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$415,000 National Institutes of Health Grant Funds Genetic Disorders Research at Idaho State

January 21, 2025

Ray Macaluso

The world is full of patterns: word patterns, number patterns, and behavior patterns, just to list a few. Now, an 91短视频 professor’s research into how a gene that governs embryonic pattern functions may change what we know about fetal development. 

Thanks to a $415,000 grant from the National Institutes of Health, Heather Ray, assistant professor in the biological sciences department at ISU, and her students will be looking into the role the gene Mannan-binding lectin serine protease (Masp1) plays in embryonic patterning. 

“As an embryo develops, a series of patterns are set up that will ensure the right structures form in the right places within the body and that the right number of cells is devoted to making each structure,” said Ray. “While research over the last 30 years has taught us a lot about what generates the patterns that govern brain and facial development, we don't have a complete picture. While Masp1 is known to be important in immune system function, we are finding that it also plays a different role in helping shape these patterns.” 

Researchers elsewhere have reported finding mutations of the Masp1 gene in patients with 3MC syndrome. “encompasses four disorders that were formerly considered to be separate: Mingarelli, Malpeuch, Michels, and Carnevale syndromes,” according to the National Library of Medicine. Though rare, 3MC syndrome often leads to facial abnormalities such as widely spaced eyes, narrowing of the eye openings, droopy eyelids, highly arched eyebrows, cleft lip and palate, and can include cognitive impairment. Using embryos of African clawed frogs as their model organism, Ray and her students will run a series of experiments centered around the Masp1 gene and note the changes to the embryos in terms of their skull and facial development.

“One way to learn about how a gene functions is to change its normal behavior in cells or in the embryo, in this case,” explained Ray. “We will do various experiments to either increase or decrease the total amount of Masp1 that is present in the embryo, and we will also introduce a mutated form of the gene to see how that impacts the development of the embryo.”


This new batch of experiments builds on a pilot project funded by the Idaho INBRE Program in 2023.

“Through the INBRE pilot project, we found that altering Masp1 leads to changes in the normal patterns of craniofacial development and gained insight into how Masp1 may be functioning at the molecular level,” said Ray. “Now, we will be able to build on these findings, including using mass spectrometry to identify the complex interactions of Masp1 with other molecules within embryonic cells.” 

“This project has been incredibly exciting as we explore a few genes that play a crucial role in the development of craniofacial structures,” said Mikayla Macaluso, graduate student. “It’s particularly thrilling to think that our research could offer valuable insights into how mutations in these genes contribute to a range of disorders. By better understanding these genes, we hope to explain why patients with the same genetic mutation can experience different symptoms or conditions.”

The research will span three years and is anticipated to involve eight to ten graduate and undergraduate students.

“Our hope with this research is to add to our understanding of how these early embryonic patterns are set up,” Ray said. “If we can determine how Masp1 functions in this process, we may be able to figure out ways to prevent developmental disorders such as 3MC Syndrome in the future.”

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