This public-private partnership seeks to develop new ways of identifying and validating promising biological targets for diagnostics and drug development.
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 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.
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 osteoarthritis? Osteoarthritis is a joint disease that happens when the tissues in the joint break down over time. It is the most common type of arthritis and is more common in older people. People with osteoarthritis usually have joint pain and, after rest, stiffness (inability to move easily) for a short period of time. The most commonly affected joints include the: Hands (ends of the fingers and at the base and ends of the thumbs). Knees. Hips. Neck. Lower back. Osteoarthritis affects each person differently. For some people, osteoarthritis does not affect day-to-day activities. For others, it causes
What is osteonecrosis? Your bones are made up of living cells that need a blood supply to stay healthy. In osteonecrosis, blood flow to part of a bone is reduced. This causes death of bone tissue, and the bone can eventually break down and the joint will collapse. Osteonecrosis can happen to any bone, but most often it develops in the ends of long bones, such as the: Thigh bone. Upper arm bone. Less often, the bones of the elbows, ankles, feet, wrists, and hands are affected. When the disease involves part of a bone in a joint, it can
What is systemic lupus erythematosus (lupus)? Systemic lupus erythematosus (lupus) is a chronic (long-lasting) autoimmune disease that can affect many parts of the body, including the: Skin. Joints. Heart. Lungs. Kidneys. Brain. Lupus happens when the immune system, which normally helps protect the body from infection and disease, attacks its own tissues. This attack causes inflammation and, in some cases, permanent tissue damage. If you have lupus, you may have times of illness (flares) and times of wellness (remission). Lupus flares can be mild to serious, and they do not follow a pattern. However, with treatment, many people with lupus
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 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