- enrolling by invitation
Sanger Human Cell Atlasing Project
This project aims to create a detailed map of all human cells, like a biological atlas. By understanding what makes each cell type unique, we hope to better understand how our bodies work, how diseases develop, and find new ways to diagnose and treat them. It's a big step towards future medicine.
United Kingdom - recruiting
Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem Cells
This study uses skin, urine, or blood samples from people with genetic conditions and healthy volunteers. Scientists turn these samples into special stem cells called iPSCs. These cells help us understand diseases better and test new treatments to help people in the future.
United Kingdom - recruiting
Natural History of Type 1 Interferonopathies: Insights From a European Cohort
This study looks at rare genetic conditions called Type 1 interferonopathies, which affect the immune system and can cause various health problems. Researchers want to understand how these conditions develop over time in both children and adults to find better ways to diagnose and treat them.
Austria · Belgium · Croatia - active not recruitingPHASE3
Long Term Extension Study in Patients With Primary Hyperoxaluria
This study offers long-term treatment with DCR-PHXC for people, including children, with Primary Hyperoxaluria (PH). It checks if the treatment is safe and works well over time for this rare genetic kidney condition.
United States · Australia · Canada