Imagine Institute

This study aims to train an artificial intelligence system to recognize rare genetic diseases by analyzing front and profile facial photographs. Researchers will collect photos from 22,000 patients with craniofacial features linked to rare conditions, as well as control subjects.…

This study follows 500 children and adults with rare genetic disorders called type I interferonopathies, which cause severe inflammation and neurological problems. Researchers will track how the disease progresses over time and look for biological markers to improve diagnosis and…

This study surveys 300 young adults aged 15-25 with rare genetic diseases to understand the difficulties they face in getting education, internships, and stable jobs. Participants fill out a short form about their experiences. The goal is to find what helps or hinders their path …

This study is creating a large database of genetic and physical information from 3100 children with craniofacial abnormalities, such as craniosynostosis and Pierre Robin sequence. Researchers will analyze this data to understand why these conditions vary so much from person to pe…

This study will collect health information from 13,000 children and adults with mast cell disorders across 20 French medical centers. Researchers want to learn how common these diseases are, how they progress, and what symptoms patients have. The goal is to improve diagnosis and …

This study looks at a rare genetic kidney disease called nephronophthisis, which often leads to kidney failure before age 20. Researchers will collect urine and blood samples from 310 patients and healthy relatives to study how the disease works. The goal is to identify potential…

This study aims to learn more about rare genetic diseases that affect both the immune system and the nervous system. Researchers will collect medical information and samples from 1,000 participants, including patients, their relatives, and healthy volunteers. The goal is to bette…