Drs. Annie Ciernia (pictured) and Sheila Teves (not pictured) are recipients of the 2022/2023 Precision Health Catalyst Grant award for their project entitled “Human SPI1 variants alter microglial immune memory to promote neuroinflammation”
Read a summary of the project here.
“This project aims to identify how GWAS hits in non-coding regions confer disease risk or protection. We will specifically examine a novel human variant in a microglia-specific enhancer that increases risk of Alzheimer’s Disease. Findings will allow for precision medicine therapies to ameliorate disease risk and promote healthy aging.”
1. Can you tell us about the precision health research work you’re collaborating on?
We aim to understand how genetic changes in non-coding regions of DNA can increase or decrease the risk of neurodegenerative diseases. Specifically, we are studying a new human genetic variant that affects microglia (brain immune cells) and increases the risk of Alzheimer’s Disease. We are studying a specific genetic variant linked to Alzheimer’s Disease (AD) in a new mouse model where the mouse genome contains the human high risk AD variant. Our research examines how this genetic variant affects microglia under normal and inflammatory conditions. We are investigating how the AD risk variant changes microglial functions, such as cleaning up brain debris and changing shape. Our findings could lead to personalized medical treatments to reduce disease risk and support healthy aging.
2. What results have you seen so far?
We have found the high AD risk variant alters microglial responses to inflammation by regulating inflammatory gene expression. We also see changes in microglial cellular shape in the mutant animals, indicative of increased inflammation in the brain. We see these changes in both sexes of mice, and future work will examine how the microglia are impacted by aging in the AD risk variant mice.
3. From your perspective, what do you think is exciting about the future direction of precision health?
I am excited about being able to tailor medical treatments to individual genetic, environmental, and lifestyle factors. This means treatments can be more effective and have fewer side effects because they are specifically designed for each person’s unique biological makeup and life experience.
About Annie Ciernia
Dr. Annie Ciernia is an Assistant Professor at the University of British Columbia and currently the Tier 2 Canada Research Chair in Understanding Gene Expression in the Brain. Her lab is located at the University of British Columbia in Vancouver, Canada in the Department of Biochemistry and Molecular Biology and the Centre for Brain Health. Dr. Ciernia’s lab focuses on understanding how our genetics and environment both influence brain development through regulation of gene expression. Much of her lab’s current focus is on understanding how events in early-life impact interactions between the developing nervous and immune systems, leading to altered brain development and function.