Led by Dr. Michael Ombrello, the unit uses genomic approaches to understand the underlying factors of autoinflammatory and rheumatic diseases.
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
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 Raynaud’s phenomenon? Raynaud’s phenomenon is a condition that causes the blood vessels in the hands and feet to narrow, decreasing blood flow. When this happens, parts of the body—usually the fingers and toes—become cold and numb, and change color (usually, to white or blue). An attack usually happens from exposure to cold or stress.
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 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 psoriatic arthritis? Psoriatic arthritis is a condition that causes swelling and pain in joints and the places where tendons and ligaments attach to bones. Most people who develop psoriatic arthritis already have psoriasis (a skin disease), but a small number have joint pain before the skin rash.