A new approach developed for early diagnosis of renal disease

Primary tubulopathies is a genetic disorder that causes stunted growth, renal failure etc in children and has a very harmful effect on the early development of the patients as well as their quality of life. RenalTube research project has developed a clinical database to store diagnostic data on primary tubulopathies patients. The aim is to address the in curable condition and counter it as much as possible. The project was headed by Dr. Fernando Santos and Doctor Helena Gil-Peña and the team consisted of 410 international clinical researchers. It was set up 3 years ago and since then detailed information was collected on over 400 patients worldwide. Automatic gene sequencing was done which led to genetic diagnosis of the patients. The researchers found new mutations in some of the patients. The research teams are looking at patients affected by 23 different types of pathologies.