Led by Dr. Michael Ombrello, the unit uses genomic approaches to understand the underlying factors of autoinflammatory and rheumatic diseases.
What is alopecia areata? Alopecia areata is a disease that causes hair loss. In alopecia areata, the immune system attacks the structures in skin that form hair (hair follicles). Alopecia areata usually affects the head and face, though hair can be lost from any part of the body. Hair typically falls out in small, round patches about the size of a quarter. In some cases, hair loss is more extensive.
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 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
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 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 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 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
The FDA approved Olumiant (baricitinib) oral tablets to treat adult patients with severe alopecia areata. The action marks the first FDA approval of a systemic treatment (i.e. treats the entire body rather than a specific location) for alopecia areata.