PURPOSE: Globally, approximately 300 million people live with a rare disease, while in the United States, nearly 30 million, or 1 in 10 Americans, have a rare disease or disorder (RD) (The Lancet Global Health. Lancet Glob Health 2024. https://doi.or...
BACKGROUND: Patients with rare diseases often face prolonged diagnostic journeys due to the low prevalence and diverse clinical presentations of these conditions. In Germany, specialized centers for rare diseases, established at university hospitals,...
Rare disease detection and classification is one of the most significant challenges in the application of Natural Language Processing techniques to the analysis and extraction of information from biomedical texts. In this paper, we present a novel re...
BACKGROUND: Successfully completing clinical trials for rare and heterogeneous disorders, like spinal cord injuries (SCI), remains challenging, thereby reducing the ability to test and translate promising preclinical findings. We propose synthetic co...
Generative Pre-trained Transformer (ChatGPT) is a web-based artificial intelligence assistant with the potential to provide information, answer questions, and make recommendations on various topics. Rare cardiovascular diseases (rCVD) are among the h...
BACKGROUND: Rare bone diseases (RBDs) are an important group of conditions characterized by abnormalities in bone and cartilage. Their large number, individual rarity, and heterogeneity make accurate and timely diagnosis challenging. Establishing cor...
Neurological Disorders (ND) affect a large portion of the global population, impacting the brain, spinal cord, and nerves. These disorders fall into categories such as NeuroDevelopmental (NDD), NeuroBiological (NBD), and NeuroDegenerative (ND) disord...
Although significant advances have been made in the early detection of many cancers, challenges remain in the early diagnosis of rare cancers, including Wilms tumor, Clear Cell Sarcoma of the Kidney, Neuroblastoma, Osteosarcoma, and Acute Myeloid Leu...
The use of artificial intelligence (AI) techniques is significantly changing the analysis of medical images, accelerating and standardizing the diagnosis process. To train an AI model, however, a large dataset is typically required, especially when u...
BACKGROUND: Rare diseases often present with a variety of clinical symptoms and therefore are challenging to diagnose. Fabry disease is an x-linked rare metabolic disorder. The severity of symptoms is usually different in men and women. Since therape...
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