Rare Disease

Rare diseases, affecting a significant portion of the global population, pose diagnostic and therapeutic challenges due to their infrequent occurrence and diverse presentations. Current research focuses on leveraging machine learning, particularly deep learning models like convolutional neural networks (CNNs) and transformer-based architectures, along with natural language processing (NLP) techniques, to analyze diverse data sources including medical images, clinical notes, and social media discussions to improve diagnosis and treatment. These advancements hold significant promise for enhancing diagnostic accuracy, personalizing treatment strategies, and ultimately improving patient outcomes, particularly for conditions currently underdiagnosed or misdiagnosed.

Papers

November 4, 2024

Zebra-Llama: A Context-Aware Large Language Model for Democratizing Rare Disease Knowledge
Karthik Soman, Andrew Langdon, Catalina Villouta, Chinmay Agrawal, Lashaw Salta, Braian Peetoom, Gianmarco Bellucci, Orion J Buske
Large Language Model Language Model Retrieval Augmented Whispering Llama Rare Disease Contextualized Language Model

August 15, 2024

Assessing and Enhancing Large Language Models in Rare Disease Question-answering
Guanchu Wang, Junhao Ran, Ruixiang Tang, Chia-Yuan Chang, Chia-Yuan Chang, Yu-Neng Chuang, Zirui Liu, Vladimir Braverman, Zhandong Liu, Xia Hu
Rare Disease

August 8, 2024

Pediatric TSC-Related Epilepsy Classification from Clinical MR Images Using Quantum Neural Network
Ling Lin, Yihang Zhou, Zhanqi Hu, Dian Jiang, Congcong Liu, Shuo Zhou, Yanjie Zhu, Jianxiang Liao, Dong Liang, Hairong Zheng, Haifeng Wang
Neural Network Quantum Computing Quantum Physic Brain Tumor Multi Contrast Deep Quantum Rare Disease Pediatric Patient Epipolar Geometry

May 16, 2024

A Hybrid Framework with Large Language Models for Rare Disease Phenotyping
Jinge Wu, Hang Dong, Zexi Li, Haowei Wang, Runci Li, Arijit Patra, Chengliang Dai, Waqar Ali, Phil Scordis, Honghan Wu
Large Language Model App to App Retrieval Unstructured Clinical Unstructured Text Data Hybrid Framework Refining Method Rare Disease

May 12, 2024

Understanding Sarcoidosis Using Large Language Models and Social Media Data
Nan Miles Xi, Hong-Long Ji, Lin Wang
Social Medium Data Rare Disease Personalized Treatment Tuberculosis Detection

April 25, 2024

Meta-Transfer Derm-Diagnosis: Exploring Few-Shot Learning and Transfer Learning for Skin Disease Classification in Long-Tail Distribution
Zeynep Özdemir, Hacer Yalim Keles, Ömer Özgür Tanrıöver
LeArning Abstract Transfer Learning Image Datasets Long Tailed Distribution Dermatological Disease Diagnosis Rare Disease

March 26, 2024

Leave No Patient Behind: Enhancing Medication Recommendation for Rare Disease Patients
Zihao Zhao, Yi Jing, Fuli Feng, Jiancan Wu, Chongming Gao, Xiangnan He
Self Supervised Pre Training Patient Friendly Language Medication Recommendation Rare Disease Sequence Prediction

March 8, 2024

A Concept-based Interpretable Model for the Diagnosis of Choroid Neoplasias using Multimodal Data
Yifan Wu, Yang Liu, Yue Yang, Michael S. Yao, Wenli Yang, Xuehui Shi, Lihong Yang, Dongjun Li, Yueming Liu, James C. Gee, Xuan Yang, Wenbin Wei, Shi Gu
Multimodal Data Medical Diagnosis Medical AI Concept Based Rare Disease Choroid Segmentation

March 1, 2024

AutoRD: An Automatic and End-to-End System for Rare Disease Knowledge Graph Construction Based on Ontologies-enhanced Large Language Models
Lang Cao, Jimeng Sun, Adam Cross
Knowledge Graph End to End Entity Extraction BiOmedical Ontology Medical Domain Knowledge Rare Disease

February 12, 2024

Weakly Supervised Detection of Pheochromocytomas and Paragangliomas in CT
David C. Oluigboa, Bikash Santra, Tejas Sudharshan Mathai, Pritam Mukherjee, Jianfei Liu, Abhishek Jha, Mayank Patel, Karel Pacak, Ronald M. Summers
Weakly Supervised Rare Disease Chest Computed Tomography

February 9, 2024

RareBench: Can LLMs Serve as Rare Diseases Specialists?
Xuanzhong Chen, Xiaohao Mao, Qihan Guo, Lun Wang, Shuyang Zhang, Ting Chen
Knowledge Graph Rare Disease

