NIH researchers discover gene for rare disease of excess bone tissue growth
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Scleroderma Genomics and Health Disparities Unit
https://www.niams.nih.gov/labs/scleroderma-genomics-and-health-disparities-lab
The Scleroderma Genomics and Health Disparities Unit is focused on unraveling genetic risk by using genomic technologies and dissecting the mechanisms of transcriptional regulation in order to comprehend autoimmune, fibrotic, and health disparity conditions.
Lupus Genomics and Global Health Disparities Unit
https://www.niams.nih.gov/labs/lewandowski-lab
Dr. Lewandowski leads a team of scientists studying systemic lupus erythematosus patients in populations around the globe. Her research focuses on genetic drivers of severe disease and inflammation in diverse cohorts worldwide.
Osteoporosis
https://www.niams.nih.gov/health-topics/osteoporosis
What is osteoporosis? Osteoporosis is a disease that causes bones to become weak and brittle. This increases your risk of broken bones (fractures). Osteoporosis is a “silent” disease because you may not have symptoms. You may not even know you have the disease until you break a bone. Breaks can occur in any bone but happen most often in: Hip bones. Vertebrae in the spine. Wrist. You can take steps to help prevent osteoporosis and broken bones by: Doing weight-bearing exercises, such as walking or dancing, and lifting weights. Not drinking too much alcohol. Quitting smoking, or not starting if
Discussing Bone, Muscle, Skin, & Autoimmune Diseases: Info for American Indians, Alaska Natives - audio
A conversation between Dr. David R. Wilson, director of the NIH Tribal Health Research Office, and Dr. Lindsey A. Criswell, director of NIAMS, about information and resources for American Indians and Alaska Natives related to bone, muscle, skin, and autoimmune diseases.
Workshop Explores Strategies to Tackle Health Disparities in Osteoarthritis
https://www.niams.nih.gov/workshop-explores-strategies-tackle-health-disparities-osteoarthritis
A recent 2-day NIH workshop aimed to better understand health disparities in caring for and treating people with osteoarthritis (OA) and the role played by social determinants of health. NIAMS, NIA and NIMHD sponsored the event.
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.
Reactive Arthritis
https://www.niams.nih.gov/health-topics/reactive-arthritis
What is reactive arthritis? Reactive arthritis happens when an infection causes joint pain and swelling. A bacterial infection in the digestive or urinary tract or the genitals usually triggers the condition, but arthritis symptoms typically do not start until a few weeks after you have recovered from the infection. The most common features of reactive arthritis are inflammation of the joints (especially the knees and ankles), eyes, and urinary tract, but not everyone gets all three, or they might not happen at the same time.
Osteogenesis Imperfecta
https://www.niams.nih.gov/health-topics/osteogenesis-imperfecta
What is osteogenesis imperfecta? Osteogenesis imperfecta (OI) is a disease that causes your bones to break (fracture) easily. OI is also called brittle bone disease. Your symptoms may be mild or severe, depending on the type of OI you have.
Pemphigus
https://www.niams.nih.gov/health-topics/pemphigus
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.
Gout
https://www.niams.nih.gov/health-topics/gout
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
Pachyonychia Congenita
https://www.niams.nih.gov/health-topics/pachyonychia-congenita
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.
Osteopetrosis
https://www.niams.nih.gov/health-topics/osteopetrosis
What is osteopetrosis? Osteopetrosis is a rare disorder that causes bones to grow abnormally and become too dense. When this happens, bones can break easily. In addition, bones may be misshapen and large, causing other problems in the body, such as problems with: Seeing and hearing. Fighting infection. Controlling bleeding. Osteopetrosis is a genetic disease that a child inherits from their parents. The disorder may be mild to severe, and symptoms may show up early after birth or later in adulthood.
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. 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.
Growth Plate Injuries
https://www.niams.nih.gov/health-topics/growth-plate-injuries
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