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Understanding the genetic causes of common childhood kidney disease

05 February 2024

Dr Horia Stanescu from University College London has been awarded a research project grant of £220,000 to investigate the genetic causes of steroid-sensitive nephrotic syndrome (SSNS). 

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’). 

A man with long hair, wearing glasses with a beard, with a rucksack on
Dr Horia Stanescu

The solution to find genetic causes

Horia and the team will combine and compare classical, short read sequencing with ‘long-read sequencing’, a technology that is good at detecting structural variants.

The team will analyse short-read and long-read sequencing from a set of samples taken from patients with SSNS to see if they can find any variants that had been missed in the previous genetic analyses of this disorder. 

What this might mean for patients

Understanding the genetic causes of SSNS will improve its diagnosis and is an important step towards improving treatments to make them more targeted with fewer side effects. 

“Our group at the Royal Free Hospital has extensive experience and a long track record in applying genetic analysis methods to elucidate the architecture of kidney disease. This grant will allow us to strengthen our collaboration with UCL Genomics, a research facility at the forefront of genomic data generation. To this end, we will recruit a PhD student to work at the interface between generating and interpreting sequence information, which will place us in a strong position to develop new methods for understanding the genetic mechanisms of SSNS. If successful, this will allow us to apply such methods to the study of other disorders as well.” Dr Horia Stanescu

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