Rickettsia felis: from a rare disease in the USA to a common cause of fever in sub-Saharan Africa. Clin Micro- biol Infect 17: 996-1000.Parola P. Rickettsia felis: From a rare disease in the USA to a common cause of fever in sub-Saharan Africa. Clin Microbiol Infect 2011; 17:996-...
What innovative changes are coming in research, clinical development, manufacturing, registrational paths, and commercial models that will impact the rare disease community Regulatory Framework for Drugs for Rare Diseases Insights and recommendations for those preparing for their go-to-market Stakeholders ...
People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level o...
Join the 14th World Congress on Rare Diseases and Orphan Drugs, June 2-3, 2025, in Amsterdam. Explore breakthroughs in research, treatment, and innovation to transform rare disease care globally.
Editor-in-Chief Francesc Palau Rare diseases are not exceptions to the general rules of disease biology and pathophysiology; they are, really, the exceptions on which the general rules are based. Rare diseases represent one end of the continuum of ways of getting sick. All...
A rare disease is one that affects fewer people than is expected at any particular moment. According to the National Institutes of Health (NIH), among them are more unique uncommon disorders that typically impact the endocrine system. Their symptoms may appear rare in the body as ambiguous, mak...
Although the occurrence of individual rare diseases often seems negligible, it is estimated that 30 million people in the USA are suffering from a rare disease, affecting 1 in 10 Americans, equivalent to the prevalence of type 2 diabetes [1,2]. About 7000 rare disorders are defined [2,3] ...
Rare genetic variants in KDR, encoding the vascular endothelial growth factor receptor 2 (VEGFR2), have been reported in patients with tetralogy of Fallot (TOF). However, their role in disease causality and pathogenesis remains unclear. We conducted exom
included in the RD cohort; (8) conditions are heterogeneous and genetic basis may affect only a disease subpopulation; (9) the ICD-10 codes used also include CC, which are unable to be separated from RDs, and thus are included in the health-care utilization and cost data reported here; ...
pooled from forty-three rare disease-related data resources, which can be found in the supplemental file named “NGKG Resources”. Furthermore, instead of mining the entire NGKG, only GBM-associated subgraphs based on pre-calculated disease clusters were derived, and multiple network analysis ...