OBJECTIVES: Clinical quality registries (CQRs) have been implemented worldwide by
several medical specialties aiming to generate a better characterization of epidemiology …

Background Given the increased availability of data sources such as hospital information
systems, electronic health records, and health-related registries, a novel approach is …

Medicine development for rare diseases, including inborn errors of metabolism (IEMs) is
challenging. Many academic innovations fail to reach the patient, either by stranding in the …

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 …

Background XLH is a rare, genetic disorder associated with a diverse range of clinical
manifestations in both children and adults [1]. The disease is progressive and lifelong, with …

Translational research in neurological and psychiatric diseases is a rapidly advancing field
that promises to redefine our approach to these complex conditions [1–9]. The Topic …

Newborn screening (NBS) is an important secondary prevention program, aiming to shift the
paradigm of medicine to the pre‐clinical stage of a disease. Starting more than 50 years …

Rare diseases (RDs) affect up to 8% of the world's population, and unfortunately, health
professionals have a low level of knowledge regarding the impacts of RDs on the social …

Notwithstanding two decades of policy and legislation in Europe, aimed to foster research
and development in rare conditions, only 5–6% of rare diseases have dedicated treatments …

Abstract Inspiring New Science to Guide Healthcare in Turner Syndrome (InsighTS) Registry
is a national, multicenter registry for individuals with Turner syndrome (TS) designed to …