Led by Dr. Michael Ombrello, the unit uses genomic approaches to understand the underlying factors of autoinflammatory and rheumatic diseases.
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 osteonecrosis? Your bones are made up of living cells that need a blood supply to stay healthy. In osteonecrosis, blood flow to part of a bone is reduced. This causes death of bone tissue, and the bone can eventually break down and the joint will collapse. Osteonecrosis can happen to any bone, but most often it develops in the ends of long bones, such as the: Thigh bone. Upper arm bone. Less often, the bones of the elbows, ankles, feet, wrists, and hands are affected. When the disease involves part of a bone in a joint, it can
What is Marfan syndrome? Marfan syndrome is a genetic disorder that affects the body’s ability to make healthy connective tissue, which supports the bones, muscles, organs, and tissues in your body. The condition can affect different areas of the body, including: Bones, ligaments, tendons, and cartilage. Organs, such as the heart and lungs. Skin.
What is rosacea? Rosacea (ro-ZAY-she-ah) is a long-term skin condition that causes reddened skin and a rash, usually on the nose and cheeks. It may also cause eye problems.
What is psoriasis? Psoriasis is a chronic (long-lasting) disease in which the immune system works too much, causing patches of skin to become scaly and inflamed. Most often, psoriasis affects the: Scalp. Elbows. Knees. The symptoms of psoriasis can sometimes go through cycles, flaring for a few weeks or months followed by times when they subside (or go into remission). If you have psoriasis, you may have a higher risk of getting other serious conditions, including: Psoriatic arthritis. Heart attack or stroke. Mental health problems, such as low self-esteem, anxiety, and depression.
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 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 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
Researchers published a proof-of-principle paper in the journal Science Immunology demonstrating just how precision medicine for inflammatory skin rashes might work.