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Significant Items in House, Senate, and Conference Appropriations Committee Reports
FY 2003 Budget

February 2002 (historical)

FY 2002 House Appropriations Committee Report Language (H. Rpt. 107-229)

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Bone Disease and Cancer - Significant advances have been made in the understanding of biophosphonates in bone disease and the role of anti-angiogenesis in restricting tumor growth and malignancies. The Committee urges NIAMS to work with NCI and NHLBI to establish translational research activities to understand the role of bone involvement and tumor growth in multiple myeloma, lymphoma, breast and prostate cancer. (p. 84)

Action taken or to be taken

Bone cancers destroy bone, causing pain, decreased mobility, and ultimately skeletal fracture. A chief challenge in designing new therapies for bone cancer pain is that it is unclear what mechanisms drive this pain condition. Researchers recently have demonstrated that osteoprotegerin, a known biologic substance that inhibits bone remodeling activity, also blocks behaviors indicative of pain in animal models of bone cancer. These results demonstrate that excessive cancer-induced destruction of bone is involved in the production of bone cancer pain, and that osteoprotegerin may provide an effective treatment for this painful condition in humans. Additionally, while little is known about the progression of bone metastases secondary to malignancy, it has been shown that breast tumors release angiogenic factors that stimulate blood vessels to grow into the tumor. Tumor cell adhesion occurs in the bone marrow with invasion into the bone. Bisphosphonates not only inhibit normal bone resorption, but have been shown to prevent bone metastases. In the fall of 1999, the NIH, in collaboration with the Paget Foundation, held the Second North American Symposium on Skeletal Complications of Malignancy. A followup conference will be held in the spring of 2002.

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Duchenne Muscular Dystrophy - The Committee urges NIAMS to continue working with NINDS and the Centers for Disease Control and Prevention to identify collaborative opportunities to advance basic, clinical, and translational research into treatment for Duchenne Muscular Dystrophy. (p. 84)

Action taken or to be taken

The NIAMS is committed to stimulating and supporting research to enhance our understanding of the causes of, and potential treatments for, the various muscular dystrophies, including Duchenne muscular dystrophy (DMD). DMD is a genetic, muscle-wasting disease that is caused by mutations in the gene that codes for the protein dystrophin. The NIAMS has continued to work collaboratively with other NIH entities and outside organizations to advance research into DMD. In the spring of 2000, NIAMS staff partnered with colleagues from the National Institute of Neurological Disorders and Stroke (NINDS) and other NIH components, as well as research and patient advocacy organizations, to sponsor a scientific workshop on therapeutic approaches for DMD. As a result of the workshop, NIAMS and NINDS co-sponsored a program announcement for applications on therapeutic and pathogenic approaches for the muscular dystrophies, including DMD. NIAMS recently made a number of new awards, including one for a project designed to identify the specific immune cells involved in DMD, which may point to potential immune-based therapies. In addition, NIAMS, NINDS, and the National Institute of Dental and Craniofacial Research (NIDCR) are co-sponsoring a program announcement on the pathogenesis and treatment of inflammatory muscle disease. This program announcement was based on a spring 2000 workshop on inflammatory myopathy. In other muscular dystrophy research, the Institute has recently funded a number of new awards on facioscapulohumeral dystrophy (FSHD), the third most common genetic disease of muscle. These new projects support both basic and clinical research on FSHD. NIAMS will continue to collaborate with NINDS and other relevant NIH and Health and Human Services components to enhance research on DMD and other muscular dystrophies, using all available funding mechanisms, as appropriate.

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Ehlers-Danlos Syndrome - Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders that develop as a result of faulty collagen. Individuals with EDS often suffer from fragile skin and unstable joints. The Committee urges NIAMS to aggressively pursue basic research programs on EDS through all available mechanisms, as appropriate. (p. 84)

Action taken or to be taken

The NIAMS continues its long-standing commitment to research on heritable disorders of connective tissue, including Ehlers-Danlos syndrome (EDS). EDS is a set of conditions characterized by hyperextensibility of the skin, easy bruisability, increased joint mobility, and abnormal tissue fragility. In the fall of 2000, NIAMS, the NIH Office of Rare Diseases, the Coalition for Heritable Disorders of Connective Tissue, the March of Dimes, and the Foundation for Basic Cutaneous Research sponsored the Third Workshop on Heritable Disorders of Connective Tissue at NIH. The purpose of the workshop was to review current knowledge in heritable disorders of connective tissue and to stimulate new collaborations between researchers interested in related diseases. As a result of the conference, NIAMS issued a request for applications for basic and clinical research on heritable disorders of connective tissue. The NIAMS is also committed to developing and disseminating science-based health information for patients and families affected by heritable disorders of connective tissue, including a new "Questions and Answers" fact sheet which includes information on Ehlers-Danlos syndrome.

