Helping more patients and families get a diagnosis for their kidney condition
Dr Natalie Chandler, from Great Ormond Street Hospital NHS Foundation Trust, has been a awarded a £245,000 Kidney Research UK paediatric and rare diseases research project grant to test a new, detailed genetic testing method to help more people with inherited kidney disease get a clear and accurate diagnosis.
Genetic testing for kidney disease
When someone is living with a kidney condition, understanding the cause can make a huge difference. A clear diagnosis can guide the right treatment, give families clarity and reassurance, and help relatives understand whether they may also be at risk.
For many families, genetic testing can provide those answers. However, for up to 30–40% of people tested for an inherited kidney disease, current genetic tests still may not find a clear explanation.
The body’s instruction manual
Our genome is like an instruction manual written in DNA. It contains all the information our bodies need to grow, function and repair. Sometimes, there are changes in the genome which can stop the body working properly and this can affect the kidneys.
Genome sequencing looks for these changes by cutting DNA into millions of small pieces, reading them and fitting them back together using a reference map. But some parts of our DNA are repetitive and complex. When split into very small pieces, it can be difficult to see where they belong. This creates gaps that are hard to see clearly and sometimes, the answer may be hidden in those gaps.
Solving the jigsaw with bigger pieces
Dr Chandler specialises in turning new research into clinical services for patients. In this project, she will test a method called long-read sequencing. This approach reads much larger pieces of DNA, making complex regions easier to see and assemble. It is like solving a jigsaw with bigger pieces.
This could be particularly important for genes like PKD1 - one of the main genes linked to polycystic kidney disease (PKD). PKD1 has a complicated structure and repeating sections, making it especially difficult to read with current technology.
“Current technology is missing diagnoses, and we need to do something about it,” says Dr Chandler. “Our work can really help with genes like PKD1, which are often easy to misdiagnose.”
With permission, the team will reanalyse stored NHS samples using long-read sequencing. They will also gather views from patients and healthcare professionals about how this technology could be used in routine care.
What could this mean for kidney patients?
For families, not having a diagnosis can be incredibly difficult. It can leave unanswered questions about treatment and whether other relatives might be affected. By testing whether long-read sequencing can close the gaps left by current genetic testing methods, this project could pave the way for more accurate diagnoses.
“This grant from Kidney Research UK is a hugely important step forward for me professionally, but more importantly for the patients and families we support. My goal is to achieve diagnoses for as many people as possible. A clear genetic answer can bring reassurance and direction, and we hope to generate the strong evidence needed to make this technology available to the families who need it.” Dr Natalie Chandler.
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