Dr. Caitlyn Vlasschaert, Ph.D.

Supervisor(s): Dr. Matthew Sampson
Award: KRESCENT Post-Doctoral Fellowship
Institution: Queen's University
Year: 2026-2028
Project Title: Are Carriers Truly Unaffected? Monoallelic Kidney Variants and CKD Risk
Topic(s): Genetics

Biography

Caitlyn Vlasschaert is a nephrology fellow at Queen’s University in Canada and an emerging clinician-scientist interested in understanding how inherited and acquired genetic variation contribute to kidney disease. She completed a PhD during internal medicine residency studying how age-related somatic mutations in blood cells influence kidney disease, and has published over 70 papers. Her work has appeared in leading journals including Nature, Nature Medicine, Nature Genetics, Cell Stem Cell, Journal of Clinical Investigation, Circulation, Blood, and JASN. Her research has been recognized with several honours, including being named a STAT Wunderkind in 2024, receiving an American Society for Clinical Investigation Emerging-Generation Award in 2023, winning Best Oral Presentation and the Innovation & Discovery Awards from the Canadian Society of Nephrology in 2024, and receiving Queen’s University’s Governor General’s Academic Gold Medal in 2024.

Lay Summary

Background: Chronic kidney disease (CKD) affects millions of people worldwide and often develops silently over many years. Many individuals are diagnosed only after substantial and sometimes irreversible kidney damage has occurred. While diabetes, high blood pressure, and aging are well-known risk factors, genetics also plays an important role in determining who develops kidney disease. Some kidney diseases are caused by changes in a single gene and follow “recessive” inheritance, meaning a person must inherit two faulty copies of a gene to develop disease. People who carry only one faulty copy are commonly told they are “carriers” and are assumed to be healthy. However, large-scale genetic studies are increasingly challenging this assumption. Growing evidence suggests that some carriers of genes linked to recessive kidney disease may have a higher risk of developing kidney problems later in life, even without a classic childhood genetic condition. This possibility has important implications. Family members of patients with genetic kidney disease are often classified as carriers, reassured that they are unaffected, and in some cases considered as potential living kidney donors. If carriers do have higher long-term risk of kidney disease, current approaches to genetic counseling, risk assessment, and donor evaluation may need to be updated.

Purpose: We aim to determine whether people who carry a single faulty copy of genes traditionally linked to recessive kidney disease have an increased risk of developing CKD in adulthood. We also seek to understand why some carriers develop kidney disease while others do not. We hypothesize that overall genetic background and common health conditions such as diabetes and high blood pressure influence this risk.

Methods: We will analyze large population databases that link genetic data with long-term health records from hundreds of thousands of participants. We will identify individuals who carry single faulty copies of kidney disease genes and compare their kidney outcomes with those of non-carriers. We will focus on key genes such as NPHS1, COL4A3, COL4A4, and APOL1, while also examining many additional kidney-related genes. We will test whether kidney risk among carriers differs according to diabetes status, blood pressure, ancestry, and overall genetic risk. By integrating genetic and clinical information, we aim to develop models that better predict which carriers are most likely to develop CKD.

Anticipated Outcomes: We expect to identify specific genes and genetic variants for which carrier status increases the risk of adult-onset CKD. We also anticipate clarifying how genetic background and common medical conditions modify this risk.

Patient Engagement: This study uses existing genetic and clinical data; therefore, patients are not directly involved in study design. Findings will be shared with patient organizations and clinical partners, and future work will incorporate patient input to guide counseling and communication strategies.

Relevance to Patients and Community: This research may change how carrier status is interpreted. If carriers are found to have higher risk, they may benefit from earlier monitoring and preventive care. Results may also improve the safety of living kidney donation and provide families with more accurate information about their health.

Conclusion: By redefining what it means to be a “carrier,” this project aims to improve genetic counseling, personalize kidney disease risk assessment, and ultimately support earlier and more effective kidney care.