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

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 rare disease receive a diagnosis within one year if their disorder is documented in the medical literature".

Citation:
van Karnebeek CDM, O'Donnell-Luria A, …….. Lassmann T, Letinturier MCV, et al. Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases. Orphanet J Rare Dis. 2024;19(1):357.

Keywords:
Genomics; IRDiRC; Innovative technologies; Molecular diagnostics; Rare disease; Rare disease diagnosis; Rare disease research

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 rare disease receive a diagnosis within one year if their disorder is documented in the medical literature".