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Understanding the link between genetics and the immune system in the development of idiopathic nephrotic syndrome

20 February 2024

Dr Gabriel Doctor from University College London has received a Kidney Research UK clinical training fellowship award of £300,000 to investigate the genetic causes of idiopathic nephrotic syndrome (INS).

The problem with idiopathic nephrotic syndrome

INS is a serious condition where the body’s immune defence system malfunctions and attacks the tiny filtering units of the kidneys. This damages the filters and allows too much protein to escape into the urine, causing swelling and potentially leading to problems including blood clots, infections, high cholesterol and kidney failure.

It is mostly diagnosed in childhood, and treatments usually involve high doses of steroids, which can have serious side-effects and also do not work for all patients.  

brown haired man with a checked shirt standing in front of a white board
Dr Gabriel Doctor

Understanding the causes of idiopathic nephrotic syndrome

Gabriel aims to understand more precisely what causes INS to develop and persist. He will perform a ‘genome-wide association study’ - a type of study where researchers examine the genes of many people to find out which ones might be linked to certain traits or health conditions - of roughly 1900 patients with INS, from different parts of the world, to search for clues that point to the cause of the malfunction.   

Previous work in Gabriel’s group has shown that a gene called CALHM6 may be involved in the development of INS, particularly affecting a type of immune cell called a B cell. He believes that CALHM6 causes some B cells to become active when they shouldn’t be, causing INS, and he will test this theory in laboratory models. 

What this could mean for patients

If we can understand exactly how INS appears and continues, this could help researchers to develop new, targeted treatments that may have fewer side effects than steroids and may also work in patients who don’t respond to steroids. 

“For some people, INS can be a recurring issue throughout life and lead to serious health complications. We desperately need to understand it better so we can offer better treatments and outlook for these patients. I am enormously grateful to Kidney Research UK for their generous support of my research to address this problem, and for the opportunity to connect with their network of patients and other researchers in this field.” Dr Gabriel Doctor

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