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 scoliosis? Scoliosis is a sideways curve of the spine. Children and teens with scoliosis have an abnormal S-shaped or C-shaped curve of the spine. The curve can happen on either side of the spine and in different places in the spine. With treatment, observation, and follow-up with the doctor, most children and teens with scoliosis have normal, active lives.
What is Sjögren’s syndrome? Sjögren’s syndrome is a chronic (long-lasting) disorder that happens when the immune system attacks the glands that make moisture in the eyes, mouth, and other parts of the body. The main symptoms are dry eyes and mouth, but the disorder may affect other parts of the body. Many people with Sjogren’s syndrome say they feel tired often (fatigue). They also may have joint and muscle pain. In addition, the disease can damage the lungs, kidneys, and nervous system.
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 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 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 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.
An NIH Health Capsule article. Scoliosis is a disease that causes the spine to curve. It can result in an abnormal s-shaped or c-shaped curve. Anyone can get scoliosis. But it’s most common in children age 11 and older.
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