AIMC Topic: Rare Diseases
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Quantitative retrospective natural history modeling for orphan drug development.
Journal of inherited metabolic disease
Sep 8, 2020
The natural history of most rare diseases is incompletely understood and usually relies on studies with low level of evidence. Consistent with the goals for future research of rare disease research set by the International Rare Diseases Research Cons...
Biomedical Holistic Ontology for People with Rare Diseases.
International journal of environmental research and public health
Aug 19, 2020
This research provides a biomedical ontology to adequately represent the information necessary to manage a person with a disease in the context of a specific patient. A bottom-up approach was used to build the ontology, best ontology practices descri...
The use of machine learning in rare diseases: a scoping review.
Orphanet journal of rare diseases
Jun 9, 2020
BACKGROUND: Emerging machine learning technologies are beginning to transform medicine and healthcare and could also improve the diagnosis and treatment of rare diseases. Currently, there are no systematic reviews that investigate, from a general per...
Artificial Intelligence System Approaching Neuroradiologist-level Differential Diagnosis Accuracy at Brain MRI.
Radiology
Apr 7, 2020
Background Although artificial intelligence (AI) shows promise across many aspects of radiology, the use of AI to create differential diagnoses for rare and common diseases at brain MRI has not been demonstrated. Purpose To evaluate an AI system for ...
Detection of Rare Objects by Flow Cytometry: Imaging, Cell Sorting, and Deep Learning Approaches.
International journal of molecular sciences
Mar 27, 2020
Flow cytometry nowadays is among the main working instruments in modern biology paving the way for clinics to provide early, quick, and reliable diagnostics of many blood-related diseases. The major problem for clinical applications is the detection ...
Rare diseases 2030: how augmented AI will support diagnosis and treatment of rare diseases in the future.
Annals of the rheumatic diseases
Mar 24, 2020
Automatic detection of rare pathologies in fundus photographs using few-shot learning.
Medical image analysis
Jan 28, 2020
In the last decades, large datasets of fundus photographs have been collected in diabetic retinopathy (DR) screening networks. Through deep learning, these datasets were used to train automatic detectors for DR and a few other frequent pathologies, w...
Improving rare disease classification using imperfect knowledge graph.
BMC medical informatics and decision making
Dec 5, 2019
BACKGROUND: Accurately recognizing rare diseases based on symptom description is an important task in patient triage, early risk stratification, and target therapies. However, due to the very nature of rare diseases, the lack of historical data poses...
Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?
Genes
Nov 27, 2019
The amount of data collected and managed in (bio)medicine is ever-increasing. Thus, there is a need to rapidly and efficiently collect, analyze, and characterize all this information. Artificial intelligence (AI), with an emphasis on deep learning, h...
Common pre-diagnostic features in individuals with different rare diseases represent a key for diagnostic support with computerized pattern recognition?
PloS one
Oct 10, 2019
BACKGROUND: Rare diseases (RD) result in a wide variety of clinical presentations, and this creates a significant diagnostic challenge for health care professionals. We hypothesized that there exist a set of consistent and shared phenomena among all ...
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