As part of an ongoing effort at Yale School of Medicine (YSM) to better understand rare diseases, a team spanning multiple departments and specialties from YSM and Yale New Haven Hospital has received a grant of approximately $3.35 million from the National Institutes of Health (NIH) to join the Undiagnosed Diseases Network as a new Diagnostic Center of Excellence. The Yale Diagnostic Center of Excellence will partner with key stakeholders in the community to increase genetic testing and diagnostic efforts in the Yale New Haven Health System and other health care systems in the state of Connecticut for patients with unexplained or undiagnosed symptoms, especially those from underserved groups.
An estimated 300 million people worldwide are living with rare diseases, many of which are so uncommon that they may be entirely new to medicine and remain undiagnosed by clinicians for many years. These diseases, which are often genetic in origin, can cause severe physical and mental impairments that shorten lifespan and diminish quality of life. In the United States, rare diseases are defined as affecting fewer than 200,000 patients, according to the 1983 Orphan Drug Act…
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