February 1, 2014

A compilation of news from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). Published three times a year. Just scan these “shorttakes” for information on what’s happening at the NIAMS, or access the complete articles for viewing or use in your own newsletter or other publication.

From the Director . . .

Approximately 10 percent of the NIH, and in turn NIAMS’, annual budget is devoted to research conducted right here in Bethesda, Maryland, through our Intramural Research Program (IRP). This investment is yielding high returns, and I would like to take this opportunity to tell you more about our IRP and the talented group of scientists who work in it.

The intramural research program at NIH, comprised of scientists from 23 Institutes and Centers, provides a stimulating environment where long-term, high-impact projects can be pursued. The diversity of scientists and research interests across the NIH provides a unique incubator where truly innovative solutions can be explored. Here at the NIAMS, our IRP is home to 21 principal investigators, led by Scientific Director John O’Shea, M.D., and Clinical Director Richard Siegel, M.D., Ph.D. Our program spans eight primary focus areas, including bone biology, clinical and epidemiological research, genomics and epigenomics, immunology, muscle biology, skin biology, structural biology, and stem cell and induced pluripotent stem cell biology. Our intramural researchers’ work is frequently published in top-tier journals, including The New England Journal of Medicine, Science, Nature, and Cell, and they train numerous post-doctoral research fellows and students, helping to build the next generation of researchers.

I am proud to say that over the past year, two drugs have been approved by the U.S. Food and Drug Administration (FDA) based in part on research from the NIAMS IRP. The first, tofacitinib (brand name Xeljanz), was developed through a public-private partnership between Dr. O’Shea and the pharmaceutical company Pfizer. In the early 1990’s, Dr. O’Shea’s research group identified a group of proteins, called Janus kinases, that are important in regulating the human immune system, and they hypothesized that blocking the proteins might protect against the damaging inflammation of rheumatoid arthritis (RA) and certain other autoimmune diseases. After many years of collaborative research, a new class of drugs targeting Janus kinases exists. Tofacitinib is a member of this new class, and is the first new drug in more than a decade that can be taken as a pill, rather than an injection, to slow or halt RA joint damage. Many clinical studies are now being pursued to explore the use of this drug in the treatment of psoriasis and many other inflammatory diseases.

The second FDA approval was for the new use of an established drug to treat a rare genetic disease in children. Neonatal-onset multisystem inflammatory disease (NOMID) is a rare, debilitating disease that strikes within the first weeks of life. If left untreated, children with NOMID may develop hearing and vision loss, cognitive impairment, and physical disability. Previous work by NIAMS IRP clinical researcher, Raphaela Goldbach-Mansky, M.D., M.H.S., Acting Chief of the Translational Autoinflammatory Disease Section, showed that the symptoms of NOMID were facilitated through the immune system’s interleukin-1 (IL-1) signaling pathway, and that blocking IL-1 with the FDA-approved RA drug anakinra relieved symptoms of NOMID. Recently, Dr. Goldbach-Mansky and her team conducted a successful clinical trial demonstrating that anakinra not only improved the signs and symptoms of NOMID, but also worked over the long-term to stop the progression of organ damage. Based on the trial’s results, anakinra has become the first FDA-approved treatment for NOMID.

NIAMS IRP researchers are frequently recognized for their outstanding contributions to their fields. Recently, Paul H. Plotz, M.D., Scientist Emeritus, was awarded the 2013 Presidential Gold Medal from the American College of Rheumatology (ACR). The medal is the highest award the ACR can bestow and recognizes “outstanding achievements in rheumatology over an entire career.” Dr. Plotz has been with NIH for nearly 40 years, and his pioneering work in myositis, and more recently Pompe Syndrome, is a model for moving basic research from bench to beside, and back again.

