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".