Abstract Background Rare diseases (RDs) affect approximately 8% of all people or> 400
million people globally. The Australian Government's National Strategic Action Plan for Rare …

Abstract The European Union (EU) policy for healthcare requires the establishment of a
system of European Reference Networks, union-wide information databases, and registries …

Abstract Background The European Union acknowledges the relevance of registries as key
instruments for developing rare disease (RD) clinical research, improving patient care and …

Objective The present manuscript aims to describe an international, electronic-based, user-
friendly and interoperable patient registry for monogenic autoinflammatory diseases …

Abstract Background Metachromatic Leukodystrophy (MLD) is a rare lysosomal disorder.
Patients suffer from relentless neurological deterioration leading to premature death …

Orphan diseases pose both a challenge to the global medical community and an opportunity
for it to focus on global peace engineering and innovation. Where, any single orphan …

The study aims to systematically review literature on the rare diseases information system to
identify architecture of this system from a data perspective. The search for relevant English …

Facioscapulohumeral dystrophy (FSHD) is a rare inherited neuromuscular disease
estimated to affect 1/15,000 people. Through basic research, remarkable progress has been …

The list of rare inherited disorders with renal involvement is rapidly growing. Many are single
gene diseases affecting children, but cases are not restricted to pediatrics and diagnosis is …

Abstract Health Technology Assessments (HTAs) are gaining importance with support of
governments in the Western World. With evidence synthesis and economic modeling …