A Causal Discovery Workflow for Rare Diseases: Experts-in-the-Loop Analysis of Sparse Longitudinal Data

WHO adopts historic resolution on rare diseases - Fondazione Gianni Benzi Onlus

24 May 2025, Geneva Switzerland The Seventy-eighth World Health Assembly (WHA78) adopted a landmark resolution to formally recognise rare diseases as a global health priority. The resolution aims to improve equity and inclusion for more than 300 million people living with one of over 7000 distinct rare conditions, 70% of which begin in childhood. People living with a rare disease, along with their families and caregivers, frequently experience d…

A Causal Discovery Workflow for Rare Diseases: Experts-in-the-Loop Analysis of Sparse Longitudinal Data

Causal networks provide a mechanistic understanding of clinical phenomena, allowing for personalized and explainable decision-making. Causal discovery, namely the task of constructing such models, is challenging, particularly for rare diseases, where observational data are sparse, medical knowled...

New AI tool may help physicians diagnose rare diseases like AADC

Researchers in Germany are creating an artificial intelligence (AI) tool to help physicians diagnose rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency, and connect their patients to specialists. “At the end of the project, physicians will be able to upload a patient’s symptoms and medical results onto a website,” Michael von Wagner, MD, the chief medical information officer at University Hospital Frankfurt, said in a u…