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Facioscapulohumeral Muscular Dystrophy - The Committee understands that NIAMS and NINDS have taken steps to begin implementation of the recommendations of the 2000 research planning conference on facioscapulohumeral muscular dystrophy (FSHD). The Committee strongly urges that research on muscle biology, muscular dystrophy in general and FSHD in particular be enhanced through all available mechanisms, as appropriate, including the development of a comprehensive research portfolio. (p. 84)

Action taken or to be taken

According to research published in the Annals of Neurology, facioscapulohumeral muscular dystrophy (FSHD) is the third most common genetic disease of skeletal muscle. NIAMS and the National Institute of Neurological Disorders and Stroke (NINDS) continue to implement the recommendations of the spring 2000 research planning conference on FSHD. Stemming from the conference was a request for applications (RFA) on exploratory research on FSHD. As a result of the RFA, the NIAMS and NINDS recently awarded six new grants to support both basic and clinical research studies on FSHD. NIAMS and NINDS are also co-sponsoring a program announcement to encourage research on therapeutic and pathogenic approaches for the muscular dystrophies, including FSHD. This program announcement was a result, in part, of the spring 2000 conference. Furthermore, NIAMS, NINDS, and the National Institute of Dental and Craniofacial Research (NIDCR) are co-sponsoring a program announcement for applications on the pathogenesis and treatment of inflammatory muscle disease. This program announcement was based on a spring 2000 workshop on inflammatory myopathy. In the fall of 2000, NIAMS and NINDS funded a national research registry for FSHD and myotonic dystrophy (DM). The long-term goal of the registry is to facilitate research into FSHD and DM by serving as a liaison between families affected by these diseases who are eager to participate in specific research projects, and investigators interested in studying these disorders. Active recruitment of patients with FSHD and DM began in the fall of 2001.

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Fibrous Dysplasia - Fibrous dysplasia is a chronic disorder of the skeleton that predominately afflicts young children and adolescents resulting in uneven growth, severe pain and deformed extremities. The cause of fibrous dysplasia is unknown although recent studies indicate that it may be caused by a chemical abnormality leading to the overgrowth of fibrous tissue in the bone. The Committee encourages NIAMS to enhance research to evaluate promising drug therapies in both pediatric and adolescent fibrous dysplasia patients through all available mechanisms, as appropriate. (p. 84)

Action taken or to be taken

Fibrous dysplasia of bone is a deforming and crippling skeletal disorder characterized by a softening and bending of bone due to failure of bony tissue to calcify. Fibrous dysplasia is a feature of complex syndromes, such as McCune-Albright, though it also occurs in contexts that are clinically distinct from McCune-Albright. Several components of the NIH support research related to fibrous dysplasia. Recently, colleagues at the National Institute of Dental and Craniofacial Research and the National Institute of Diabetes and Digestive and Kidney Diseases discovered that mutations in a protein called Gs-alpha are involved in McCune-Albright syndrome, as well as other conditions. Basic biology researchers are now beginning to study the function of Gs-alpha in the skeleton, and the NIAMS currently supports two such projects. One is using genetically altered mice to explore the role of Gs-alpha in mediating signals that control the growth of cartilage and bone. The second is studying patients with progressive osseous heteroplasia, which includes a component of fibrous dysplasia, to test the hypothesis that the disease is caused by mutations in the gene for Gs-alpha. Insights from these studies may lead to better therapies for patients affected by fibrous dysplasia.

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Lupus - Lupus is an autoimmune disease that mainly affects women of child-bearing age, can lead to severe organ injury, and the treatment is often as devastating as the disease. Women of color, especially African-Americans, are three times more likely to have lupus than Caucasian women. Recent research developments are very encouraging and give promise to new scientific opportunities for the study of lupus. The Committee encourages NIAMS to enhance research efforts that would increase understanding of the factors associated with the high prevalence of lupus in women and people of color. The Committee also encourages NIAMS to enhance research efforts at developing new and innovative treatments that are safer and more effective. (p. 85)

Action taken or to be taken

Because lupus occurs with higher frequency in African Americans and Hispanics, it is a key area in NIAMS' focus on health disparities. The Institute's intramural research program has recently begun a study to increase our understanding of the progression and natural history of rheumatic diseases such as lupus in minority communities. Intramural scientists are also examining the impact of Thundergod vine, a Chinese herb, on patients with autoimmune diseases such as lupus. In addition, the Institute partnered with the National Medical Association (NMA) to present a plenary discussion at the NMA's 2001 Annual Convention and Scientific Assembly on the impact of lupus in the African American community. This session was designed to explore all aspects of lupus as it relates to bench-to-bedside research, including genetics, clinical aspects, pregnancy, outcomes of lupus, and lupus and cardiovascular disease. To improve communication about lupus, the NIAMS recently published The Many Shades of Lupus: Information for Multicultural Communities. This booklet, geared toward patients and their families, provides practical information about lupus signs and symptoms, disease management, and current research.

