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Jun 19, 2024 · We review how approaches to rare diseases differ globally, the impact this has and how better awareness can help to improve patient outcomes.
Jun 15, 2024 · Scleroderma (sklair-oh-DUR-muh), also known as systemic sclerosis, is a group of rare diseases that involve the hardening and tightening of the skin. Scleroderma also may cause problems in the blood vessels, internal organs and digestive tract.
Jun 24, 2024 · Our vision: Enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention.
Jun 29, 2024 · Rare Disease 101: The Basics. Dr McKay discusses patient-centered strategies and clinical considerations for managing rare disease in the clinic. Authors: Lucy McKay, MD.
Jul 1, 2024 · By definition, a rare disease affects less than 200,000 people. Rare diseases include more than 10,000 known conditions, and cumulatively affect more than 30 million people, or 1 in 10 Americans. That’s about the same prevalence as diabetes. A few, including multiple sclerosis, are well known.
4 days ago · Our retrospective analysis of molecularly diagnosed patients led to the identification of rare and ultra-rare recessive disease-causing genes; 57.7% of the detected alleles represented previously ...
Jun 26, 2024 · Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic connective tissue disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification), such as the ligaments, tendons and skeletal muscles.
