| Title |
Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee / |
| Authors |
Adams, David R ; van Karnebeek, Clara D.M ; Agulló, Sergi Beltran ; Faùndes, Víctor ; Jamuar, Saumya Shekhar ; Lynch, Sally Ann ; Pintos-Morell, Guillem ; Puri, Ratna Dua ; Shai, Ruty ; Steward, Charles A ; Tumienė, Birutė ; Verloes, Alain |
| DOI |
10.1016/j.ejmg.2024.104951 |
| Full Text |
|
| Is Part of |
European journal of medical genetics.. Elsevier Masson s.r.l.. 2024, vol. 70, art. no. 104951, p. [1-7].. ISSN 1769-7212. eISSN 1878-0849 |
| Abstract [eng] |
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. |
| Published |
Elsevier Masson s.r.l |
| Type |
Journal article |
| Language |
English |
| Publication date |
2024 |
| CC license |
|
