The NIAMS Intramural Research Program (IRP) studies a vast portfolio of common and rare diseases under the NIAMS mission. These recent scientific advances bring attention to the rare diseases, the rise of novel findings from cutting-edge investigative biomedical research, and their impact on treatment.
NIAMS Scientific Advances
TRANSLATIONAL
As People With Vasculitis Get Older, They Acquire Blood Cell Mutations That May Cause Inflammation
Clonal hematopoiesis is a term to describe a process where healthy individuals acquire genetic mutations in their blood cells later in life. Cells that carry these mutations promote inflammation, which increases risk of death due to cardiovascular disease.
Autoimmunity
Clinical Research
Computational Biology
Genetics and Genomics
Immunology
CLINICAL
Younger People With Merkel Cell Carcinoma Often Carry Genetic Risk Factors for Other Cancers
Merkel cell carcinoma is an aggressive skin cancer that occurs when nerve-like cells that produce hormones (called neuroendocrine cells) grow out of control. The disease is rare in people under age 50. Genetic screenings of people with early onset Merkel cell carcinoma show that 19 percent had well-described variants in genes associated with an increased likelihood of cancer development.
Cancer Biology
Computational Biology
Skin Biology
CLINICAL
Children With Autoimmune Muscle Disease Who Have Certain Autoantibodies in Their Blood Are More Likely to Have Severe Disease
Testing for MAA may be clinically useful in children with myositis. Given the association between MAA and severe disease, children with myositis who have one or more MAA types may need to receive more aggressive treatment than those without these autoantibodies.
Clinical Research
Immunology
Muscle Biology
TRANSLATIONAL
Automated Method Efficiently and Accurately Assesses Neutrophil-based Structures Involved in Health and Disease
Neutrophils are essential first responders in the immune system, playing a significant role in various diseases. This method will be helpful in neutrophil-targeted drug development by offering real-time, high-throughput screening.
Autoimmunity
Cell Biology
Clinical Research
Immunology
Molecular Biology and Biochemistry
Systems Biology
CLINICAL
Ruxolitinib Cream Improves Skin Rash in Juvenile and Adult Dermatomyositis
This case report is the first description of topical ruxolitinib—a JAK inhibitor—improving skin rash in two patients with JDM or DM who did not improve with other treatments.
Autoimmunity
Clinical Research
Immunology
Muscle Biology
CLINICAL
Diversity of Staphylococci on Human Skin Characterized at Sites Across the Body
Findings from this study provide additional knowledge about the different species and subspecies of staphylococci that live on the human skin and how these different types of bacteria have adapted to varied skin areas.
Clinical Research
Computational Biology
Microbiology and Infectious Diseases
Skin Biology
CLINICAL
Mobility Is Money
New research from NIAMS and NIAID indicates that preventive medicine and musculoskeletal interventions have important economic benefits. Using decades of data on health and income, researchers showed that faster walking speeds and mobility are strongly associated with higher income.
Cell Biology
Molecular Biology and Biochemistry
BASIC
PACCE Is a Novel Method for Using Mass Spectrometry to Identify Cellular Proteins That Bind RNA
RNA binding proteins (RBPs) are a large and diverse class of proteins. They are encoded by more than 1,500 genes in humans. RBPs control every aspect of RNA metabolism and posttranscriptionally regulate gene expression. However, identifying RBPs is challenging because many of them lack clearly identifiable features and are involved in processes not necessarily thought to be RNA related, such as metabolism (all the chemical changes that occur in a cell to break down a molecule).
Genetics and Genomics
Molecular Biology and Biochemistry
RNA Biology
Systems Biology
BASIC
The Transcription Factor STAT4 Controls the Fate of Cytotoxic Innate Lymphocytes
During the intestinal inflammatory response STAT4 regulates transcriptional activity in ILC1 and NK cells.
Cell Biology
Immunology
Molecular Biology and Biochemistry
CLINICAL
Genetic Variants of PLCG2 Cause Immune Dysregulation Through Either Increased or Decreased Function
The study reports genotypic and phenotypic associations with functional variation in PLCG2.
Autoimmunity
Genetics and Genomics
CLINICAL
The Microbiomes of People with Recombination-Activating Gene (RAG) Deficiency Have Distinct Features, Including Antimicrobial Resistance Signatures
The study characterizes the colonization of eukaryotic RNA viruses in RAG-deficient patient population and also demonstrates the importance of these patients as potential reservoirs of viral persistence and evolution.
Clinical Research
Computational Biology
Genetics and Genomics
Microbiology and Infectious Diseases
Skin Biology
TRANSLATIONAL
Neutrophil Extracellular Traps (NETs) Trigger Pathogenic Inflammation and Bone Loss in Periodontitis
Neutrophil Extracellular Traps (NETs) cause bone destruction in periodontitis lesions by triggering the IL-17/Th17 response.
