Imagine Institute

This study is testing a new AI tool designed to help doctors diagnose rare genetic diseases faster. The tool analyzes front and side facial photographs to look for subtle physical signs that might indicate a rare condition. It aims to reduce the long delays many patients face in …

This study aims to understand how rare genetic immune disorders called type 1 interferonopathies progress over time in both children and adults. Researchers will follow 500 European patients to track their symptoms, identify patterns, and find biological markers that could help w…

This study is creating a large database to understand why craniofacial disorders (affecting the skull and face) vary so much between people. It will collect and analyze medical records, genetic data, and images from 3,100 patients and some control participants. The goal is to gat…

This study aims to collect information about how many people in France have mast cell disorders and how these conditions affect them. Researchers will gather data from 13,000 patients across 20 specialized centers to better understand these rare diseases. The goal is to improve d…

This study aims to better understand a group of rare, severe genetic diseases that disrupt the immune system and brain, often leading to poor quality of life and high mortality. Researchers will study 1000 participants, including patients, their family members, and healthy contro…

This study aims to discover new drug targets for nephronophthisis, a rare genetic kidney disease that leads to kidney failure in children and young adults. Researchers will collect urine and blood samples from patients with the disease, their healthy family members, and other con…