Dr. Carmelo Carmona-Rivera studies the role of post-translational modifications such as citrullination, carbamylation, and others in the pathogenesis of rheumatoid arthritis, hidradenitis suppurativa, and other autoinflammatory/autoimmune conditions.
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. 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 Sjögren’s syndrome? Sjögren’s syndrome is a chronic (long-lasting) disorder that happens when the immune system attacks the glands that make moisture in the eyes, mouth, and other parts of the body. The main symptoms are dry eyes and mouth, but the disorder may affect other parts of the body. Many people with Sjogren’s syndrome say they feel tired often (fatigue). They also may have joint and muscle pain. In addition, the disease can damage the lungs, kidneys, and nervous system.
What is Marfan syndrome? Marfan syndrome is a genetic disorder that affects the body’s ability to make healthy connective tissue, which supports the bones, muscles, organs, and tissues in your body. The condition can affect different areas of the body, including: Bones, ligaments, tendons, and cartilage. Organs, such as the heart and lungs. Skin.
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 are autoimmune diseases? Autoimmune diseases refer to problems with the immune system, which usually fights off viruses, bacteria, and infection. The problem causes your immune cells to attack your body by mistake. These diseases can affect almost any part of the body.
NIH scientists developed and recently released a free, online data query tool called NeutGX. Researchers around the world can use NeutGX to explore the genetic basis of neutrophil-mediated inflammation in autoimmune diseases, cancer, infectious diseases and other conditions.
Adeline Chin, a postbaccalaureate research fellow, is searching for proteins present at abnormally high or low levels in the blood of kids with a rare autoimmune illness.
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.
Sometimes, your immune system makes mistakes. If it sees your body’s healthy cells as a threat, it may attack them. This can cause an autoimmune disorder.
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.
Led by Dr. Mariana Kaplan, the branch studies autoimmune diseases, like lupus and rheumatoid arthritis, seeking treatments and improved outcomes.