Autoimmunity
Cell Biology
Clinical Research
Immunology
Molecular Biology and Biochemistry
Systems Biology
TRANSLATIONAL
Possible Mechanism of a Rare Bone Overgrowth Disease Identified
Modifying the activity of VEGF (a known stimulator of osteoblastogenesis) could be a promising treatment pathway for rare bone diseases.
Cell Biology
Epidemiology
Genetics and Genomics
Molecular Biology and Biochemistry
Stem Cell Biology
CLINICAL
Bone Health Is Improving in the U.S.
This study suggests that bone health is improving in later generations due to reduced smoking rates and increased activity levels.
Cancer Biology
Epidemiology
Genetics and Genomics
Molecular Biology and Biochemistry
Stem Cell Biology
CLINICAL
Early Treatment Helps Reduce Long-Term Complications in Children with Job’s Syndrome
Early diagnosis and interventions have improved the quality of life for STAT3DN patients.
Clinical Research
Computational Biology
Genetics and Genomics
Microbiology and Infectious Diseases
Skin Biology
CLINICAL
Early-Onset Rash in Children with APECED Syndrome Accelerates Diagnosis
The modified clinical algorithm allows for faster diagnosis and treatment of children with APECED syndrome.
Clinical Research
Computational Biology
Genetics and Genomics
Microbiology and Infectious Diseases
Skin Biology
TRANSLATIONAL
Proteins Found in Urine Might Provide a Better Understanding of Juvenile Dermatomyositis
The study reports the use of urine as a biomarker source for JDM.
Autoimmunity
Clinical Research
Computational Biology
Immunology
Muscle Biology
CLINICAL
Mitochondria Contribute to Consequences of Giant Cell Arteritis
According to the study, new therapeutic interventions for GCA could be possible by targeting key drivers of mitochondrial extrusion and/or clearance.
Autoimmunity
Clinical Research
Computational Biology
Epidemiology
Genetics and Genomics
Immunology
CLINICAL
VEXAS Syndrome Can Cause Symptoms in the Eyes
A physician should be aware of the ophthalmological effects of autoinflammatory diseases, particularly this new entity called the VEXAS syndrome.
Autoimmunity
Clinical Research
Computational Biology
Epidemiology
Genetics and Genomics
Immunology
CLINICAL
Inflammatory Pathways Are Activated in VEXAS Hematopoietic Stem Cells
According to the report, mutations of UBA1 in hematopoietic stem cells appear to cause abnormal inflammation and myeloid predominance in VEXAS syndrome.
Autoimmunity
Clinical Research
Computational Biology
Epidemiology
Genetics and Genomics
Immunology
BASIC
Upregulation of the Protein Amphiregulin Protects Against Pressure Ulcers
Recombinant amphiregulin could be a potential therapeutic agent for cutaneous I/R injury.
Cancer Biology
Developmental Biology
Genetics and Genomics
Molecular Biology and Biochemistry
Skin Biology
CLINICAL
Family-based Analysis of Whole Genomes in Lupus
The study identifies several novel SLE susceptibility genes in an ancestrally diverse childhood-onset lupus cohort.
Epidemiology
Genetics and Genomics
Health Disparities
BASIC
Role of Neurotrophin Receptor CD271 in Cutaneous Squamous Cell Carcinoma Invasiveness Identified
CD271 could be a promising pharmaceutical target for the treatment of cutaneous squamous cell carcinoma.
Cancer Biology
Developmental Biology
Genetics and Genomics
Molecular Biology and Biochemistry
Skin Biology
BASIC
Macrophages Control Skin Susceptibility to a Common Bacterial Infection
Hypodermal macrophages play an important role in infection outcomes in the skin.
Clinical Research
Computational Biology
Microbiology and Infectious Diseases
Skin Biology
Virology
BASIC
Epigenomic Landscape of Murine Skin Epidermis Differentiation Revealed
An epigenomic map of epidermal differentiation during skin development.
Cancer Biology
Developmental Biology
Genetics and Genomics
Molecular Biology and Biochemistry
Skin Biology
CLINICAL
New Subsets of Immune Checkpoint Inhibitor Induced Myositis Identified by RNA Profiling
The study identified 3 new types of myositis in cancer patients receiving immune checkpoint inhibitors (ICIs) treatment.
