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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases


NIH researchers crack mystery behind rare bone disorder

Researchers have identified the genetic basis of melorheostosis, a rare bone disorder characterized by excess bone formation resembling dripping candle wax. The study found that mutations in the MAP2K1 gene were responsible for the condition, offering potential treatment targets and insights into bone development.

NIH announces network to accelerate medicines for rheumatoid arthritis and lupus

The National Institutes of Health has established an Accelerating Medicines Partnership in Rheumatoid Arthritis and Lupus (AMP RA/Lupus) Network to transform the current model for identifying promising biological targets for new drugs and diagnostics. The network will analyze interplay among biological pathways, including at the single...

NIH scientists identify gene linked to fatal inflammatory disease in children

Researchers have identified a gene linked to STING-associated vasculopathy with onset in infancy (SAVI), a devastating autoinflammatory condition. Repurposed drugs, such as tofacitinib and ruxolitinib, show therapeutic potential in laboratory studies and are currently being studied in children with the disease.

NIH scientists identify gene that could hold the key to muscle repair

Researchers at the National Institute of Arthritis and Musculoskeletal and Skin Diseases have identified a key player in muscle repair: the gene Ezh2. By activating this gene, satellite cells may proliferate and compensate for underlying defects, potentially increasing quality of life for individuals with degenerative diseases.

NIH awards Muscular Dystrophy Cooperative Research Center grants

Researchers at Nationwide Children's Hospital and two other centers will explore new treatment strategies for Duchenne muscular dystrophy, a debilitating disease affecting children and young adults. The goal is to identify existing drugs that can inhibit muscle fibrosis and develop non-invasive imaging techniques to assess muscle damage.

NIH launches second phase of patient reported outcomes initiative

The National Institutes of Health has awarded grants to further develop and test the Patient Reported Outcomes Measurement Information System (PROMIS), a tool that assesses pain, fatigue, and other aspects of quality of life in a standardized manner. The second phase of PROMIS aims to strengthen assessment of patient-reported outcomes ...

Gene expression findings a step toward better classification and treatment of juvenile arthritis

Scientists have identified gene expression patterns in children with juvenile idiopathic arthritis (JIA) that can help predict their disease outcome and guide treatment. These findings could lead to more precise classification of JIA subtypes and the development of individually tailored treatments.

Scientists discover new genetic immune disorder in children

Researchers at NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases have discovered a new autoinflammatory syndrome, DIRA, which affects children from birth to 2 weeks of age. The disorder is caused by mutations in the IL1RN gene and can be treated with anakinra, a synthetic form of human IL-1Ra.

Biomedical researchers invited to design experiments for the International Space Station

The NIH-NASA partnership aims to facilitate biomedical research on the International Space Station, addressing pressing health questions through unique microgravity conditions. Biomedical experiments will focus on bone and muscle deterioration, infectious disease, cancer growth, and more, with the goal of improving human health on Earth.

Study identifies genetic risk factor for rheumatoid arthritis, lupus

Researchers have identified a genetic risk factor for rheumatoid arthritis (RA) and lupus, with the STAT4 gene variant linked to increased disease risk in both conditions. The study suggests a shared disease pathway between RA and lupus, paving the way for potential new therapies targeting this pathway.

Study shows surgery is more effective than other treatments for common back problem

A new study shows surgery significantly improves results for patients with degenerative spondylolisthesis and spinal stenosis compared to non-surgical alternatives. Surgery provides quick relief from symptoms and improved function, especially within six weeks after the procedure.

Scientists develop method to track immune system enzyme in live animals

Researchers have created mouse strains that enable them to trace the activity of activation-induced cytidine deaminase (AID) enzyme in live animals. This breakthrough allows scientists to understand how AID regulates the immune response and its role in autoimmunity and B cell tumor development.

Molecular anatomy of influenza virus detailed

Scientists at NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases have successfully imaged the influenza virus using electron tomography, revealing five distinct types of particles. This breakthrough provides insight into the virus's structure and potential targets for vaccine development.

SourceNIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases·JournalProceedings of the National Academy of Sciences·DateDec 29, 2006

Scientists show drug can counteract muscular dystrophy in mice

Researchers demonstrate that trichostatin A can counteract muscular dystrophy in mice by promoting muscle regeneration and upregulating follistatin, a key protein involved in muscle development. Further studies are needed to determine the effectiveness of the drug in larger animals before it can be tested in humans.

Study demonstrates safety of oral contraceptives in women with lupus

A study of 183 women with inactive or stable lupus found that taking oral contraceptives had no statistically significant difference in the occurrence of flares compared to those taking a placebo. Mild-to-moderate flares and disease complications were also similar between the two groups over a 12-month follow-up.

National Institute of Arthritis and Musculoskeletal and Skin Diseases, Arthritis Foundation introduce pediatric rheumatic diseases CD-ROM

The new CD-ROM provides a wide range of resources, including patient education brochures, professional educational materials, and web links to numerous useful resources. The CD-ROM has been overwhelmingly approved by healthcare professionals, who will use it to better understand and manage childhood rheumatic diseases.

NIH launches study of hematopoietic stem cell transplantation for severe, treatment-resistant lupus

Researchers at the NIH will conduct a clinical study to assess the safety and efficacy of hematopoietic stem cell transplantation in treating severe forms of lupus. The study aims to create a new immune system that doesn't attack healthy cells, offering hope for patients with limited treatment options.