[HTML][HTML] The impact of artificial intelligence in the odyssey of rare diseases
Emerging machine learning (ML) technologies have the potential to significantly improve the
research and treatment of rare diseases, which constitute a vast set of diseases that affect a …
research and treatment of rare diseases, which constitute a vast set of diseases that affect a …
[HTML][HTML] Diagnosis support systems for rare diseases: a scoping review
Introduction Rare diseases affect approximately 350 million people worldwide. Delayed
diagnosis is frequent due to lack of knowledge of most clinicians and a small number of …
diagnosis is frequent due to lack of knowledge of most clinicians and a small number of …
[HTML][HTML] RDAD: a machine learning system to support phenotype-based rare disease diagnosis
J Jia, R Wang, Z An, Y Guo, X Ni, T Shi - Frontiers in genetics, 2018 - frontiersin.org
DNA sequencing has allowed for the discovery of the genetic cause for a considerable
number of diseases, paving the way for new disease diagnostics. However, due to the lack …
number of diseases, paving the way for new disease diagnostics. However, due to the lack …
[HTML][HTML] Disease and economic burden for rare diseases in Taiwan: a longitudinal study using Taiwan's National Health Insurance Research Database
Background High-cost orphan drugs are becoming increasingly available to treat rare
diseases that affect a relatively small population. Little attention has been given to the …
diseases that affect a relatively small population. Little attention has been given to the …
Artificial intelligence in medical imaging and its impact on the rare disease community: threats, challenges and opportunities
Medicine is the art of compassionate care using scientific wisdom and the best available
tools. For a physician, each patient is a unique human being, with particular past history and …
tools. For a physician, each patient is a unique human being, with particular past history and …
[PDF][PDF] Knowledge of rare diseases among health care students–the effect of targeted education
K Jonas, M Waligóra, M Hołda… - Przegl …, 2017 - researchgate.net
ABSTRACT BACKGROUND. Poor knowledge on rare diseases (RD) results in a significant
delay in their diagnosis and treatment. So far there are no standards of university education …
delay in their diagnosis and treatment. So far there are no standards of university education …
Do hospitals satisfy our healthcare information needs for rare diseases?: Comparison of healthcare information provided by hospitals with information needs of family …
This study uses a cross-sectional online survey approach to investigate the gap between
healthcare information provided by hospitals and family caregivers' information needs and …
healthcare information provided by hospitals and family caregivers' information needs and …
Novel phenotype–disease matching tool for rare genetic diseases
Purpose To improve the accuracy of matching rare genetic diseases based on patient's
phenotypes. Methods We introduce new methods to prioritize diagnosis of genetic diseases …
phenotypes. Methods We introduce new methods to prioritize diagnosis of genetic diseases …
Rare disease discovery: An optimized disease ranking system
The initial diagnosis of rare diseases is difficult because they are infrequent and doctors do
not often see or recognize their symptoms. Developing tools to assist in this diagnosis would …
not often see or recognize their symptoms. Developing tools to assist in this diagnosis would …
Transition database for rare diseases and its use for clinical documentation
M Zoch, C Gierschner, R Gebler… - Health Informatics …, 2024 - journals.sagepub.com
Patients with rare diseases commonly suffer from severe symptoms as well as chronic and
sometimes life-threatening effects. Not only the rarity of the diseases but also the poor …
sometimes life-threatening effects. Not only the rarity of the diseases but also the poor …