Clinical Research
Immunology
Muscle Biology
CLINICAL
The Direct Binding of Anti-Mi2 Autoantibodies to Their Antigen Is Key to the Pathogenesis of Anti-Mi2 Dermatomyositis
Dermatomyositis (DM) Patients with anti-Mi2 autoantibodies against a transcriptional repressor protein (CHD4/NuRD complex) showed severe muscle disease than other DM patients.
Clinical Research
Immunology
Muscle Biology
CLINICAL
Understanding How Skin Cancer Presentation and Survival Differs by Racial and Ethnic Groups
Disparities in skin cancer presentation between races and ethnicities.
Cancer Biology
Computational Biology
Skin Biology
CLINICAL
Evaluation of Zilucoplan Use in Immune-Mediated Necrotizing Myopathy
Zilucoplan treatment did not improve immune-mediated necrotizing myopathy (IMNM) symptoms.
Clinical Research
Immunology
Muscle Biology
TRANSLATIONAL
High-Resolution Three-Dimensional Tool Allows for Direct Observation of Platelet Deformation Following SARS-CoV-2 Infection
Research has found that SARS-CoV-2 spike protein binds to platelet integrin receptors to trigger platelet deformation.
Cell Biology
Structural Biology
TRANSLATIONAL
Role of Neutrophil Extracellular Traps (NETs) in Accelerated Bone Erosion and Osteoclast Formation in Rheumatoid Arthritis
Research has indicated that Neutrophil Extracellular Traps (NETs) play a direct role in the production of autoantigens and the erosion of bone in rheumatoid arthritis.
Autoimmunity
Immunology
Molecular Biology and Biochemistry
Systems Biology
TRANSLATIONAL
Loss of an Enzyme in the Endoplasmic Reticulum—a Cell’s Transportation System—Might Play a Protective Role in Spondyloarthritis
Spondyloarthritis is a family of inflammatory diseases that affects the spine, pelvic joints, shoulders, and knees. This study demonstrated that altering the expression of ERAP1 protein may protect against arthritis.
Cell Biology
Clinical Research
Genetics and Genomics
Immunology
Molecular Biology and Biochemistry
CLINICAL
Spleen Tyrosine Kinase Inhibition Improves Disease Outcome in Severe COVID-19 Patients
Researchers found that fostamatinib reduced the proinflammatory response in severe COVID-19 cases in this study.
Cell Biology
Clinical Research
Immunology
Molecular Biology and Biochemistry
BASIC
Regulation of Metabolic Programing in T Cells by STAT5 Transcription Factor Protein
IL-2-STAT5 pathway plays an important role in CD4+ T cell metabolism and growth. High STAT5 activity in T cells might be linked to lymphoid malignancies.
Cell Biology
Clinical Research
Computational Biology
Genetics and Genomics
Immunology
CLINICAL
Level of UBA1 Production Inside the Cell Contributes to VEXAS Syndrome
The study described how the regulation of residual UBA1b translation is fundamental to VEXAS syndrome pathogenesis and contributes to disease prognosis.
Autoimmunity
Clinical Research
Computational Biology
Epidemiology
Genetics and Genomics
Immunology
CLINICAL
Protecting Ovarian Function in Lupus Patients Receiving Cyclophosphamide by Using Gonadotropin-Releasing Hormone Agonists
Premenopausal SLE females receiving CYC may benefit from GnRHa treatment to increase their pregnancy chances.
Autoimmunity
Clinical Research
Immunology
TRANSLATIONAL
Manual Counting Versus Artificial Intelligence in Assessing Monkeypox Lesions Using Patient Photographs
An artificial intelligence (AI) algorithm can count mpox skin lesions in patient photographs with close correlation to manual counts.
Clinical Research
Immunology
Skin Biology
CLINICAL
Identification of Biomarkers in Dermatomyositis Patients with Lower Cancer Risk
Presence of co-existing anti-Sp4 autoantibodies identifies a subgroup of anti-TIF1γ-positive DM patients with lower cancer risk.
Clinical Research
Immunology
Muscle Biology
CLINICAL
Multicenter Analysis of Neutrophil Extracellular Trap Dysregulation in Adult and Pediatric COVID-19
NETs were detected in many organs of adult patients who died from COVID-19 complications. Compared with other SARS-CoV-2 strains, the Omicron variant was associated with decreased NET levels.
Autoimmunity
Cell Biology
Clinical Research
Molecular Biology and Biochemistry
Systems Biology
BASIC
Molecular Mechanisms Leading to the Formation of Muscle and Neuronal Cells Starting from Mouse Embryonic Stem Cells
Molecular and epigenetic mechanisms that lead to the formation of muscle and neuronal cells from embryonic stem cells (ESCs).
