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 are growth plate injuries? The growth plate is the area of tissue near the ends of long bones in children and teens that determines what length and shape the bone will be once it is done growing. Each long bone— the thigh bone, the bones in the forearm, and the bones in the hands and fingers—has at least two growth plates, one at each end. Once your child has finished growing, the growth plates close and are replaced by solid bone. The growth plates are weak areas of your child’s growing skeleton, making it easier to injure them. Injuries
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 epidermolysis bullosa? Epidermolysis bullosa is a group of rare diseases that cause fragile skin that leads to blisters and tearing. Tears, sores, and blisters in the skin happen when something rubs or bumps the skin. They can appear anywhere on the body. In severe cases, blisters may also develop inside the body. The symptoms of the disease usually begin at birth or during infancy and range from mild to severe.
What is vitiligo? Vitiligo is a chronic (long-lasting) disorder that causes areas of skin to lose color. When skin cells that make color are attacked and destroyed, the skin turns a milky-white color. No one knows what causes vitiligo, but it may be an autoimmune disease. In people with autoimmune diseases, the immune cells attack the body’s own healthy tissues by mistake, instead of viruses or bacteria. A person with vitiligo sometimes may have family members who also have the disease. There is no cure for vitiligo, but treatment may help skin tone appear more even.
What is scleroderma? Scleroderma is an autoimmune connective tissue and rheumatic disease that causes inflammation in the skin and other areas of the body. This inflammation leads to patches of tight, hard skin. Scleroderma involves many systems in your body. A connective tissue disease is one that affects tissues such as skin, tendons, and cartilage. There are two major types of scleroderma: Localized scleroderma only affects the skin and the structures directly under the skin. Systemic scleroderma, also called systemic sclerosis, affects many systems in the body. This is the more serious type of scleroderma and can damage your blood
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