New study will use genetic sequencing to find new forms of kidney disease

Dr. Mark Elliott, Clinical Nephrologist at St. Paul’s Hospital, is leading a research project funded by the Carraresi Foundation Early Career Clinician Investigator Award that aims to use genetic sequencing to identify new forms of kidney disease. 

Dr. Elliott is a Clinical Assistant Professor in the University of British Columbia’s Division of Nephrology and serves as the lead for BC’s provincial Kidney Genetics Clinic. The focus of both his clinical and research work is on genetic forms of kidney disease. He was a 2024 recipient of the Carraresi Foundation Early Career Clinician Investigator Award, which supports early-career researchers in pursuing research projects. 

Many patients lack explanation for kidney disease 

Chronic kidney disease (CKD) affects one in ten Canadians. In addition to diabetes and hypertension, genetics are becoming increasingly recognized as an important cause of the condition. However, despite undergoing traditional testing, bloodwork, and even kidney biopsies, between 10 and 15% of patients lack a diagnosed reason for their CKD. 

Having an accurate diagnosis directly impacts a patient’s care, allowing their doctor to prescribe targeted therapies and avoid ones that are known to be less effective, potentially preventing disease progression. 

“Ultimately, we can’t treat things effectively if we don’t know what’s going on,” says Dr. Elliott.  

He hypothesizes that some of these patients’ CKD could be caused by an as-yet-unknown genetic form of kidney disease. His funded project aims to identify this through genetic testing patients with unexplained CKD and their biological relatives.  

Genetic testing made possible with award funding 

Dr. Elliott’s study will analyze data produced by sequencing patients’ genomes to identify new genetic changes that could potentially explain why their kidney disease developed.

“We can then diagnose them appropriately, help them understand what their journey with kidney troubles is going to look like, and then hopefully, in the future, look towards leveraging that to treat them better,” says Dr. Elliott. The ultimate goal would be to create specific treatments tailored to the cause of these patients’ conditions, which would prevent their kidneys from declining in function over time.

The most cost-intensive aspect of this research project is the genetic testing itself. The flexible funding available through the Carraresi Foundation Early Career Clinician Investigator Award made this possible.

“The funding through Carraresi has been instrumental in being able to access genetic testing for patients that otherwise we wouldn’t have been able to do,” says Dr. Elliott.

Receiving this award was helpful for Dr. Elliott in obtaining further funding for this project. This was the first piece of competitive funding he had been awarded, and it allowed him to demonstrate the practicality and potential benefit of this study. He was able to leverage the preliminary work enabled by this award to apply for the Michael Smith Health Research BC Health Professional Investigator Award, which he received in 2025. 

Identifying new disease would have global implications 

The full study is nearly ready to launch. Dr. Elliott has identified most of the eligible patients in the province who are interested in participating, and the data pipeline is set up and prepared for operation. The genetic testing will take place at Canada’s Michael Smith Genome Sciences Centre in Vancouver. After final ethical approvals are in place, enrollment will officially begin.  

Identifying a new form of genetic kidney disease would have global implications. If it is found in patients within B.C., it is likely affecting people all over the world. 

“The hope is that we’ll be able to identify one of these unknown forms of kidney disease that will help us to diagnose it in the broader population,” says Dr. Elliott.  

Providence Research is currently inviting applications for the 2026 Carraresi Foundation Early Career Clinician Investigator Award. To learn more about the award and how to apply, visit our website. 

Providence Research and St. Paul’s Foundation are grateful to the Carraresi Foundation, in memory of Augusto Carraresi, for its interest in supporting early career research at Providence.