Kids Kidney Research

Kids Kidney Research have agreed funding for a new research project at The Institute of Child Health, based at Great Ormond Street Hospital. 

The project is investigating why individuals with DiGeorge Syndrome often have kidney malformations.   DiGeorge syndrome presents with heart defects, palatal anomalies, low blood calcium, and  problems with the immune system. These defects are known to be caused by a deficiency of the gene Tbx1 (pronounced ‘tea-bee X one’), which produces a protein whose role during development is to switch other genes on. As many as one third of people with DiGeorge syndrome are born with structural abnormalities of the urinary tract and kidneys, and some of them will have quality of life compromised by failing kidney function. The aim of the project is to establish whether Tbx1 is ‘active’ in the kidney before birth and whether a lack of Tbx1 makes a contribution to these kidney malformations. If a preliminary study shows that Tbx1 is indeed involved in kidney development, further funding will be sought to work out exactly how it directs normal growth of the kidney before birth.