In the Institute's extramural program, we continue to support the Safety of Estrogen in Lupus Erythematosus National Assessment (SELENA) study as part of our efforts to better understand gender differences in SLE. This project examines the effects of hormone replacement therapy on lupus activity in postmenopausal women, and studies the effects of oral contraceptives on lupus disease activity. In the next few years, researchers will determine the effects of oral contraceptives on osteoporosis and coronary artery disease, two major complications of SLE. Genetic research on lupus is also yielding new information about the genes involved in the development and complications of this chronic disease. The NIAMS continues to support this research through the Lupus Registry and Repository, which aims to explain the complex genetics of lupus.

In the winter of 2002, the NIAMS sponsored a scientific conference on new targets for lupus therapeutics. The conference encouraged the exchange and integration of scientific information among scientists working in disparate areas of lupus and help identify novel strategies for clinical intervention. In addition, the Institute recently funded a new multidisciplinary clinical research center to study cardiovascular disease in rheumatic conditions, including lupus. Cardiovascular disease is a major complication for people with lupus, and African Americans in particular are at greater risk for both diseases separately and as combined illnesses. Researchers will evaluate the effects of aggressive therapy in preventing cardiovascular complications in people with lupus in an effort to develop an effective disease management program. Finally, the Institute has recently released a solicitation for applications on neuropsychiatric lupus, in an effort to stimulate additional study of the neurological and psychiatric syndromes associated with this chronic disease, including cognitive, behavioral, affective and motor manifestations.

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Marfan Syndrome - The Committee commends NIAMS for its support of research on heritable disorders of connective tissue, which includes Marfan syndrome and for co-sponsoring the Third Workshop on Heritable Disorders of Connective Tissue. The Committee urges NIAMS and other appropriate Institutes to enhance its research efforts on Marfan syndrome through all available mechanisms, as appropriate, including the establishment of research centers to coordinate basic research enabling studies to be rapidly translated into advances in patient care. (p. 85)

Action taken or to be taken

Marfan syndrome is a heritable condition that affects the connective tissue. Individuals with Marfan syndrome tend to have excessively long bones and are thin. Other manifestations include skeletal malformations, abnormal position of the lens of the eye, and enlargement at the beginning part of the aorta, the major vessel carrying blood away from the heart. If left untreated, an enlarged aorta can lead to hemorrhage and even death. This disorder results from mutations in the gene that makes fibrillin-1, a major component of elastic fibers surrounding blood vessels. NIAMS-supported studies on tissue analysis of mouse models recently refined our understanding of what leads to vascular disease in Marfan syndrome. Furthermore, as a result of the Third Workshop on Heritable Disorders of Connective Tissue, held in the fall of 2000, NIAMS issued a request for applications for basic and clinical research on heritable disorders of connective tissue. The NIAMS is also committed to disseminating science-based health information for patients and families affected by connective tissue disorders. To this end, the NIAMS has recently developed a "Questions and Answers" booklet on Marfan syndrome, as well as a booklet on heritable disorders of connective tissue, including information on conditions such as Marfan syndrome.

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Osteogenesis Imperfecta - The Committee encourages NIAMS to continue its research efforts into gene and cell therapies and drug treatment for osteogenesis imperfecta (OI) and active followup of new research opportunities arising out of the 2001 NIH workshop on OI through all available mechanisms, as appropriate. The Committee also encourages NIAMS, in collaboration with NHLBI, to investigate respiratory and cardiovascular problems associated with OI. (p. 85)

Action taken or to be taken

Osteogenesis Imperfecta (OI) is a genetic disorder characterized by brittle bones that result in frequent fractures from little or no trauma. The Osteogenesis Imperfecta Foundation estimates that OI affects 20,000 to 50,000 adults, children, and infants in the United States. Most often, the underlying cause is a defect in the gene that regulates the production of collagen, which is essential for the normal structure of bone. Milder forms of the disease reflect the failure of bone cells to synthesize normal amounts of collagen. More severe forms arise from mutations that alter the structure of the collagen itself, leading to abnormal interactions between the mutant collagen and other components of bone. The respiratory and cardiovascular consequences of OI are the result of spinal deformity and fractures. Although surgical procedures may alleviate the respiratory and cardiovascular problems to some degree, the focus of research continues to be on the fundamental skeletal pathology.

The NIAMS continues to collaborate with other NIH components on OI research. The NIAMS sponsored a scientific workshop in the fall of 1999 on OI. In followup to that conference, NIAMS was joined by the National Institute on Aging (NIA) and the National Institute of Child Health and Human Development (NICHD) in issuing a request for applications (RFA), entitled "New Research Strategies in Osteogenesis Imperfecta," in the winter of 2000. The objective was to stimulate and support new research projects that have the potential to increase our understanding of the skeletal pathology in OI. Subsequently, research on OI received a boost from the recent award of a number of new grants by the NIAMS and the NIH. The grants support research activities ranging from cutting-edge gene and cell therapies to testing drug treatments in mouse models. Also, a new RFA has been issued, as a result of the Third Workshop on Heritable Disorders of Connective Tissue, which was held at the NIH in the fall of 2000, to encourage additional research on conditions such as OI.