NIAMS also enhanced our IRP’s expertise in rheumatology with the addition of two key staff members over the past year. James D. Katz, M.D., is the new Director of the Rheumatology Fellowship and Training Branch overseeing the Rheumatology Fellowship Training Program. He is also the Director of the intramural NIAMS Community Research and Care Branch. Dr. Katz has published studies on decision-making skills in physician trainees and has received numerous honors and awards for his clinical expertise, teaching, and mentoring — skills that will be essential in his new position at NIAMS. I am also pleased to report that Mariana Kaplan, M.D., was appointed as Chief of the newly established intramural Systemic Autoimmunity Branch. Dr. Kaplan is a rheumatologist and most recently was a Professor of Internal Medicine in the Division of Rheumatology, Department of Internal Medicine, at the University of Michigan, where she held several active NIH grants. Her branch will combine natural history and treatment studies with basic investigations to uncover the underlying causes of rheumatic diseases, with an emphasis on systemic lupus erythematosus and other systemic autoimmune diseases affecting adults.

NIAMS’ IRP is a dynamic program and is conducting outstanding work that improves the lives of people with musculoskeletal, rheumatic, and skin diseases. I encourage you to connect with them through the NIAMS IRP Facebook page to stay up-to-date on the latest research. You can also connect to the Rheumatology Fellowship program through their Facebook page or Twitter feed.

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

Research Watch and Announcements . . .

The NIH, 10 biopharmaceutical companies, and several nonprofit organizations launched an unprecedented partnership, the Accelerating Medicines Partnership (AMP), which aims to distinguish biological targets of disease most likely to respond to new therapies and characterize biological indicators of disease, known as biomarkers.

Replacing a protein that is crucial to ensuring that the skin’s epidermis and dermis adhere to one another may be the key to treating epidermolysis bullosa effectively.

New research has uncovered chemical signals that drive the regeneration of lost digit tips in mice.

Scientists at the NIAMS have uncovered new clues as to how the bone abnormalities of spondyloarthritis occur.

Muscle exertion is necessary to ensure the development of a functional, structurally sound connection between tendon and bone in young mice.

Nearly one-fifth of patients who undergo knee surgery to reconstruct a torn anterior cruciate ligament (ACL) eventually need to have additional surgery on the same knee. The study also clarified key risk factors associated with the need for subsequent knee surgeries.

Integrins, a large class of cell surface molecules, play a role in a skin disease called scleroderma. A recent study showed that targeting integrins in mice with a form of scleroderma reversed the skin abnormalities associated with the disease.

The presence of a specific type of gut bacteria correlates with rheumatoid arthritis in newly diagnosed, untreated people. The finding suggests a potential role for the bacteria in this autoimmune disease.

The Foundation for the National Institutes of Health (FNIH) Biomarkers Consortium announced the launch of a three-year study to track the progression of osteoporosis more precisely and pave the way for more effective treatments.

A compound commonly found in household laundry detergents may help preserve muscle tissue after a severe injury.

Adult muscle stem cells in mice can be turned into brown fat—an energy-burning type of fat—by altering the presence of one gene regulator.

Bracing in adolescents with idiopathic scoliosis reduces the likelihood that the condition will progress to the point that surgery is needed.

Grants and Contracts . . .

For information on NIH Funding Opportunities related to the NIAMS, please subscribe to the monthly NIAMS Update or visit the Funding Opportunities List on the NIAMS website and the NIH Guide for Grants and Contracts.

Highlights From the Hill, DHHS and NIH . . .

Congressional Visits with the American Academy of Dermatology Association (AADA)

On September 11, 2013, at the invitation of the AADA, Stephen I. Katz, M.D., Ph.D., accompanied Dirk Elston, M.D., President, American Academy of Dermatology, on visits to congressional offices to discuss the importance of biomedical research. Christine O’Connor, Associate Director for Congressional Policy, AADA, and NIH staff also attended. The group met with Representative Andy Harris (R-MD); Mr. Eric Anthony, Legislative Assistant to Representative Rosa DeLauro (D-CT); Senator Tom Harkin (D-IA); and Ms. Mary Carpenter, Staff Assistant to Representative Jack Kingston (R-GA).

