Translational Genetics and Genomics Unit
https://www.niams.nih.gov/labs/ombrello-lab
Led by Dr. Michael Ombrello, the unit uses genomic approaches to understand the underlying factors of autoinflammatory and rheumatic diseases.
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Mariana J. Kaplan, M.D.
https://www.niams.nih.gov/about/directory/mariana-j-kaplan-md
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.
Yongquan Luo, Ph.D.
https://www.niams.nih.gov/about/directory/yongquan-luo-phd
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.
Ankylosing Spondylitis
https://www.niams.nih.gov/health-topics/ankylosing-spondylitis
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
Vitiligo
https://www.niams.nih.gov/health-topics/vitiligo
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.
Paget’s Disease of Bone
https://www.niams.nih.gov/health-topics/pagets-disease-bone
What is Paget’s disease? Paget’s disease of bone is a chronic (long-lasting) disorder that causes bones to grow larger and become weaker than normal. Usually only one or a few bones have the disease. Many people with Paget’s disease do not have symptoms. However, the bone changes can cause: Bone pain. Misshapen bones. Broken bones (fractures). Problems in the joints near the bones with the disease. With treatment, many people can: Manage their symptoms. Improve pain. Control the effects of the disease.
Treating vitiligo: Studies look for long-term options
https://www.niams.nih.gov/treating-vitiligo-studies-look-long-term-options
Polymyalgia Rheumatica and Giant Cell Arteritis
https://www.niams.nih.gov/health-topics/polymyalgia-rheumatica-giant-cell-arteritis
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