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Understanding The Genetic Causes Of Childhood Kidney Disease –

Why is steroid-sensitive nephrotic syndrome a problem?

SSNS is the most common cause of kidney disease in children. It causes the kidneys to leak too much protein into the urine, resulting in swelling.

The disease is referred to as ‘steroid-sensitive’ if the patient responds well to steroid treatment, which helps to decrease the protein loss and control the symptoms. It is an autoimmune disorder – a disorder which occurs when the immune system, which is designed to protect the body from infection, mistakenly targets and attacks its own healthy cells, leading to damage and health problems.

We still don’t understand enough about the genetic causes of this disease, and this is probably due to technical limitations: the current approach is to analyse small fragments of a gene (known as ‘short-read sequencing’), looking for small errors that can cause disease. However, Horia and the team believe that we need to look at longer fragments of genetic material (DNA sequences) to check for additions, subtractions, or rearrangements that could change the structure of the DNA (known as ‘structural variants’).