New Law — National Pediatric Research Network

On November 27, 2013, the President signed S. 252, which included a provision for the National Pediatric Research Network Act of 2013.

The National Pediatric Research Network Act of 2013 allows NIH to establish a National Pediatric Research Network composed of an unspecified number of pediatric research consortia or networks as recognized by the Director. The consortia will collectively support all aspects of research — basic, clinical, behavioral, or translational research and training. S. 252 became Public Law No: 113-55.

For More Information

For other related legislative highlights, please refer to the NIH Office of Legislative and Policy Analysis website.

Budget Update

FY 2013

In FY 2013, the NIAMS funded 260 new and competing continuation applications for a success rate of 15.9 percent—a figure higher than last year’s rate of 15.6 percent. The overall NIH success rate is estimated to be 16.8 percent.

FY 2014

NIH is operating under the Consolidated Appropriations Act (Omnibus) of 2014, signed by President Obama on January 17, 2014. The legislation provides NIH funding for just over $30 billion, which is an increase of approximately one billion from the post-sequestration FY 2013 budget.

The funding level for the NIAMS is $520 million, which is an increase of $15 million from the post-sequestration FY 2013 budget. The operational funding plan for FY 2014 is available on the NIAMS website.


The President is expected to release his FY 2015 budget proposal in early spring.

NIAMS Faces . . .

The NIAMS welcomes five new ad hoc Advisory Council members:

  • Gary A. Koretzky, M.D., Ph.D., is the Dean of the Weill Cornell Graduate School of Medical Sciences and Senior Associate Dean for Research at Weill Cornell Medical College. Dr. Koretzky’s research focuses on signal transduction events that are important for hematopoietic cell development and function. He has identified and characterized a number of key signaling molecules that regulate activation of immunoreceptors and integrin. Dr. Koretzky also looks at biochemical, cell biologic, and genetic approaches to probe the importance of these signaling pathways in the basic biology and pathobiology of hematopoietic cell function.
  • Grace K. Pavlath, Ph.D., is a Professor in the Department of Pharmacology at the Emory University School of Medicine. Dr. Pavlath’s research focuses on signaling pathways regulating satellite cells and muscle regeneration; muscle cell migration; cell-cell recognition and cell fusion; fibrosis and muscle regeneration; nuclear transport and satellite cell function; and how mutations in RNA binding protein PABPN1 lead to oculopharyngeal muscular dystrophy. Dr. Pavlath is a member of the Scientific Advisory Committee of the Muscular Dystrophy Association.
  • Christy Sandborg, M.D., is a Professor of Pediatrics in the Division of Pediatric Rheumatology at the Stanford University School of Medicine. Dr. Sandborg’s focus for the past decade has been on the future of academic pediatrics and pediatric rheumatology through providing research and training opportunities to nurture and challenge future pediatric rheumatologists and subspecialists. Her research involves designing new models of care and health care delivery for children with complex chronic illnesses.
  • Alexander Silver, M.B.A., is Co-Founding Partner of P2 Capital Partners LLC in New York, New York. Mr. Silver also is founder and chairman of the Jackson Gabriel Silver Foundation, a non-profit organization focused on finding treatments and cures for epidermolysis bullosa. He started the Jackson Gabriel Silver Foundation in 2010. Mr. Silver’s foundation has backed a number of research projects in the United States and the United Kingdom.
  • Gwendolyn Powell Todd, Ed.D., is a professional leader, educator, and advocate for patients with cicatricial alopecia. She applies leadership, teaching, and coaching expertise in business, education, healthcare, and community service environments. Dr. Powell Todd has worked with for-profit and non-profit organizations, and has served as Chairperson of the Administrative Council of Oklahoma Teaching Hospitals. She is also a speech and language pathologist.

