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In the United States, a disease is considered “rare” if it affects fewer than 200,000 individuals. More than 7,000 rare diseases exist, and around 30 million Americans live with rare diseases. The majority of these diseases are genetic.

Washington University Physicians and Researchers are committed to uncovering the genetic roots of rare diseases and to using those insights to develop new treatments. With projects spanning multiple disease areas, our physicians and scientists are using cutting-edge skills in modern medicine, genetics and genomics, and pharmacology to better understand and ultimately seek effective treatments for rare diseases.

Rare Disease Day® is an international event held on the last day of February to raise awareness about the impact of rare diseases on patients’ lives and to emphasize the need for research. To mark this day, we will host an annual Rare Disease Day Symposium at Washington University Medical Center and bring together those working on rare diseases to collaborate, share experiences, work through obstacles and discuss the future of rare diseases, and inspire young scientists and clinicians to choose a path in rare diseases.