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Osteoporosis - The Committee encourages NIAMS to continue to work with NHLBI in investigating the basic and clinical relationship between cardiovascular diseases and osteoporosis. The Committee also encourages NIAMS to enhance research through all available mechanisms, as appropriate, to study osteoporosis in non-white women as well as to understand the genetic predisposition for osteoporosis in certain populations. (p. 85)

Action taken or to be taken

Osteoporosis is a metabolic bone disease characterized by low bone mass, which makes bones fragile and susceptible to fracture. Several studies have reported an association between low bone mass and cardiovascular disease. The NIAMS has joined the National Heart, Lung, and Blood Institute (NHLBI) in order to evaluate the relationship between cardiovascular disease and osteoporosis. In September 1999, the NIAMS and NHLBI convened a working group to examine the evidence suggesting that there are connections between cardiovascular disease and osteoporosis. The epidemiological, mechanistic, and pharmacological aspects of the relationship between the two areas of research are of particular interest. Therefore, in the winter of 2001, the NIAMS and NHLBI published a request for applications soliciting research that integrates new information on bone formation and calcification in cardiovascular disease. The objective of this initiative was to stimulate research that addresses the pathophysiologic and molecular mechanisms of vascular calcification, and the possible links between vascular calcification, bone formation and cardiovascular disease. Several awards were made recently for applications received in response to this solicitation. Examples of research areas include genetic regulation, lipid regulation of bone formation and vascular calcification, the role of vitamin K in both processes, and exploring common mediators.

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Paget's Disease - The Committee is aware of the importance of research on the viral and genetic factors that may cause Paget's disease and encourages NIAMS to enhance efforts in this area through all available mechanisms, as appropriate, including the development of animal models. (p. 85)

Action taken or to be taken

Paget's disease is a chronic disorder that typically results in enlarged and deformed bones. The excessive breakdown and formation of bone tissue that occurs in Paget's disease can cause bone to weaken, resulting in bone pain, arthritis, deformities, and fractures. The NIAMS continues to support a number of projects investigating the viral and genetic factors contributing to Paget's disease. For example, current research is working toward the development of an animal model of Paget's disease by introducing viruses or expressing viral genes in mice. Genetic research has linked Paget's disease to chromosome 18q, and through numerous grant awards from the NIAMS, researchers are investigating the possibility of the involvement of multiple genes in the predisposition to the disease. Also, several researchers are investigating the occurrence of osteosarcoma in patients with Paget's disease - as well as in individuals not affected by Paget's - in order to evaluate the presence of a genetic link. Osteosarcomas are believed to result from a series of genetic alterations which transform osteoblasts, cells that build up bone, into a malignant state. Research addressing a genetic link between pagetic osteosarcoma and sporadic osteosarcoma will enhance the future development of treatments for both diseases.

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Psoriasis - Psoriasis is a genetically-acquired immune-mediated disease of the skin and joints that affects over seven million Americans. In its most severe forms, patients may have psoriatic lesions covering widespread areas of the body, swollen joints, extreme physical and emotional pain and a diminished quality of life. The Committee urges NIAMS to enhance research in this area through all available mechanisms, as appropriate, including conducting a scientific workshop to assess basic and clinical research in psoriasis, especially prospects for innovative therapeutic approaches for moderate to severe forms of the disease, and support for a comprehensive public awareness and education program on the best available treatments for moderate and severe psoriasis. (p. 85)

Action taken or to be taken

Psoriasis is a common and chronic skin disease characterized by scaling and inflammation, affecting millions of Americans, including people of all ages. The NIAMS continues to support psoriasis research to improve our understanding of the disease and develop more effective treatments. NIAMS-supported scientists recently evaluated the efficacy of a new topical vitamin D derivative and found a significant decrease in psoriasis severity. New treatments for psoriasis, including cyclosporine A and other therapies, work by modulating immune system function. Progress is also being made in identifying genes linked to psoriasis. Scientists have determined that, at least in some forms of hereditary psoriasis, there is a linked gene located on chromosome 17q. Once the specific genes for psoriasis have been isolated and their products determined, greater insights into the disease process will be available. This can be expected to open new avenues for intervention and improve treatment for psoriasis. The NIAMS is planning a workshop on immune-modulation in the treatment of skin diseases, which would include new treatments for psoriasis. The NIAMS is also updating its comprehensive health education booklet on psoriasis, which was developed with outside experts as well as the National Psoriasis Foundation, to reflect the latest treatments for and research on the disease.

