Undergraduate Researcher return to map return to student search
Hometown:
Rathdrum, ID (Kootenai County)
School:
Idaho State University
Undergraduate student
Biomedical Sciences
Funded by EPSCoR Award:
GEM3 | OIA-1757324
Research Location(s):
Idaho State Univerity
COUNTIES: Bannock
LEGISLATIVE DISTRICT(S): District 29
Research Statement:
Project: Gene expression changes in response to Masp1 loss of function (Faculty mentor: Heather Ray, ISU) Overview: This research project is examining how the loss of function in Masp 1, a protein coding gene, impacts gene expression and how these changes are involved in craniofacial defects and developmental disorders. Background: Developmental disorders are inherited and involve mutations in an individual's genetic makeup. These mutations cause a gene to lose control and impact its function. This can lead to disrupted physical development and cognitive impairment. By studying the importance of Masp 1 during development and by confirming whether it has a role in causing 3MC syndrome (a disorder characterized by unusual facial features and a variety of problems affecting other tissues and organs of the body), can spur attention towards generating prevention treatments. Within Idaho, statistics show that more than 22,400 babies are born yearly. Of these babies, it is found about 1 in 5 of infant deaths is due to birth defects. Those living with their defects, while alive, may have a lower quality of life due to physical ailments and or impaired cognitive abilities.
Research Impact:
The team hopes to find evidence confirming how mutations in the MASP 1 gene could lead to a developmental disorder through its impact on genes important for structuring the craniofacial bones. By understanding how development is disrupted by genetic mutation, they can eventually figure out ways to prevent these disorders from occurring. “With this in mind, research investigating the causes of birth defects and how to prevent them is important in bettering the lives of Idahoans.”