage for new diagnostic tests and treatments for patients who have FSHD2. Moreover, the recognition that distant genes interact with each other may lead to similar discoveries in other conditions.
NIAMS recognizes industry’s important role in conducting basic research, developing new technologies, and commercializing federally supported discoveries. For this reason, NIAMS is offering grants to eligible small businesses for development of biomarkers or therapies for rare musculoskeletal, rheumatic, or skin diseases.
TRANSLATIONAL SCIENCE: BRIDGING BENCH AND BEDSIDE
NIAMS basic research can only improve public health when the understanding it generates is translated into new and improved treatments and preventive strategies. Recent insights into the molecular mechanisms of cell processes are already suggesting treatments. NIAMS researchers at the NIH Clinical Center launched a small clinical trial after experiments into the cause of neonatal-onset multisystem inflammatory disease (NOMID) revealed that it may be corrected with the adult rheumatoid arthritis (RA) drug anakinra. The children participating in the trial, who had been ill for years, improved within days of receiving the drug. Their rashes disappeared, their eye problems resolved, and their hearing improved or stopped worsening. The investigators then initiated a five-year study, which led to U.S. Food and Drug Administration (FDA) approval of anakinra for pediatric NOMID patients earlier this year.
NIAMS-funded basic research also contributed to the recent FDA approval of a new treatment for RA. The drug, tofacitinib, targets a protein discovered at NIH in 1993. Following many years of collaboration between NIH and private industry, tofacitinib became the first drug approved in more than a decade that can be taken as a pill, rather than an injection, to slow or halt RA joint damage. It provides an option for adults with moderately to severely active RA who do not respond well to the standard therapy for the disease—methotrexate.
In addition to helping patients by supporting basic research and developing new treatments, NIAMS facilitates work that guides clinicians in the use of existing therapies. NIAMS funding assisted a national consortium of pediatric rheumatologists establish treatment recommendations for newly diagnosed juvenile idiopathic arthritis patients, and for children who develop kidney inflammation due to lupus. These recommendations are guiding patient care today and can be integrated into future effectiveness and toxicity studies as therapies are developed.
Other work may help clinicians predict which scleroderma patients will respond to the drug mycophenolate mofetile (MMF), one of the standard therapies for this disorder. A small clinical trial built on findings about the molecular causes of scleroderma revealed a connection between gene expression patterns in patients’ skin biopsies and their responses to MMF. If an ongoing study confirms this genetic biomarker’s predictive value, countless patients might be spared needless exposure to MMF and could begin receiving other drugs before their disease progresses.
NIAMS-supported research also is contributing to knowledge about dietary and behavioral changes that can prevent common public health challenges. Poor nutritional habits increase older Americans’ risk of metabolic acidosis, a condition that occurs when the body produces too much acid or the kidneys fail to remove excess acid from the blood. Because bone is a reservoir for alkaline salts (e.g., calcium phosphate), it can lose minerals and weaken in an effort to maintain a healthy acid-base balance. Findings from an NIAMS-funded clinical trial revealed that the dietary supplement potassium citrate improves the acid-base equilibrium of people’s blood, their calcium balance, and markers of skeletal health. This supports the hypothesis that potassium citrate can slow or prevent bone loss that occurs with age. If future studies confirm the results, potassium citrate could become a safe and easily administered intervention for patients who have, or are at risk of, osteoporosis and related fractures.
NIAMS research findings are assisting health care providers and patients select among treatment options. Many adults have debilitating knee pain due to a tear in the meniscus, a cushion-like tissue that absorbs impact. Although meniscal tears can be treated with physical therapy or surgery, it was unclear which intervention was best until a recent paper showed that most patients benefited equally from either option over time. Those in the physical therapy group improved less quickly, however, and about one-third resorted to surgery because physical therapy did not provide adequate relief.
ENSURING A DIVERSE SCIENTIFIC WORKFORCE
NIAMS is committed to developing and retaining a diverse and collaborative scientific workforce. Planning discussions in FY 2012 that included investigators, health professionals, and patients identified the transition from mentored research to full independence as a vulnerable period in clinician-scientists’ careers. In FY 2013, NIAMS met with grantees nearing the end of their clinical or patient-oriented research career development awards to learn about the challenges they and their peers are facing. NIAMS plans for FY 2014 include a similar effort, with a long-term goal of identifying ways to better support early-stage investigators’ transition to research independence.