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Scleroderma - Characterized by hardening of the body's connective tissue, scleroderma is a chronic, debilitating disease that is fatal in its worst forms. With improvements in diagnostics, prevalence and incidence of scleroderma is growing, as is the death rate for this disease. The Committee urges NIAMS to aggressively pursue basic research programs on scleroderma. (p. 86)

Action taken or to be taken

Scleroderma refers to a group of diseases that involve the abnormal growth of connective tissue, which supports the skin and internal organs. Scleroderma may affect only the skin, making it hard and tight, or it may also damage the blood vessels and internal organs, such as the heart, lungs, and kidneys. In followup to a fall 2000 request for applications, NIAMS and the Office of Research on Women's Health recently awarded ten grants that will explore the progression of scleroderma and new therapeutic approaches. The Institute is also supporting the development of a national scleroderma family registry and DNA repository. The overall objective is to identify genes that influence susceptibility to scleroderma.

NIAMS currently supports two specialized centers of research in scleroderma, where scientists have found that connective tissue cells called fibroblasts may contribute to scleroderma, and that there appear to be both genetic and environmental factors that influence disease susceptibility and progression. One of these centers, recently funded through a special solicitation, is conducting research on the biological processes that cause the progression of scleroderma. Gaining a better understanding of these biological processes could lead to new treatment approaches. Furthermore, in addition to funding a number of projects on autoimmunity and autoimmune diseases such as scleroderma, NIAMS has recently published a health booklet on scleroderma intended for the public, affected patients, and their families.

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Sjogren's Syndrome - The Committee is pleased that NIAMS has published a booklet on Sjogren's syndrome, which is a common, systemic, autoimmune disease affecting the musculoskeletal system and many body organs. The Committee encourages NIAMS to enhance efforts through all available mechanisms, as appropriate, including scientific workshops, research grants and inclusion in autoimmune databases. (p. 86)

Action taken or to be taken

Sjogren's syndrome is an autoimmune disease in which the immune system targets moisture-producing glands and causes dryness in the mouth and eyes. The disease can affect other glands as well, such as those in the stomach, pancreas and intestines, and can cause dryness in other places that need moisture, such as the nose, throat, airways, and skin. Patients with Sjogren's syndrome often experience dry skin, skin rashes, and joint and muscle pain, among other symptoms. The NIAMS supports several research projects on Sjogren's syndrome, including studies to better understand the molecular basis of immune system abnormalities in diseases such as Sjogren's, and investigations to identify genes that govern the propensity to develop autoimmunity. These efforts should lead to the development of more effective therapies.

The Institute is also committed to developing and disseminating science-based health information on Sjogren's syndrome and other autoimmune diseases. To this end, NIAMS recently developed fact sheets in Spanish on "El Síndrome de Sjögren," to complement the English version of this publication. Sjogren's syndrome is also included in key patient and health education databases with which NIAMS is involved, including the Combined Health Information Database and MedlinePlus.

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Skin Diseases - The Committee encourages NIAMS to enhance efforts to identify existing information sources on the costs and scope of skin diseases and to recommend strategies for developing new information sources through all available mechanisms, as appropriate, including sponsoring a workshop. NIAMS is encouraged to collaborate with CDC, AHRQ, HRSA as well as skin disease researchers and voluntary health organizations. (p. 86)

Action taken or to be taken

The NIAMS recognizes the importance of determining the economic burden of skin diseases and is committed to identifying sources of reliable data pertaining to the incidence of skin diseases in the United States. Therefore, the NIAMS is organizing a workshop, to be held in late 2002, to address such issues. The Institute will conduct the workshop in collaboration with other Public Health Service components, as appropriate, including CDC, AHRQ, and HRSA.

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Tissue Engineering - The Committee commends NIAMS for its ongoing work in advancing the science of tissue engineering, acknowledging in particular the potential future benefits such research will have for burn victims and diabetics. The Committee urges NIAMS to continue to review the benefits of utilizing naturally derived biopolymer materials as a medium for tissue scaffolds. (p. 86)

Action taken or to be taken

Tissue engineering is an interdisciplinary field that combines information from the study of biological structures and their functions with physics, mathematics, chemistry, and engineering for the generation of new materials, tissues, and organs. The fruits of any advances in this field should benefit all of the NIAMS' areas of research, as well as areas in other NIH Institutes. The NIH has a long history of collaborative efforts in the field of tissue engineering. The goal of these cooperative initiatives is to further the design and engineering of natural and novel approaches for the repair, restoration, and replacement of tissues and whole organs based on a scientific understanding of biological structures and their functions.

