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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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.
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.
Scoliosis in Children and Teens
https://www.niams.nih.gov/health-topics/scoliosis
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.
Spinal Stenosis
https://www.niams.nih.gov/health-topics/spinal-stenosis
What is spinal stenosis? Spinal stenosis happens when the spaces in the spine narrow and create pressure on the spinal cord and nerve roots. The spinal cord is a bundle of nerves that comes out of the base of the brain and runs down the center of the spine. The nerve roots branch out from the cord. In spinal stenosis, the narrowing usually occurs over time.
Fibrous Dysplasia
https://www.niams.nih.gov/health-topics/fibrous-dysplasia
What is fibrous dysplasia? Fibrous dysplasia happens when abnormal fibrous (scar-like) tissue replaces healthy bone. The fibrous tissue weakens the bone over time, which can lead to: Broken bones. Bones that are misshapen (bowed or crooked). The disease can affect any bone in the body. Some people have no symptoms or only a few symptoms. Other people may have more symptoms. Although there is no cure for fibrous dysplasia, treatments may help to lessen pain, and physical therapy may help strengthen muscle and improve movement.
Fibromyalgia
https://www.niams.nih.gov/health-topics/fibromyalgia
What is fibromyalgia? Fibromyalgia is a long-lasting disorder that causes pain and tenderness throughout the body. It also can cause you to feel overly tired (fatigue) and have trouble sleeping. Doctors do not fully understand what causes fibromyalgia, but people with the disorder are more sensitive to pain.
Living With Scoliosis
https://www.niams.nih.gov/living-scoliosis
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.
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.