Rare diseases impose a significant burden on affected individuals, caregivers, and healthcare systems worldwide. Developing effective therapeutics for these small patient populations presents substantial challenges. Antisense oligonucleotides (ASOs) ...
International journal of computer assisted radiology and surgery
Dec 29, 2024
PURPOSE: This study explores the use of deep generative models to create synthetic ultrasound images for the detection of hemarthrosis in hemophilia patients. Addressing the challenge of sparse datasets in rare disease diagnostics, the study aims to ...
Rare diseases affect 1-in-10 people in the United States and despite increased genetic testing, up to half never receive a diagnosis. Even when using advanced genome sequencing platforms to discover variants, if there is no connection between the var...
BACKGROUND: Rare diseases affect millions worldwide but sometimes face limited research focus individually due to low prevalence. Many rare diseases do not have specific International Classification of Diseases, Ninth Edition (ICD-9) and Tenth Editio...
Journal of chemical information and modeling
Dec 17, 2024
Rare diseases (RDs), affecting 300 million people globally, present a daunting public health challenge characterized by complexity, limited treatment options, and diagnostic hurdles. Despite legislative efforts, such as the 1983 US Orphan Drug Act, m...
The integration of rare disease medical databases belonging to different countries is an important problem, as a large number of observations are required for reliable statistical inference of patient data in order to facilitate clinical research. Su...
Pathogenic variants underlying Mendelian diseases often disrupt the normal physiology of a few tissues and organs. However, variant effect prediction tools that aim to identify pathogenic variants are typically oblivious to tissue contexts. Here we r...
OBJECTIVE: To conduct a comprehensive bibliometric analysis of the application of artificial intelligence (AI) in Rare diseases (RDs), with a focus on analyzing publication output, identifying leading contributors by country, assessing the extent of ...
IEEE/ACM transactions on computational biology and bioinformatics
Aug 8, 2024
Millions of patients suffer from rare diseases around the world. However, the samples of rare diseases are much smaller than those of common diseases. Hospitals are usually reluctant to share patient information for data fusion due to the sensitivity...
BACKGROUND: Despite the frequent diagnostic delays of rare neurologic diseases (RND), it remains difficult to study RNDs and their comorbidities due to their rarity and hence the statistical underpowering. Affecting one to two in a million annually, ...
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