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

Autor: Adams DR; National Human Genome Research Institute, National Institutes of Health, USA. Electronic address: david.adams@nih.gov., van Karnebeek CDM; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Gastro-enterology Endocrinology Metabolism, Amsterdam University Medical Centers, the Netherlands., Agulló SB; Centre Nacional d'Anàlisi Genòmica (CNAG), Spain; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Spain., Faùndes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Chile., Jamuar SS; Genetics Service, KK Women's and Children's Hospital and Paediatrics ACP, Duke-NUS Medical School, Singapore; Singhealth Duke-NUS Institute of Precision Medicine, Singapore., Lynch SA; Children's Health Ireland, Ireland., Pintos-Morell G; Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital, Spain; MPS-Spain Patient Advocacy Organization, Spain., Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, India., Shai R; Pediatric Cancer Molecular Lab, Sheba Medical Center, Israel., Steward CA; Genomics England, United Kingdom., Tumiene B; Vilnius University, Faculty of Medicine, Institute of Biomedical Sciences, Lithuania., Verloes A; Département de Génétique, CHU Paris - Hôpital Robert Debré, France.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2024 Aug; Vol. 70, pp. 104951. Date of Electronic Publication: 2024 Jun 06.
DOI: 10.1016/j.ejmg.2024.104951
Abstrakt: 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.
(Copyright © 2024. Published by Elsevier Masson SAS.)
Databáze: MEDLINE
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