6000–8000 rare diseases are estimated to occur globally, and new rare diseases are frequently described in the medical literature, which adds to the list of already established and studied diseases. Since 80% of RDs are of genetic origin, children are disproportionately affected [3]. India ...
The contribution of rare variants to human disease is a matter of considerable debate, together with the distribution of these variants in the population, as they may underlie early-onset disease and increase susceptibility to common diseases [1,44,45,48–50]. Most rare variants are private to ...
Recently, the National Health and Health Committee of China first defined 121 rare diseases in the Chinese population. The list of these rare diseases was established according to prevalence, disease burden and social support, medical technology status, and the definition of rare diseases in relevant...
These challenges are compounded when considered in the context of treatments for rare diseases. In this paper, we describe the methodological challenges to developing and using prospective and retrospective RWE for HTA decisions, for rare diseases in particular. We focus attention on key elements of ...
Rare disease (RD) management and orphan drug development in India face various hurdles regarding the implementation and adoption of comprehensive policies, lack of dedicated regulatory frameworks, and absence of epidemiological data. Current rare disease
Rare diseases affect 30 million people in the USA and more than 300–400 million worldwide, often causing chronic illness, disability, and premature death. Traditional diagnostic techniques rely heavily on heuristic approaches, coupling clinical experien
p values were calculated for phenotypic similarity between probands and HPO annotated diseases by comparing pairwise similarity between a proband and a particular disease against the phenotypic similarity of 100,000 random pairs of HPO annotated probands and disease. A list of HPO terms annotated to...
population. The list of these rare diseases was established according to prevalence, disease burden and social support, medical technology status, and the definition of rare diseases in relevant international institutions. Twenty million people in China were reported to suffer from these rare diseases....
Experts demonstrated high concordance regarding the inclusion of other treatable, infant-onset metabolic conditions that have no stable or pathognomonic biochemical screening biomarker and that could easily be assayed on a population level, such as glycogen storage diseases, types Ia and Ib; hyper...
evaluations for her son. Around two months after his birth, the infant was diagnosed with a severe case of biliary atresia, a condition in which bile ducts in and around the liver are scarred and blocked,according to the National Institute of Diabetes and Digestive and Kidney Diseases(...