Computational Biology
Developmental Biology
Genetics and Genomics
Muscle Biology
Stem Cell Biology
CLINICAL
Unlike in Adults, Anti-FHL1 Autoantibodies Are Not Associated with Severe Disease Symptoms in Juvenile Myositis
Anti-FHL1 autoantibodies in juvenile myositis is associated with V-sign rash on their chest and co-existing anti-Ro52 autoantibodies but not with adverse outcomes.
Clinical Research
Immunology
Muscle Biology
CLINICAL
Clinical Trial of Pioglitazone Shows Improved Vascular Stiffness and Cardiometabolic Parameters in SLE Patients
PGZ induces significant improvements in vascular stiffness and cardiometabolic parameters in SLE. The role of PGZ as a modulator of cardiovascular disease risk in SLE should be further explored.
Autoimmunity
Clinical Research
Immunology
BASIC
Neutrophil Function in Diabetic Foot Ulcers
The FOXM1 pathway is a novel regulator of NET formation during diabetic wound healing and can be used as a therapeutic target to promote healing in DFUs. Expression of TREM1 in neutrophils is less in DFUs.
Developmental Biology
Immunology
Molecular Biology and Biochemistry
Skin Biology
CLINICAL
Understanding the Relationship Between Vascular Inflammation Detected on a PET Scan with Future Risk to Develop Damage Within the Large Arteries
This study provides some of the first and only available data about the direct relationship between FDG-PET activity and angiographic change in large-vessel vasculitis.
Autoimmunity
Clinical Research
Computational Biology
Genetics and Genomics
Immunology
TRANSLATIONAL
Itaconic Acid Derivative Is Effective in Keeping Established Murine Lupus Under Control
A derivative of itaconic acid, 4-octyl itaconate, inhibits immune dysregulation and organ damage in lupus mice.
Autoimmunity
Cell Biology
Immunology
Molecular Biology and Biochemistry
TRANSLATIONAL
Gene Expression Analysis in Single Cells Reveals Considerable Diversity in Human Neutrophils
The study provides a new view of human neutrophil heterogeneity, with potential implications for neutrophil characterization in health and disease.
Cell Biology
Computational Biology
Genetics and Genomics
Molecular Pharmacology
CLINICAL
Clinical Practice Guidelines for Nonmelanoma Skin Cancer
The Society for Immunotherapy of Cancer (SITC) published the first clinical practice guideline (CPG) focused on immunotherapy for nonmelanoma skin cancer (NMSC).
Cancer Biology
Computational Biology
Skin Biology
BASIC
Isolation and Culture of Muscle Stem Cells and Progenitor Cells
The protocol describes in detail the mechanical and enzymatic dissociation of mononucleated cells from whole limb muscles and injured tibialis anterior (TA) muscles to isolate FAPs and MuSCs. Additionally, it describes an optimized method for culturing quiescent and activated FAPs and MuSCs.
Cell Biology
Developmental Biology
Muscle Biology
Stem Cell Biology
CLINICAL
Increased Risk of Statin-Associated Autoimmune Myopathy Among American Indians
Treatment with statins might lead to an increase in statin-associated autoimmune diseases, notably myositis or other related myopathies, in the American Indian population.
Clinical Research
Immunology
Muscle Biology
TRANSLATIONAL
Boosting NAD Metabolism Is Involved in Monocytes IFN Type I Proinflammatory Responses
Nicotinamide riboside (NR) can be used as a potential adjunct to lupus treatment.
Autoimmunity
Cell Biology
Immunology
TRANSLATIONAL
A GMR-based Assay for Quantification of the Human Response to Influenza
GMR biosensors can serve as a real-time diagnostic tool for clinical management of influenza infection.
Clinical Research
Computational Biology
Genetics and Genomics
Systems Biology
TRANSLATIONAL
Alterations of Human Skin Microbiome and Expansion of Antimicrobial Resistance After Systemic Antibiotics
Systemic use of antibiotics has long lasting effects on skin microbial communities, leading to the development and persistence of antibiotic resistance.
Computational Biology
Genetics and Genomics
Microbiology and Infectious Diseases
Skin Biology
BASIC
Severe Delayed Hypersensitivity Reactions to IL1 and IL6 Inhibitors Linked to a Common Genetic Profile
New medications help many people with inflammatory conditions and may ease severe COVID-19, but they carry risks.
Autoimmunity
Genetics and Genomics
TRANSLATIONAL
Sex differences in neutrophil biology affect response to type I interferons and cellular metabolism
There are striking differences between men and women in their ability to respond to certain infections, predisposition to and prognosis in certain cancers, and risk for developing an autoimmune disease. However, the underlying mechanisms that drive the differences between the male and female immune system remain insufficiently characterized, especially for innate immune system cells like neutrophils.
Autoimmunity
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