February 6, 2024

Detection Transformer for Teeth Detection, Segmentation, and Numbering in Oral Rare Diseases: Focus on Data Augmentation and Inpainting Techniques
Hocine Kadi, Théo Sourget, Marzena Kawczynski, Sara Bendjama, Bruno Grollemund, Agnès Bloch-Zupan
Data Augmentation Segmentation Based Approach Detection Transformer Rare Disease Panoramic Radiograph

December 23, 2023

GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts
Da Wu, Jingye Yang, Cong Liu, Tzung-Chien Hsieh, Elaine Marchi, Justin Blair, Peter Krawitz, Chunhua Weng, Wendy Chung, Gholson J. Lyon, Ian D. Krantz, Jennifer M. Kalish, Kai Wang
Face Recognition Clinical Text Rare Disease Gestalt Theory

December 11, 2023

Large Language Models with Retrieval-Augmented Generation for Zero-Shot Disease Phenotyping
Will E. Thompson, David M. Vidmar, Jessica K. De Freitas, John M. Pfeifer, Brandon K. Fornwalt, Ruijun Chen, Gabriel Altay, Kabir Manghnani, Andrew C. Nelsen, Kellie Morland, Martin C. Stumpe, Riccardo Miotto
Zero Shot Retrieval Augmented Generation Electronic Health Record Structured Clinical Rare Disease

November 29, 2023

Long-tailed multi-label classification with noisy label of thoracic diseases from chest X-ray
Haoran Lai, Qingsong Yao, Zhiyang He, Xiaodong Tao, S Kevin Zhou
Noisy Label Chest X Ray Multi Label Classification Medical Information Mart for Intensive Rare Disease Long Tailed Multi Label

November 22, 2023

Comparison of pipeline, sequence-to-sequence, and GPT models for end-to-end relation extraction: experiments with the rare disease use-case
Shashank Gupta, Xuguang Ai, Ramakanth Kavuluru
MAESTRO Dataset Relation Extraction Information Extraction Sequence to Sequence Generative Pre Trained Transformer Sequence Model Pipeline System Sequence to Sequence Model Rare Disease

August 24, 2023

Large Language Models Vote: Prompting for Rare Disease Identification
David Oniani, Jordan Hilsman, Hang Dong, Fengyi Gao, Shiven Verma, Yanshan Wang
Large Language Model Generative Large Language Model Generative LLM Rare Disease

January 20, 2023

A Comparative Analysis of CNN-Based Pretrained Models for the Detection and Prediction of Monkeypox
Sourav Saha, Trina Chakraborty, Rejwan Bin Sulaiman, Tithi Paul
Data Detection Human Prediction Comparative Study Rare Disease Monkeypox Disease Infected Individual

November 12, 2022

Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles
Alexander Hustinx, Fabio Hellmann, Ömer Sümer, Behnam Javanmardi, Elisabeth André, Peter Krawitz, Tzung-Chien Hsieh
Model Ensemble Face Image Datasets Rare Disease Disorder Classification Performance

August 9, 2022

Representation learning of rare temporal conditions for travel time prediction
Niklas Petersen, Filipe Rodrigues, Francisco Pereira
Representation Learning Time Series Consistent Representation Rare Disease Travel Time Estimation Vector Space Model

Rare Disease

Papers

Zebra-Llama: A Context-Aware Large Language Model for Democratizing Rare Disease Knowledge

Assessing and Enhancing Large Language Models in Rare Disease Question-answering

Pediatric TSC-Related Epilepsy Classification from Clinical MR Images Using Quantum Neural Network

A Hybrid Framework with Large Language Models for Rare Disease Phenotyping

Understanding Sarcoidosis Using Large Language Models and Social Media Data

Meta-Transfer Derm-Diagnosis: Exploring Few-Shot Learning and Transfer Learning for Skin Disease Classification in Long-Tail Distribution

Leave No Patient Behind: Enhancing Medication Recommendation for Rare Disease Patients

A Concept-based Interpretable Model for the Diagnosis of Choroid Neoplasias using Multimodal Data

AutoRD: An Automatic and End-to-End System for Rare Disease Knowledge Graph Construction Based on Ontologies-enhanced Large Language Models

Weakly Supervised Detection of Pheochromocytomas and Paragangliomas in CT

RareBench: Can LLMs Serve as Rare Diseases Specialists?

Detection Transformer for Teeth Detection, Segmentation, and Numbering in Oral Rare Diseases: Focus on Data Augmentation and Inpainting Techniques

GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts

Large Language Models with Retrieval-Augmented Generation for Zero-Shot Disease Phenotyping

Long-tailed multi-label classification with noisy label of thoracic diseases from chest X-ray

Comparison of pipeline, sequence-to-sequence, and GPT models for end-to-end relation extraction: experiments with the rare disease use-case

Large Language Models Vote: Prompting for Rare Disease Identification

A Comparative Analysis of CNN-Based Pretrained Models for the Detection and Prediction of Monkeypox

Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles

Representation learning of rare temporal conditions for travel time prediction