SHARING HEALTH INFORMATION AND RESEARCH PROGRESS
The Internet and other electronic communication platforms have emerged as valuable tools for disseminating health information. An increasing number of visitors are accessing the NIAMS website from mobile devices, and current trends indicate that mobile traffic to websites may overtake desktop traffic as soon as 2015. In response, NIAMS began providing its health information in a mobile device friendly format in FY 2013. NIAMS will continue to assess and adapt to new technologies and tools to provide research updates and health information to the widest possible audience.
Stephen I. Katz, M.D., Ph.D.
Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases
Stephen I. Katz, M.D., Ph.D., has been Director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases since August 1995 and is also a Senior Investigator in the Dermatology Branch of the National Cancer Institute. He was born in New York in 1941, and his early years were spent in the Washington, D.C., and Bethesda, Maryland areas. After attending the University of Maryland, where he graduated with honors, he graduated from the Tulane University Medical School with honors in 1966. He completed a medical internship at Los Angeles County Hospital and did his dermatology residency at the University of Miami Medical Center from 1967 to 1970. He served in the U.S. military at Walter Reed Army Medical Center from 1970 to 1972. From 1972 to 1974, Dr. Katz did a postdoctoral fellowship at the Royal College of Surgeons of England and obtained a Ph.D. degree in immunology from the University of London in 1974. He then became Senior Investigator in the Dermatology Branch of the National Cancer Institute and assumed the position of Acting Chief in 1977. In 1980, he became Chief of the Branch, a position he held until 2002. In 1989, Dr. Katz also assumed the position of Marion B. Sulzberger Professor of Dermatology at the Uniformed Services University of the Health Sciences in Bethesda, Maryland, a position that he held until 1995.
Dr. Katz has focused his studies on immunology and the skin. His research has demonstrated that skin is an important component of the immune system both in its normal function and as a target in immunologically mediated disease. In addition to studying Langerhans cells and epidermally derived cytokines, Dr. Katz and his colleagues have added considerable new knowledge about inherited and acquired blistering skin diseases.
Dr. Katz has trained a large number of outstanding immunodermatologists in the U.S., Japan, Korea, and Europe. Many of these individuals are now leading their own high-quality, independent research programs. He has served many professional societies in leadership positions, including as a member of the Board of Directors and President of the Society for Investigative Dermatology; on the Board of the Association of Professors of Dermatology; as Secretary-General of the 18th World Congress of Dermatology in New York in 1992; as Secretary-Treasurer of the Clinical Immunology Society; and as President of both the International League of Dermatological Societies and the International Committee of Dermatology. Dr. Katz has also served on the editorial boards of a number of clinical and investigative dermatology journals, as well as several immunology journals. He has received many honors and awards, including the Master Dermatologist Award and the Sulzberger Lecture Award of the American Academy of Dermatology; the National Cancer Institute’s Outstanding Mentor Award; the Harvey J. Bullock, Jr., EEO Award in recognition of his extraordinary leadership in scientific, programmatic, and administrative arenas; the Excellence in Leadership Award from the Intl. Pemphigus Foundation; the "Change It" Champion Award from Parent Project Muscular Dystrophy; the Paul G. Rogers Leadership Award from the National Osteoporosis Foundation; honorary membership in the American Academy of Dermatology and the Society for Investigative Dermatology, as well as numerous international dermatological societies; and election into the Institute of Medicine of the National Academy of Sciences (USA). He has also received the Alfred Marchionini Gold Medal; the Lifetime Achievement Award of the American Skin Association; Doctor Honoris Causa Degrees from Semmelweis University in Budapest, Hungary, Ludwig Maximilian University in Munich, Germany, and the University of Athens in Greece. He also received the Rothman Award for distinguished service to investigative cutaneous medicine and the Kligman/Frost Award, both from the Society for Investigative Dermatology. Dr. Katz has been honored by the Japanese government from which he received the Order of the Rising Sun, Gold Rays with Neck Ribbon from the Japanese Emperor. Dr. Katz has twice received the Meritorious Rank Award and has also received the Distinguished Executive Presidential Rank Award, the highest honor that can be bestowed upon a civil servant.
1 Cheng YJ, et al. Prevalence of doctor-diagnosed arthritis and arthritis-attributable activity limitation—United States, 2007–2009. MMWR 2010;59(39):1261–1265
U.S. Department of Health and Human Services, Agency for Healthcare Research and Quality, Medical Expenditures Panel Survey, 1996 – 2006. Data analyzed and modeled by Edward H. Yelin, PhD, Institute for Health Policy Studies, University of California, San Francisco, San Francisco, CA, as cited in www.boneandjointburden.org/highlights/FactsinBrief.pdf, accessed March 27, 2013
Vos T, et al. Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010. Lancet. 2012 Dec 15;380(9859):2163-96. doi: 10.1016/S0140-6736(12)61729-2.