Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Abstract Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: “Ensuring that all patients who present with a suspected ra...

Descrición completa

Detalles Bibliográficos

Principais autores:	Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic
Formato:	Artigo
Idioma:	Inglês
Publicado:	BMC 2024-09-01
Series:	Orphanet Journal of Rare Diseases
Assuntos:	Rare disease Rare disease diagnosis Innovative technologies IRDiRC Rare disease research Genomics
Acceso en liña:	https://doi.org/10.1186/s13023-024-03361-0
Tags:	Engadir etiqueta Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!