International journal of medical informatics
Jun 21, 2025
BACKGROUND: Patients with rare diseases frequently experience misdiagnoses and long diagnostic delays. Accelerating their diagnosis is essential to ensure timely access to appropriate care. Given the increasing availability of EHRs, combining artific...
The integration of big data and artificial intelligence (AI) has revolutionized biomedicine, enhancing our understanding of diseases and health care practices. Although AI has shown remarkable success in some medical fields, its application in nephro...
International journal of medical informatics
Apr 21, 2025
OBJECTIVE: Dravet Syndrome (DS) is a developmental and epileptic encephalopathy that is characterized by severe, prolonged motor seizures and high resistance to multiple antiseizure medications (ASMs) with multiple comorbidities. Evaluating the effic...
BACKGROUND: Use of artificial intelligence (AI) in rare diseases has grown rapidly in recent years. In this review we have outlined the most common machine-learning and deep-learning methods currently being used to classify and analyse large amounts ...
BACKGROUND: Rare diseases affect fewer than 1 in 2000 individuals, but approximately 150 rare kidney diseases account for about 10% of the chronic kidney disease (CKD) population, impacting millions across Europe and globally. The scarcity of medical...
American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting
Apr 14, 2025
The field of rare cancer research is rapidly transforming, marked by significant progress in clinical trials and treatment strategies. Rare cancers, as defined by the National Cancer Institute, occur in fewer than 150 cases per million people each ye...
American journal of medical genetics. Part A
Apr 3, 2025
Arthrogryposis multiplex congenita (AMC) represents a large, rare group of congenital conditions. This study addressed major challenges in AMC research posed by the lack of systematic frameworks for data collection and the use of inconsistent termino...
Rare diseases (RDs) are a group of pathologies that individually affect less than 1 in 2000 people but collectively impact around 7% of the world's population. Most of them affect children, are chronic and progressive, and have no specific treatment....
Although rare diseases (RDs) affect over 260 million individuals worldwide, low data quality and scarcity challenge effective care and research. This work aims to harmonise the Common Data Set by European Rare Disease Registry Infrastructure, Health ...
BMC medical informatics and decision making
Feb 5, 2025
BACKGROUND: Virtual Gene Panels (VGP) comprising disease-associated causal genes are utilized in the diagnosis of rare genetic diseases to evaluate candidate genes identified by whole-genome and whole-exome sequencing. VGPs generated by the PanelApp ...
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