Enhancing evidence-informed policymaking in medicine and healthcare: stakeholder involvement in the Commons Project for rare diseases in Japan.

Background: Although stakeholder involvement in policymaking is attracting attention in the fields of medicine and healthcare, a practical methodology has not yet been established. Rare-disease policy, specifically research priority setting for the allocation of limited research resources, is an area where evidence generation through stakeholder involvement is expected to be effective. We generated evidence for rare-disease policymaking through stakeholder involvement and explored effective collaboration among stakeholders.

Why does it take so long for rare disease patients to get an accurate diagnosis?-A qualitative investigation of patient experiences of hereditary angioedema.

Introduction: Many patients with rare diseases experience a diagnostic delay. Although several quantitative studies have been reported, few studies have used a qualitative approach to directly examine how patients with rare disease obtain a diagnosis and why it takes many years. In this study, we focused on hereditary angioedema (HAE), which has been reported to have long diagnostic delays, despite the knowledge that not having an accurate diagnosis can cause life-threatening problems.

Polymorphisms in Vitamin A-Related Genes and Their Functions in Autoimmune Thyroid Disease.

Vitamin A is a factor that suppresses immune responses, including T helper (Th)1 and Th17 responses. However, there has been no report showing the association between vitamin A-related genes (, , and ) and the prognosis of autoimmune thyroid disease (AITD). The objective of this study was to clarify the association between vitamin A-related genes and the susceptibility and prognosis of AITD.

The practice of active patient involvement in rare disease research using ICT: experiences and lessons from the RUDY JAPAN project.

Background: The role of patients in medical research is changing, as more emphasis is being placed on patient involvement, and patient reported outcomes are increasingly contributing to clinical decision-making. Information and communication technology provides new opportunities for patients to actively become involved in research. These trends are particularly noticeable in Europe and the US, but less obvious in Japan.