Kids Kidney Research

We are pleased to publish the final report on a research project funded Kids Kidney Research, and which is entitled  "Roles for Tbx1 in normal and abnormal renal tract morphogenesis?"

The report, prepared by Professor Adrian Woolf of the Institute of Child Health, includes a summary of his findings, and outlines planned future work and outputs.   

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 project aimed to establish whether Tbx1 is ‘active’ in the kidney before birth and whether a lack of Tbx1 makes a contribution to these kidney malformations.  Results from the current project confirm that the Tbx1 gene is active in renal tract development and these new observations are consistent with the facts that kidney and ureter malformations are sometimes seen in individuals with DiGeorge syndrome. In the coming months, Professor Woolf and his team aim to continue the line of work to assess renal tracts of mice with mutations of the Tbx1 gene. They hope that the data will then be sufficient for a research paper. At that point, it may well be possible to extend the research by applying for a larger grant e.g. from Kidney Research UK, or other funding bodies.   For further details of this project, please click here.