Patient registries serve to overcome the research limitations inherent in the study of rare
diseases, where patient numbers are typically small. Despite the value of real-world data …

IMAJ• VOL 18• JUNE 2016 tion to meet the needs of clinicians, and serves as a basis for
building the ICD-11 proposals of revision. In the meantime, the European Commission …

Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in
protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most …

Abstract The premise of Open Science is that research and medical management will
progress faster if data and knowledge are openly shared. The value of Open Science is …

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

Objective: By definition a rare disease affects fewer than 1 in 2,000 people but collectively 1
in 17 people are affected at some time in their lives. Rare disease patients often describe …

Background Rare diseases are a global public health priority. Though each disease is rare,
when taken together the thousands of known rare diseases cause significant morbidity and …

There is a growing concern in the ethics literature and among policy makers that de-
identification or coding of personal data and biospecimens is not sufficient for protecting …

Background Research into rare diseases is becoming more common, with recognition of the
significant diagnostic and therapeutic care gaps. Registries are considered a key research …

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