A form of tissue engineering which shows great promise is aimed at repairing damaged articular cartilage. Insufficiency of natural tissue repair is common, resulting in fractures failing to bond, wounds failing to heal, and persistent joint dysfunction. As an outgrowth of the NIH Bioengineering Consortium "2001 Symposium on Reparative Medicine: Growing Tissues and Organs," and out of a continued interest in and support of musculoskeletal engineering research, the NIAMS was joined by the National Institute of Child Health and Human Development (NICHD) and the National Institute of Dental and Craniofacial Research (NIDCR) in issuing a program announcement entitled "Functional Tissue Engineering of Musculoskeletal Tissue." Projects which are funded as a result of this announcement will complement awards that support Bioengineering Research Partnerships and Bioengineering Research Grants. In addition, the NIAMS is pursuing future partnership opportunities with colleagues in the newly formed National Institute of Biomedical Imaging and Bioengineering as a means of initiating further studies in this area. Finally, within the Institute's intramural program, efforts are underway to establish a tissue engineering research program focused on osteoarthritis, a degenerative joint disease that is the most common type of arthritis.

FY 2002 Senate Appropriations Committee Report Language (S. Rpt. 107-84)

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Behavioral and social science research - The Committee notes that the portion of the NIAMS research portfolio devoted to behavioral and social sciences research is significantly lower than the NIH average. Therefore, the Committee urges the NIAMS to fund promising behavioral social sciences research. Additionally, the Committee urges favorable consideration of research in the area of behavioral and social science factors relating to the adherence to medical recovery regimes, exercise and weight-reduction programs. (p. 155)

Action taken or to be taken

The NIAMS is strongly committed to supporting promising research in the behavioral and social sciences, and has been increasing its emphasis in this area both within the Institute and in our collaborations with other NIH components. In the fall of 2000, the NIAMS created a new extramural program in behavioral and prevention research, and hired a behavioral scientist to lead this program. Several behavioral research initiatives are expected to emerge from this program within the next two years. In addition, the Institute has recently released a solicitation for applications on neuropsychiatric lupus, in an effort to stimulate additional study of the neurological and psychiatric syndromes associated with this chronic disease, including cognitive, behavioral, affective and motor manifestations.

The NIAMS has also recently teamed with NIH colleagues on numerous behavioral and social science-related initiatives. These initiatives include: a program announcement to develop a better understanding of how social and physical environment factors interact to impoverish the health of racial and ethnic minorities; a program announcement initiated by the Office of Research on Women's Health to encourage researchers to return to biomedical and behavioral research careers after taking time from work to attend to family responsibilities; initiatives aimed at developing a better understanding of the behavioral and social aspects of chronic disease; and solicitations on the placebo effect, the social and cultural dimensions of health, and the links between immune function, brain function, and behavior. The Institute expects these efforts to result in an enhanced level of support for behavioral and social science research relevant to rheumatic, musculoskeletal, and skin diseases.

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Duchenne Muscular Dystrophy - The Committee is aware of past collaboration between NIAMS and NINDS to intensify and enhance muscle disease research. The Committee urges NIAMS to continue working closely with NINDS to identify collaborative opportunities to advance basic, clinical, and translational research into treatment for Duchenne muscular dystrophy. The Committee has urged NINDS to establish centers of excellence for basic and applied research in the muscular dystrophies. The Committee urges NIAMS to coordinate with NINDS and the Centers for Disease Control and Prevention on the planning and activities for these centers. (p. 155)

Action taken or to be taken

Please refer to page NIAMS-32 of this document for NIAMS' response to this significant item regarding Duchenne muscular dystrophy.

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Economic burden of skin diseases - The Committee is aware of the lack of information regarding the overall economic burden of skin diseases for the nation, as well as the lack of reliable data on how many individuals in the United States are affected by these diseases. The Committee, therefore, encourages the NIAMS, in conjunction with other PHS components, including NCHA, CDC, AHRQ, and HRSA, to sponsor a workshop to identify existing information sources on the costs and scope of skin diseases, and to recommend strategies for developing new information sources. The Institute is encouraged to work with skin diseases researchers and voluntary health organizations to plan the workshop. (p. 155)

Action taken or to be taken

Please refer to page NIAMS-41 of this document for NIAMS' response to this significant item regarding the economic burden of skin disease.

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Ehlers-Danlos syndrome - Ehlers-Danlos syndrome (EDS) is a family of genetic disorders whose manifestations include, but are not limited to, the skin, joints and other components of the connective tissue. EDS is potentially a model for a number of more common medical and biological problems stemming from genetic acquired connective tissue defect. The Institute is encouraged to provide greater funding for continued research of this disease. (p. 156)

Action taken or to be taken

Please refer to page NIAMS-33 of this document for NIAMS' response to this significant item regarding Ehlers-Danlos syndrome.

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Fibrous dysplasia - Fibrous dysplasia is a chronic disorder of the skeleton that predominantly afflicts young children and adolescents, resulting in uneven growth, severe pain, and deformed extremities. Given the long-term implications of this disorder on both children and adults, the Committee sees the need for a targeted research effort to evaluate promising drug therapies. NIAMS is encouraged to support such research at an institution with a large population of both pediatric and adolescent fibrous dysplasia patients, as well as a staff of orthopedic and endocrinology specialists qualified to conduct this research. (p. 156)

Action taken or to be taken

Please refer to page NIAMS-35 of this document for NIAMS' response to this significant item regarding Fibrous dysplasia.

