Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee

作者：David R. Adams, Clara D. van Karnebeek, Sergi Beltrán, Víctor Faùndes, Saumya Shekhar Jamuar, Sally Ann Lynch, Guillem Pintos‐Morell, Ratna Dua Puri, Ruty Mehrian‐Shai, Charles A. Steward, Biruté Tumiene, Alain Verloès · 发表于：European Journal of Medical Genetics · 年份：2024 · DOI：10.1016/j.ejmg.2024.104951 · 被引用次数：21 · 研究领域：Genomics and Rare Diseases、Cystic Fibrosis Research Advances、Genomic variations and chromosomal abnormalities

The International Rare Diseases Research Consortium (IRDiRC) Diagnostic Scientific Committee (DSC) is charged with discussion and contribution to progress on diagnostic aspects of the IRDiRC core mission. Specifically, IRDiRC goals include timely diagnosis, use of globally coordinated diagnostic pipelines, and assessing the impact of rare diseases on affected individuals. As part of this mission, the DSC endeavored to create a list of research priorities to achieve these goals. We present a discussion of those priorities along with aspects of current, global rare disease needs and opportunities that support our prioritization. In support of this discussion, we also provide clinical vignettes illustrating real-world examples of diagnostic challenges.