Results 31 to 40 of about 11,580,920 (364)
The national economic burden of rare disease in the United States in 2019
Orphanet Journal of Rare Diseases, 2021 Background To provide a comprehensive assessment of the total economic burden of rare diseases (RD) in the United States (U.S.) in 2019. We followed a prevalence-based approach that combined the prevalence of 379 RDs with the per-person direct medical ...
Grace Yang +5 more
semanticscholar +1 more source
Overview of patients’ cohorts in the French National rare disease registry
Orphanet Journal of Rare Diseases, 2023 In France, all patients followed by Rare Disease (RD) expert centers have to be registered in the National Rare Disease Registry (BNDMR). This database collects a minimum data set including diagnosis coded using the Orphanet nomenclature.
Thibaut Pichon +7 more
doaj +1 more source
Public Health Genomics, 2013 <b><i>Background:</i></b> Nowadays 7,000 rare diseases (RDs) have been identified with a prevalence less than 5/10,000. Despite of the enormous effort the European Union (EU) has already invested in this field, still 4,000 RDs remain orphan of genetic diagnosis and causative gene identification.
FERLINI, Alessandra +2 more
openaire +4 more sources
The economics of moonshots: Value in rare disease drug development
Clinical and Translational Science, 2022 The authors review the literature surrounding the economics of rare disease drug development and access before advancing the case for novel approaches to funding treatments.
N. Yates, J. Hinkel
semanticscholar +1 more source
Drug target gene-based analyses of drug repositionability in rare and intractable diseases
Scientific Reports, 2021 Drug development for rare and intractable diseases has been challenging for decades due to the low prevalence and insufficient information on these diseases. Drug repositioning is increasingly being used as a promising option in drug development.
Ryuichi Sakate, Tomonori Kimura
doaj +1 more source
Application of Bayesian methods to accelerate rare disease drug development: scopes and hurdles
Orphanet Journal of Rare Diseases, 2022 Background Design and analysis of clinical trials for rare and ultra-rare disease pose unique challenges to the practitioners. Meeting conventional power requirements is infeasible for diseases where sample sizes are inherently very small. Moreover, rare
K. Kidwell +9 more
semanticscholar +1 more source
Analytical Cellular Pathology, 2023 Currently, 80%–90% of liver cancers are hepatocellular carcinomas (HCC). HCC patients develop insidiously and have an inferior prognosis. The methyltransferase-like (METTL) family principal members are strongly associated with epigenetic and tumor ...
Haoyu Wang +6 more
doaj +1 more source
Expert Consensus for the Diagnosis and Treatment of Gitelman Syndrome in China (2021)
Xiehe Yixue Zazhi, 2021 In recent years, research on the clinical phenotypes, new classifications, modified functional tests, biomarkers and management experience for patients with Gitelman syndrome (GS)has made a lot of progress in China. Based on evidence-based medicine, this
Rare Diseases Society of Chinese Research Hospital Association, National Rare Diseases Committee, Beijing Rare Disease Diagnosis, Treatment and Protection Society, Gitelman Syndrome Consensus Working Group
doaj +1 more source
Genome Medicine, 2021 We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015.
H. Stranneheim +51 more
semanticscholar +1 more source
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
medRxiv, 2021 PURPOSE: To provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids (GA4K) program.
A. Cohen +89 more
semanticscholar +1 more source