Led by Dr. Michael Ombrello, the unit uses genomic approaches to understand the underlying factors of autoinflammatory and rheumatic diseases.
Robert Colbert, M.D., Ph.D., leads a team of scientists in the Pediatric Translational Research Branch studying the etiology and pathogenesis of early onset arthritis, including axial disease in juvenile spondyloarthritis.
PEPR Overview The Validation of Pediatric Patient Reported Outcomes in Chronic Diseases (PEPR) Consortium (U19) will capitalize on recent advances in the science of Patient Reported Outcomes (PROs) to assess the health of children with a variety of chronic diseases and conditions in clinical research and care settings. Examples of
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 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.
A researcher from Stanford University asked IRP investigator Michael Ombrello, M.D., to help her team follow a new lead in the mystery of why some patients with a rare inflammatory condition called Still’s disease were coming down with a life-threatening lung ailment.
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
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.
Keith Sikora, M.D., is an assistant clinical investigator in the Pediatric Translational Research Branch. He researches the pathogenesis of pediatric inflammatory disease, including juvenile arthritis and relapsing polychondritis.