Mariana Kaplan, M.D., has joined the NIAMS as Chief of the newly established NIAMS Intramural Research Program (IRP) Systemic Autoimmunity Branch. Dr. Kaplan, a rheumatologist, is leading a new research program focusing on adult rheumatic diseases. Prior to joining the NIAMS, Dr. Kaplan was a Professor of Internal Medicine in the Division of Rheumatology, Department of Internal Medicine, at the University of Michigan. Dr. Kaplan graduated summa cum laude from the National Autonomous University of Mexico School of Medicine in 1992, and completed her rheumatology fellowship at the University of Michigan in 1998.

Mark F. Gourley, M.D., former director of the NIAMS IRP Rheumatology Fellowship and Training Branch, NIAMS, recently retired after two decades of federal service. Dr. Gourley also oversaw clinical care at the NIAMS Community Health Center (CHC), a medical research program in the Washington, D.C., region that provides health care services to people affected by arthritis, lupus, and other rheumatic diseases. Dr. Gourley plans to continue mentoring young scientists after his retirement, serving as a special volunteer and assisting in teaching the NIAMS rheumatology fellows.

Stephanie Burrows, Ph.D., has joined the NIAMS Office of Science Policy, Planning and Communications as a Science Policy Analyst. Dr. Burrows joined the NIAMS after nine years at the National Heart, Lung, and Blood Institute (NHLBI) as a Scientific Program Specialist. At NHLBI, she worked on policy, planning, reporting, and evaluation projects and served as the NHLBI legislative liaison for several years. Dr. Burrows holds a bachelor’s degree in Molecular Biology from Princeton University and a doctorate in Biology from the Massachusetts Institute of Technology.

In October, Sharon Louis, Program Coordinator for the IRP Career Development and Outreach Branch (CDOB), retired after more than 30 years at the NIH—most of which were spent at the NIAMS. Ms. Louis provided instrumental support and coordination for the NIAMS Adopt-a-School Partnership Program and the NIAMS Summer Student Program. She also represented NIAMS at national conferences to promote diversity in biomedical research careers.

Two NIAMS-supported researchers were chosen by the White House Office of Science and Technology Policy to be among the Presidential Early Career Award for Scientists and Engineers (PECASE) winners. They are Katherine A. Radek, Ph.D., Assistant Professor, Department of Surgery, at Loyola University Chicago, for studies linking nicotinic activation with skin innate immunity and atopic dermatitis; and Katherine A. Rauen, M.D., Ph.D., Professor and Medical Geneticist at the University of California at San Francisco, and Director of the NF/Ras Pathway Genetics Clinic, for studies on the role of germline mutations in the Ras/MAPK pathway on skeletal myogenesis.

NIH Faces . . .

National Institutes of Health Director Francis S. Collins, M.D., Ph.D., has appointed:

Kudos. . .

On October 26, 2013, the American College of Rheumatology (ACR) awarded Paul H. Plotz, M.D., Scientist Emeritus at the NIAMS, with the 2013 Presidential Gold Medal. The medal is the highest award that the ACR can bestow, and recognizes "outstanding achievements in rheumatology over an entire career."

NIAMS Communications and Outreach Update. . .

Multicultural Outreach

The NIAMS has developed a set of multicultural health planners for 2014, titled A Year of Health: A Guide to a Healthy 2014 for You and Your Family. These planners, tailored for four multicultural communities (African Americans, American Indians/Alaska Natives/Native Hawaiians, Asian Americans/Pacific Islanders, Hispanics/Latinos), provide research-based health tips and information about staying healthy and managing conditions of the bones, joints, muscles and skin. In addition, the NIAMS created an electronic toolkit with resources to help organizations distribute the planners to multicultural communities. The planners are available free of charge through the NIAMS Information Clearinghouse: 877–226–4267 (TTY: 301–565–2966) or email NIAMSinfo@mail.nih.gov. After the printed copies have been distributed, a printable version will remain available on the NIAMS website.

