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.
This public-private partnership seeks to develop new ways of identifying and validating promising biological targets for diagnostics and drug development.
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 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 reactive arthritis? Reactive arthritis happens when an infection causes joint pain and swelling. A bacterial infection in the digestive or urinary tract or the genitals usually triggers the condition, but arthritis symptoms typically do not start until a few weeks after you have recovered from the infection. The most common features of reactive arthritis are inflammation of the joints (especially the knees and ankles), eyes, and urinary tract, but not everyone gets all three, or they might not happen at the same time.
What is pemphigus? Pemphigus is a rare disease that causes blistering on many parts of the body, including the skin and the inside of the mouth, nose, throat, eyes, and genitals. In pemphigus, the immune system mistakenly attacks cells in the top layer of the skin.
What is alopecia areata? Alopecia areata is a disease that causes hair loss. In alopecia areata, the immune system attacks the structures in skin that form hair (hair follicles). Alopecia areata usually affects the head and face, though hair can be lost from any part of the body. Hair typically falls out in small, round patches about the size of a quarter. In some cases, hair loss is more extensive.
What is gout? Gout is a type of arthritis that causes pain and swelling in your joints, usually as flares that last for a week or two, and then go away. Gout flares often begin in your big toe or a lower limb. Gout happens when high levels of a substance called serum urate build up in your body. When this happens, needle-shaped crystals form in and around the joint. This leads to inflammation and arthritis of the joint. However, many people with high levels of serum urate will not develop gout. With early diagnosis, treatment, and lifestyle changes, gout
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
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.
The FDA approved Olumiant (baricitinib) oral tablets to treat adult patients with severe alopecia areata. The action marks the first FDA approval of a systemic treatment (i.e. treats the entire body rather than a specific location) for alopecia areata.
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.