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Genetic Studies into Kidney Function
Investigating the genes behind Renal Fanconi Syndrome (an important part of Lowe Syndrome), which is a group of kidney disorders leading to growth failures and bone problems in children and adults, sometimes leading to overall kidney failure, in order to develop rational treatment ideas.
Charity information: The Lowe Syndrome Trust
Renal Fanconi Syndromes comprise a group of particular kidney disorders leading to growth failure and bone problems in children (rickets, fractures) and adults. Some Renal Fanconi syndromes can also lead to overall kidney failure and the need for renal replacement therapies (dialysis, transplantation) becomes necessary. Renal Fanconi syndromes can be part of a variety of different clinical problems in children as well as adults.
The knowledge of the faulty gene is absolutely mandatory to understand: 1. ) how the kidney works, 2) how this faulty gene can cause trouble, 3) and to develop rational treatment ideas. Our work has identified regions in the human genome where the faulty genes lie for two of the familial forms of the syndrome. However, these regions contain up to 200 genes and we need to investigate all these genes thoroughly in order to find the problem and hence develop treatment.
Investigate the genes that are behind the Renal Fanconi Syndrome.
Activities» Sequence all the genes involved and investigate them thoroughly.
What success will look like
Success will be identifying the faulty genes, understanding how the kidneys work with respect to the syndrome, which may lead to prevention of treatment of the disorder.
The findings may also have implications for much more common kidney diseases like acute kidney failure in which the same part of the kidney suffers the most as in Renal Fanconi syndrome. Understanding how this part of the kidney works therefore may also be helpful to get ideas about prevention or treatment of acute kidney failure, a most significant problem in newborn babies, children, and adults of any age. With this new knowledge, we will be able to get major funding from elsewhere.
A Regular email informing them of the progress will be sent out by the researchers working on the project.
Budget - Project Cost: £150,000Loading graph....
Amount Heading Description £150,000 Gene Sequence Identifying and Locating Faulty Genes
University College London and Great Ormond Street Children's Hospital Laboratories.
Understanding how this part of the kidney works may be helpful to get ideas about prevention or treatment of acute kidney failure, a most significant problem in newborn babies, children, and adults of any age. More importantly, it would finally enable us to tell parents / patients what their medical problem is and make a firm diagnosis possible including development of new and better medicines. The Project will benefit children and adult equally suffering from Lowe or Fanconi Syndrome.
We are the only UK based charity that offers funding into medical research investigating Lowe Syndrome, education and support to the families and sufferers of the disease. We are also the main funders of the research into this disease worldwide.
Read more about the Charity running this project.
Rofessor Robert Kleta, University College London
Professor Robert Unwin, University College London
Dr Detlef Bockenhauer,Great Ormond Street Chilldren’S Hospital