Public Liaison

NIAMS Coalition Activities

The Institute continues to work with the NIAMS Coalition to share the latest research advances and related developments, and to foster dialogue on the future path and directions of NIAMS-funded research. The NIAMS Coalition, a group of nearly 90 professional and voluntary organizations, raises awareness about research into the basic understanding, causes, incidence, treatment and prevention of diseases of the bones, joints, muscles, skin, and connective tissues.

The NIAMS Coalition 2013 Outreach and Education Day: Creating Connections for Science, took place on Wednesday, November 6, 2013. The biennial, day-long meeting provided Coalition organizations with the opportunity to learn more about the most recent initiatives and latest scientific advances of the NIAMS and the NIH. More than 40 representatives of different Coalition organizations attended the meeting. Attendees were able to expand their knowledge of the programs and opportunities available at the NIH and the NIAMS, interact with staff, and share ideas about how to best collaborate with the Institute and each other. NIH Director Francis S. Collins, M.D., Ph.D., opened the meeting with an inspiring welcome, and set the tone for the gathering by expressing gratitude for the work of the Coalition. Attendees also heard from other speakers, including Maria Freire, Ph.D., President and Executive Director of the Foundation for the National Institutes of Health (FNIH). She described how the FNIH supports the NIH mission by creating public/private partnerships to boost funding for promising projects.

Social Media

The NIAMS presence on social media continues to grow. At the end of 2013, nearly 4,500 Twitter users were following NIAMS and 1,850 Facebook users "liked" the NIAMS page. Posts on these two social media accounts were vital in the promotion of the National Multicultural Outreach Initiative’s (NMOI) health planners for 2014.

On December 10, 2013, NIAMS held its first Twitter chat to discuss the Patient Reported Outcomes Measurement Information System (PROMIS), an initiative supported by the NIH Common Fund and several NIH Institutes, including the NIAMS. PROMIS Chief Science Officer, Jim Witter, M.D., Ph.D., and Phil Tonkins, Ph.D., served as subject matter experts. The chat resulted in 157 Twitter engagements, 160 messages sent on Twitter, and approximately 300,000 Twitter impressions.

On January 16, 2014, NIAMS participated in a Public Broadcasting System (PBS) Twitter chat on the topic of arthritis. Gayle Lester, Ph.D., and Jim Witter, M.D., Ph.D., served as our subject matter experts. Other participants included the Centers for Disease Control and Prevention, the Mayo Clinic, the American College of Rheumatology, and the Arthritis Foundation. More than 220 people sent about 1,150 tweets during the hour. The chat had one million impressions, which translates to a reach of roughly 10 million people. It "trended" on Twitter, indicating high popularity among Twitter users.

NIAMS Website

The NIAMS website now has an Asian-Language Publications page. The NIAMS has translated some of its most popular fact sheets into Chinese, Korean and Vietnamese. These fact sheets offer health information about many diseases affecting Asian Americans, including osteoporosis, arthritis, lupus and gout. You may access and download nearly 50 Asian-language publications from this new webpage. Several Chinese-language audio publications are also available.

Media Highlights

NIAMS Director Stephen I. Katz, M.D., Ph.D., was interviewed by MedPage Today about scleroderma and cancer. The story, "Tumors May Give Rise to Autoimmunity," was published on December 19, 2013. Also in December, Dr. Katz appeared in the American Academy of Dermatology’s Member-to-Member e-newsletter feature "Budget cuts challenge researchers at NIAMS and NIH." In September, Katz spoke with the Boston Globe for the story "Boston conference tackles mystery of why we itch."

Mariana Kaplan, M.D., Chief of the newly established NIAMS IRP Systemic Autoimmunity Branch, was the subject of a story published in the December issue of Pathways, the Rheumatology Research Foundation’s e-newsletter. The piece, "Investigator Takes Focus on Patients to National Research Institute," spotlighted Dr. Kaplan’s transition to the NIH and her current research activities.

