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 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 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 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 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.
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