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Osteogenesis imperfecta - Osteogenesis imperfecta (OI) is a genetic disorder characterized by frequent fractures from little or no trauma. The Committee commends the effort NIAMS has made to encourage and fund osteogenesis imperfecta research and recommends that osteogenesis imperfecta continue to be an area of special emphasis in the Institute. NIAMS and NHLBI are urged to investigate respiratory and cardiovascular problems associated with OI. The Committee also encourages NIAMS to continue its strong support of research into gene therapies and drug treatment for OI, and to continue its active followup of new research opportunities arising out of the 2001 NIH workshop on OI. (p. 156)

Action taken or to be taken

Please refer to page NIAMS-37 of this document for NIAMS' response to this significant item regarding osteogenesis imperfecta.

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Osteoporosis and related bone diseases - The Committee recognizes that osteoporosis and related bone diseases are a major public health problem that exacts an enormous human and economic toll. The Committee commends the National Resource Center for its role in providing patients, health professionals and the public with access to resources, and encourages the Center to increase prevention and treatment efforts. The Committee encourages NIAMS to devote additional resources to studying osteoporosis in non-white women, as well as understanding the genetic predisposition of osteoporosis in certain populations. Moreover, given the large number of individuals affected by this disease, NIAMS is urged to focus on therapies to improve quality of life and to reduce the subsequent risk of fractures. The Committee encourages NIAMS to continue to work with NHLBI to investigate the basic and clinical relationship between cardiovascular diseases and osteoporosis. (p. 156)

Action taken or to be taken

Please refer to page NIAMS-38 of this document for NIAMS' response to this significant item regarding osteoporosis.

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Paget's disease - The Committee is aware of the importance of research on the viral and genetic factors that may cause Paget's disease, and it encourages NIAMS to enhance efforts in this area as well as research to develop animal models for Paget's disease. (p. 156)

Action taken or to be taken

Please refer to page NIAMS-38 of this document for NIAMS' response to this significant item regarding Paget's disease.

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Pediatric rheumatoid arthritis - The Committee commends the NIAMS for its growing support of research and training activities to better understand childhood rheumatic diseases, including pediatric rheumatoid arthritis. The Committee is especially pleased with the continued operation of the Pediatric Rheumatology Clinic, which opened on the NIH campus in the Fall of 2000. The Committee is also pleased to learn that, through research at an NIAMS-supported Multipurpose Arthritis and Musculoskeletal Diseases Center, the drug Etanercept has recently been shown to be a safe and effective drug in the treatment of children and teenagers with pediatric rheumatoid arthritis. The Committee appreciates the Institute's emphasis on pediatric rheumatic diseases in recent research solicitations. The Committee understands that the Institute's pediatric rheumatoid arthritis registry has been expanded to include a major emphasis on a genome-wide search for susceptibility genes and strongly urges the Institute to continue its research into the genetic factors as well as infectious triggers of the disease. (p. 157)

Action taken or to be taken

The NIAMS recognizes that juvenile forms of arthritis can pose different challenges than adult disease. In an effort to address some of these unique issues, the Institute's intramural research program opened the first-of-its-kind NIH Pediatric Rheumatology Clinic in the summer of 2000, which is staffed by physicians from the NIAMS and the National Institute of Allergy and Infectious Diseases (NIAID). In addition to providing diagnosis, evaluation, and treatment of juvenile arthritis and other rheumatic diseases, the clinic facilitates the translation of research advances to improve patient care. A new study underway at the clinic is designed to determine the best medication combinations for treating children with juvenile rheumatoid arthritis. Because the chronic inflammation associated with this disease affects children's growth and development, researchers hope this study will point to anti-inflammatory drug treatments which minimize the adverse effects of drugs on growth and development.

In related efforts, the NIAMS is actively engaged with the Pediatric Rheumatology Research Network (PRRN), designed to foster cooperation among researchers in pediatric rheumatology and currently in the early stages of organization. Members of the network, with support from the NIAMS, are already in the planning stages of two clinical trials in pediatric diseases. Potential roles of the NIAMS intramural program include scientific collaborations involving patient evaluation, imaging studies, genetic analysis, specialized treatment interventions, training of extramural clinicians and investigators, and the development of resources such as gene chips or SNP maps.

In a major treatment advance, clinical trial results from an Institute-funded research center have shown that Enbrel® (etanercept) is a safe and effective drug for children and teenagers with juvenile rheumatoid arthritis (JRA). Scientists are continuing to make improvements in treating juvenile arthritis and to find new and better medicines with fewer side effects. For example, researchers are studying the long-term effects of using methotrexate in children. The Institute is also supporting a multidisciplinary clinical research center where scientists focus on pediatric rheumatic diseases such as JRA, childhood-onset dermatomyositis, and juvenile fibromyalgia.

