• The path to diagnosis | Rare Horizons

  • Mar 12 2024
  • Length: 19 mins
  • Podcast

The path to diagnosis | Rare Horizons

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  • Summary

  • Unlike more recurrent diseases, most rare diseases do not exhibit clearly defined clinical manifestations, making it difficult to obtain an accurate diagnosis. About 80% of these diseases are of genetic origin, underscoring the importance of identifying the specific gene or genes that may be mutated. In this episode, we discuss how technology and professional networks can help improve and speed up the diagnosis of rare diseases, and the efforts being made to ensure early and equal diagnosis for everyone.

    If you have a rare disease or are caring for someone affected by one, consider getting registered in Share4Rare: https://www.share4rare.org/registration/s4r


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