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University of Nebraska Medical Center

2022 was a breakthrough year for understanding rare diseases. 2023 needs to be better

(STAT) Major advances in the study and treatment of rare diseases occurred in 2022, from a better understanding of just how many of these diseases exist to the start of new clinical trials that may lead to new therapies. For the last decade or so, the number of accepted rare diseases has stood between 7,000 and 8,000, though the number had been ticking up. RareX’s Power of Being Counted report, published in June 2022, now puts the number of recognized rare diseases at 10,867, an increase of more than one-third. According to the report, the earlier estimates failed to represent the full spectrum of these diseases.

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