Dr. Dervla Connaughton
Clinical Lead
Dr. Connaughton is a clinician-researcher and nephrologist with extensive expertise and leadership in renal genetics in both pediatric and adult patients. She is the clinical lead of the Ontario Health, Provincial Genetics Program – Renal Genetics Expert Group and clinical lead of the Renal Genetics Program in Southwestern Ontario.
Current Research
Our research program focuses on understanding the role genetics play in kidney disease. We study both the genetic basis and epidemiology of all forms of chronic kidney disease in both adult and pediatric populations. Specifically, we focus on establishing and characterizing the molecular etiology of kidney disease using next generation sequencing techniques including gene panel sequencing, whole exome, and genome sequencing. We are also studying how genetic testing and receiving a genetic diagnosis can impact patients, caregivers, family members and the healthcare system. Next generation sequencing is an advanced type of genetic analysis which involves scanning either part or all of your DNA looking for changes or defects in your DNA that can cause kidney disease.
We are fortunate to have established excellent collaborative links with researchers in Ontario, Canada and internationally — all working together to develop a better understanding of genetic kidney disease and to move the field of kidney genetics forward on a global level.
Personalized Medicine in Chronic Kidney Disease
Recently investigators have begun to unravel the genetic basis of CKD in adults with studies now suggesting that genetic CKD is more common than previously considered. Anywhere between 10% and 36% of adults with CKD never find out why they develop CKD. Many of these patients undergo multiple investigations such as a kidney biopsy without ever finding out the true cause of their CKD.
Interestingly, we found a genetic defect in almost half of these patients. Despite this, advanced genetic testing for adults with CKD is not routinely performed. Using advanced types of genetic testing such as whole exome or genome sequencing, our goal is to identify the genetic cause of CKD in genes that are already known to cause CKD and to discover new genetic causes of CKD by detecting rare genetic defects that have not yet been described.
Genomics in Living Kidney Donor Studies
We are currently investigating the role of genetic assessment in living kidney donors to determine how genetics can inform the practice and safety of living kidney donation, including transplant center medical policies on donor selection, patient counseling, informed consent, and long-term patient follow-up and care. This work focuses on how we can firstly develop guidelines on who and when to perform genetic testing and secondly how we can successfully integrate genetic assessment and testing into routine clinical care for patients with kidney disease.
Southwestern Ontario Renal Disease Genetic Registry and Biobank (SWORD-Gen)
We have ongoing recruitment to the Southwestern Ontario Renal Disease Genetic Registry and Biobank. The idea behind building this registry is to learn more about the natural history and genetic architecture of all subtypes of genetic kidney disease. The registry is constantly growing and includes over 500 participants with all subtypes of kidney disease and their family members.
Tuberous Sclerosis Project
In collaboration with Dr Andrew House, a nephrologist also practicing at the University Hospital in London Ontario, we investigate the underlying genetic contribution in patients with Tuberous Sclerosis Complex.
Fellowship Training
One of the major barriers to the successful integration of genetic assessment into the field of nephrology is the lack of education and training currently available in the field of kidney genetics. To address this need, we plan to establish a dedicated kidney genetic fellowship for nephrology trainees. This one-year program will provide a comprehensive training on both the assessment of patients and families with suspected genetic kidney disease and well as training on performing and interpreting genetic analysis.
Please contact us directly for further information on this training opportunity.