Led by Dr. Mariana Kaplan, the branch studies autoimmune diseases, like lupus and rheumatoid arthritis, seeking treatments and improved outcomes.
Led by Dr. Michael Ombrello, the unit uses genomic approaches to understand the underlying factors of autoinflammatory and rheumatic diseases.
What is acne? Acne is a common skin condition that happens when hair follicles under the skin become clogged. Oil and dead skin cells plug the pores, and outbreaks of lesions (often called pimples or zits) can happen. Most often, the outbreaks occur on the face but can also appear on the back, chest, and shoulders. For most people, acne tends to go away by the time they reach their thirties, but some people in their forties and fifties continue to have this skin problem.
This public-private partnership seeks to develop new ways of identifying and validating promising biological targets for diagnostics and drug development.
Dr. Kaplan’s research focuses on identifying the molecular mechanisms that promote the initiation and perpetuation of perturbed immune responses and the development of organ damage and premature vascular disease in systemic autoimmunity.
Dr. Yongquan Luo is a biologist in the Pediatric Translational Research Branch. He is pursuing studies of mutation of gene WHAMM on pathogenesis in Axial spondyloarthritis using patient derived hiPSCs and CRISPR/Cas9 technologies.
What is ankylosing spondylitis? Ankylosing spondylitis is a type of arthritis that causes inflammation in certain parts of the spine. Over time, this inflammation in the joints and tissues of the spine can cause stiffness. In severe cases, this may cause the bones in the spine to grow together, which can lead to a rigid spine that is difficult to bend. Many people with ankylosing spondylitis have mild episodes of back pain and stiffness that come and go. But others have severe, ongoing back pain and stiffness. Other symptoms also may develop if other areas of the body are affected
What is pachyonychia congenita? Pachyonychia congenita (PC) is a very rare genetic disorder that affects the skin and nails. Most people have thickened nails and calluses on the bottom of the feet. Painful calluses on the soles can make walking difficult. Because of the pain, some people rely on a cane, crutches, or a wheelchair to help with walking.
What are autoinflammatory diseases? Autoinflammatory diseases refer to problems with the immune system, which usually fights off viruses, bacteria, and infection. The problem causes your immune cells to attack your body by mistake. This can cause swelling that produces fever, rash, joint swelling, or serious buildup of a blood protein in your organs.
What is Paget’s disease? Paget’s disease of bone is a chronic (long-lasting) disorder that causes bones to grow larger and become weaker than normal. Usually only one or a few bones have the disease. Many people with Paget’s disease do not have symptoms. However, the bone changes can cause: Bone pain. Misshapen bones. Broken bones (fractures). Problems in the joints near the bones with the disease. With treatment, many people can: Manage their symptoms. Improve pain. Control the effects of the disease.
What is osteoporosis? Osteoporosis is a disease that causes bones to become weak and brittle. This increases your risk of broken bones (fractures). Osteoporosis is a “silent” disease because you may not have symptoms. You may not even know you have the disease until you break a bone. Breaks can occur in any bone but happen most often in: Hip bones. Vertebrae in the spine. Wrist. You can take steps to help prevent osteoporosis and broken bones by: Doing weight-bearing exercises, such as walking or dancing, and lifting weights. Not drinking too much alcohol. Quitting smoking, or not starting if
What is Sjögren’s syndrome? Sjögren’s syndrome is a chronic (long-lasting) disorder that happens when the immune system attacks the glands that make moisture in the eyes, mouth, and other parts of the body. The main symptoms are dry eyes and mouth, but the disorder may affect other parts of the body. Many people with Sjogren’s syndrome say they feel tired often (fatigue). They also may have joint and muscle pain. In addition, the disease can damage the lungs, kidneys, and nervous system.
Research supported by the Accelerating Medicines Partnership (AMP) on Rheumatoid Arthritis and Systemic Lupus Erythematosus (RA/SLE) provides new insights into tissue damage for these autoimmune conditions. Findings include the identification of novel molecular signatures related to immune system signaling in kidney cells that may reflect their active role in disease process; molecular targets, including specific white blood cells, for potential treatment in lupus nephritis; and specific types of fibroblasts and white blood cells that are involved in rheumatoid arthritis.
What is rheumatoid arthritis? Rheumatoid arthritis (RA) is a chronic (long-lasting) disease that mostly affects joints, such as the wrist, hands, feet, spine, knees, and jaw. In joints, RA causes inflammation that leads to: Pain. Swelling Stiffness. Loss of function. Rheumatoid arthritis is an autoimmune disorder because the immune system attacks the healthy joint tissues. Normally, the immune system helps protect the body from infection and disease. RA may cause you to feel unusually tired, to have occasional fevers, and to have a loss of appetite. It also may cause other medical problems in the heart, lungs, blood, nerves, eyes
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A type of skin cell called a dermal fibroblast can make an antimicrobial compound called cathelicidin in response to infection by acne-causing bacteria.
What are polymyalgia rheumatica and giant cell arteritis? Polymyalgia rheumatica and giant cell arteritis are closely linked inflammatory disorders. Some people have one of the disorders while others develop both of them. Polymyalgia rheumatica causes muscle pain and stiffness in the shoulders, upper arms, hip area, and sometimes the neck. Giant cell arteritis causes inflammation of arteries, especially those on each side of the head, scalp, and the aorta (the large artery that carries blood from the heart) and its main branches. The main symptoms of this disorder are: Headaches. Scalp tenderness. Jaw pain. Problems with your eyes, which may
Human skin is home to diverse ecosystems including bacteria, viruses, and fungi. These microbial communities comprise hundreds of species and are collectively known as the skin microbiome.