The Institute recently funded a new core center to strengthen our understanding of the causes of, and to find novel approaches for treating, pediatric rheumatic diseases. The center consists of five components, including a repository to make tissues available to researchers; magnetic resonance imaging (MRI) to monitor disease progression; identification of cells involved in rheumatic diseases; data processing and bioinformatics; and administrative support to coordinate project activities.

Furthermore, the Institute funds a research registry for juvenile rheumatoid arthritis, which serves as a national resource for scientists studying pediatric rheumatic diseases, including juvenile forms of arthritis. Finally, the NIAMS is committed to disseminating science-based health information for patients and families affected by juvenile arthritis. To this end, the Institute has recently updated its "Questions and Answers" fact sheet on juvenile rheumatoid arthritis.

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Psoriasis - Psoriasis is a genetically acquired immune-mediated disease of the skin and joints that affects over 7 million Americans. The Committee encourages NIAMS to conduct a scientific workshop to assess basic and clinical research in psoriasis, especially prospects for innovative therapeutic approaches for moderate to severe forms of the disease. The Committee urges the Institute to collaborate with patient organizations, medical specialty societies, and other interested parties in the development of this workshop. NIAMS is further urged to work with these partners through all available mechanisms to support a public awareness and education program on the best available treatments for moderate and severe psoriasis. (p. 157)

Action taken or to be taken

Please refer to page NIAMS-39 of this document for NIAMS' response to this significant item regarding Psoriasis.

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Sjogren's syndrome - The Committee is pleased that the NIAMS has published a booklet on Sjogren's syndrome, providing an important means of educating people about this common autoimmune disease. The Committee encourages the Institute to do more for this disease, including holding scientific workshops, providing grant monies, and including Sjogren's in autoimmune databases. (p. 157)

Action taken or to be taken

Please refer to page NIAMS-40 of this document for NIAMS' response to this significant item regarding Sjogren's syndrome.

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Temporomandibular joint disorders (TMJ) - The Institute is urged to increase research on unique features of the temporomandibular joint as well as exploring to what extent TM disorders share common pathogenic mechanisms with fibromyalgia and osteoarthritis. (p. 156)

Action taken or to be taken

Temporomandibular joint disorders (TMD) are of interest to NIAMS since they can involve muscle pain, dislocation, and degeneration of the jaw joint. Independently and in cooperation with the National Institute of Dental and Craniofacial Research and other NIH components, NIAMS is participating in multipronged efforts to combat these disorders by supporting basic and clinical research. For example, the Institute supports a research project comparing autonomic stress reactivity in patients with TMD, people with fibromyalgia, and nonaffected individuals. NIAMS also supports a tissue-engineering study involving cell function and mechanical loading in the temporomandibular joint.

Earlier this year, the NIAMS launched a major research initiative to help find biological markers for the progression of osteoarthritis (OA), a degenerative joint disease. This initiative - which represents a novel public-private partnership involving several HHS components, as well as a number of pharmaceutical companies - will also study the link between OA and a history of orofacial pain. Finally, the Institute has joined with other NIH components in issuing program announcements (PAs) to encourage grant applications in areas such as bioengineering, receptors and signaling in bone health and disease, and management of chronic pain. These and other solicitations are open to researchers on TMD.

FY 2002 Conference Committee Report Language (H. Rpt. 107-342)

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Eosinophilia-myalgia syndrome -- Eosinophilia-myalgia syndrome is a multi-systemic disorder that was first recognized in 1989. The conferees encourage NIAMS to enhance research efforts to identify the cause of this disease and develop a better understanding of the characterization of pathophysiological events leading to the chronic phase of the disease.

Action taken or to be taken

Eosinophilia-myalgia syndrome (EMS) is a rheumatic condition which leads to inflammation and thickening of the skin and fascia, the lining tissue under the skin. Individuals with EMS often experience debilitating muscle pain, as well as progressive hardening of the skin surface. An intense infiltration of muscle and other tissues by eosinophils, a type of white blood cell, is characteristic of this disease. Several components of the NIH support research on the eosinophil structure, function, and role in disease. Many currently funded projects focus on the mechanisms directing locomotion, adhesion, and migration of eosinophils in organs and tissues such as the lungs and muscle. The role of these cells in other immunoinflammatory conditions, such as asthma and parasitic infections, may provide clues to the mechanism of disease in EMS.

At present, the NIAMS does not support any projects specifically looking at EMS, but the Institute is funding considerable research on diseases with symptoms similar to those present in EMS patients. For example, changes in the skin associated with EMS resemble those seen in the early stages of scleroderma, a group of diseases that involve the abnormal growth of connective tissue. Work supported by the NIAMS is focused on the investigation of early signals that induce edema of the vascular wall, the migration of white cells to the skin, and the role of different cell types in the production of mediators of skin edema and inflammation. Insights from these studies may have implications for EMS.