Creation of Zebrafish Models to Provide Unique Insights into Impact of SETBP1-HD

Austin, TX — April 19, 2022 – Creating animal models is a monumental milestone in any genetic research effort as it mimics a disease in a repeatable, observable manner. These models allow researchers to test, observe, modify and repeat trials on cells, tissues and organisms until a desired outcome is met. Ultimately, providing insights into potential therapeutic interventions in the future, as well as the benefits and concerns that may be presented as a result.

SETBP1 Society has partnered with The Rare Diseases: Models and Mechanisms Network (RDMM) to fund a 1 year, $25,000 grant to understand why decreased SETBP1 function leads to SETBP1 haploinsufficiency disorder (SETBP1-HD). The grant has since been awarded to Dr. Maria Aristizabal and her co-investigator, Dr. Alex Little, of Queen’s University in Kingston, located in Ontario, Canada. Using state-of-the-art genetic engineering methods, they will be creating a Danio rerio (zebrafish) model to introduce genetic mutations commonly observed in SETBP1-HD patients.

Due to their fast breeding and ability to produce large amounts of offspring, zebrafish are a great candidate for high-throughput gene-editing research. Favorably, they carry a gene that is similar to the human SETBP1 gene and remain transparent during embryogenesis and early development. This allows researchers visual access to the environment in which different tissues are developing.

In speaking with Dr. Aristizabal, she shared her passion for understanding how DNA is packaged as well as how gene expression is regulated. When asked why she was drawn to SETBP1-HD research she said, “We know that cells employ a variety of mechanisms to regulate these processes but how this is done remains unknown…this work has potential to identify biomarkers and therapeutic targets for SETBP1-HD”. Dr. Little, co-investigator on this project, shares a similar perspective, “Understanding how this pathway functions will provide insight into whether developmental phenotypes remain plastic enough to be reversed, potentially with therapeutics, later in life.” The zebrafish are expected to be available and initially characterized in Q1 of 2023.

For more information about the SETBP1 Society: https://www.setbp1.org

Learn more about Dr. Maria Aristizabal: https://biology.queensu.ca/people/department/professors/maria-aristizabal/

Learn more about Dr. Alex Little: https://biology.queensu.ca/people/department/professors/alexander-little/

For more information, press only:
Kelsey Bennett
402-619-8695
info@setbp1.org