Imagine Institute

This study looks at the difficulties young people aged 15 to 25 with rare genetic diseases face when trying to get into training, college, or jobs. Researchers will follow 300 participants to see what helps or hurts their success. The goal is to find ways to better support their …

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 better understand rare genetic diseases called type 1 interferonopathies, which cause the immune system to be overactive and can affect the brain and joints. Researchers will follow 500 children and adults over time to track how the disease changes and to find …

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…

This study is creating a large database of genetic and physical information from 3100 people with craniofacial conditions like craniostenosis and Pierre Robin sequence. The goal is to better understand why these disorders vary so much between individuals, leading to more accurate…

This study collects health information from up to 13,000 people in France with mast cell disorders, such as mastocytosis and mast cell activation syndrome. The goal is to learn how common these diseases are, how they affect patients, and how they are diagnosed and managed. No new…

This study aims to train an artificial intelligence (AI) system to recognize rare genetic diseases by analyzing front and side facial photographs. About 30-40% of rare diseases cause subtle changes in facial features that can be hard for doctors to spot, leading to long delays in…