NIAMS IRP Scientific Director, John O’Shea, M.D., spoke with Arthritis Today for the November story "Will JAK Inhibitors Change Your RA Treatment?" Dr. O’Shea provided perspectives on the use of JAK inhibitors in rheumatology. In September, Dr. O’Shea was featured in the Men’s Journal write-up, "Can Too Much Salt Lead to Autoimmune Disease?"

Evelyn Ralston, Ph.D., Chief of the NIAMS IRP Light Imaging Section, participated in an October podcast for JCB Biosights. Dr. Ralston discussed her research on skeletal muscle fibers in the segment, "A framework for understanding muscle microtubules."

Upcoming Events

Look for the NIAMS exhibit at the following events between now and the June 2014 Shorttakes issue:

  • American Academy of Orthopaedic Surgeons Annual Meeting, New Orleans, LA, March 11-15
  • Orthopaedic Research Society Annual Meeting, New Orleans, LA, March 15-18
  • American Academy of Dermatology, Denver, CO, March 21-25
  • American Occupational Therapy Association, Baltimore, MD, April 3-6

NIAMS Career Development and Outreach Update. . .

In November, Robert Walker, Ph.D., Scientific Program Manager, IRP Career Development and Outreach Branch, attended the Annual Biomedical Research Conference for Minority Students in Nashville, Tennessee. At this and other events and conferences throughout the year, the NIAMS has the opportunity to increase awareness of NIH internship and training programs, and to promote career paths in biomedical research.

The 2014 NIH/NIAMS Summer Internship Program in Biomedical Research is now accepting applications via the NIH Summer Internship Program’s website. The NIAMS has already begun receiving applications for these positions. For additional information concerning research training opportunities within the NIAMS IRP, please visit the NIAMS Summer Student Program web pages.

For information on arthritis and musculoskeletal and skin diseases, including copies of NIAMS publications, contact:

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearinghouse
National Institutes of Health

1 AMS Circle
Bethesda, MD 20892-3675
Phone: 301-495-4484
Toll free: 877-22-NIAMS (877-226-4267)
TTY: 301-565-2966
Fax: 301-718-6366
Email: NIAMSinfo@mail.nih.gov
Website: https://www.niams.nih.gov

If you need more information about available resources in yourlanguage or another language, please visit our website or contactthe NIAMS Information Clearinghouse at NIAMSinfo@mail.nih.gov.

For information on osteoporosis and other bone diseases, contact:

NIH Osteoporosis and Related Bone Diseases ~ National Resource Center

2 AMS Circle
Bethesda, MD 20892-3676
Phone: 202-223-0344
Toll free: 800-624-BONE (2663)
TTY: 202-466-4315
Fax: 202-293-2356
Email: NIHBoneInfo@mail.nih.gov
Website: https://www.bones.nih.gov

If you need more information about available resources in yourlanguage or another language, please visit our website or contactthe NIAMS Information Clearinghouse at NIAMSinfo@mail.nih.gov.

For general information on NIAMS and its research programs, contact:

Office of Science Policy, Planning and Communications
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Institutes of Health

Building 31/Room 4C02
31 Center Drive, MSC 2350,
Bethesda, MD 20892-2350
Phone: 301-496-8190
TTY: 301-565-2966
Fax: 301-480-2814
Email: niamsinfo@mail.nih.gov
Website: https://www.niams.nih.gov

If you need more information about available resources in yourlanguage or another language, please visit our website or contactthe NIAMS Information Clearinghouse at NIAMSinfo@mail.nih.gov.

Compiled by the Office of Science Policy, Planning and Communications, NIAMS; phone: (301) 496-8190; e-mail: NIAMSInfo@mail.nih.gov

Last Reviewed: 02/01/2014