Current Advances and Future Directions in Rare Disease Diagnosis

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Rare diseases affect an estimated 3.5–5.9% of the global population1. Patients dealing with these conditions not only face a direct impact on their health but also frequently encounter challenges in identifying the genetic origins of their disorder. This often leaves them with limited treatment options. However, the field of rare disease diagnosis has seen significant advances with the introduction of next-generation sequencing (NGS). Essential techniques like whole-exome sequencing (WES), whole-genome sequencing (WGS), and RNA sequencing (RNA-seq) are now routinely used for diagnosing and understanding these complex conditions. These methodologies offer a more thorough analysis of genetic variations and improve the identification and management of rare diseases. To better understand the current state of the field, we spoke with two leading experts about their groups’ contributions to rare disease diagnostics.

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