By: Katherine H.
Year: 2023
School: Woodbridge High
Grade: 11
Science Teacher: Jennifer Blackie
Understanding the genetic underpinnings of autism spectrum disorder (ASD) has long been a challenging yet critical area of research. ASD, a complex neurodevelopmental disorder, manifests itself in various ways, including intellectual disabilities, social and communication deficits, and delayed motor skills development. However, diagnosing ASD, particularly in younger children, remains elusive due to its spectrum nature and the absence of identifiable biomarkers.
Katherine’s project centered on investigating the role of genetics in ASD. Armed with the knowledge that ASD is influenced by a complex interplay of genetic and environmental factors, she delved into the Gene Expression Omnibus (GEO) database, where she meticulously analyzed data sets to discern patterns in gene expression between ASD individuals and neurotypical controls.
Katherine segregated the data into ASD and control groups and employed statistical techniques, notably the t-test, to identify genes that exhibited significant differential expression. Through rigorous analysis, Katherine pinpointed the top 250 genes with notable discrepancies in expression levels between the two groups.
Leveraging the STRING database, Katherine constructed gene interaction networks to unravel the intricate web of molecular relationships. This approach not only highlighted individual genes but also illuminated broader biological pathways implicated in ASD pathogenesis.
Among the myriad of genes uncovered, two stood out prominently: ARF6 (ADP Ribosylation Factor 6) and PI3K (Phosphoinositide 3-kinase). These genes, Katherine discovered, were not only differentially expressed but also actively participated in three crucial pathways: RAS Signaling, Phospholipase D Signaling, and Salmonella Infection. Their involvement in fundamental cellular functions such as cell survival, proliferation, and cytokinesis underscored their potential significance in ASD pathology.
Furthermore, Katherine’s findings shed light on the role of T-cells, a type of white blood cell, in ASD. Through meticulous analysis, she uncovered a strong correlation between T-cells and the three pathways associated with ASD, particularly in processes involving inflammation and immune dysregulation.
Katherine’s project not only validated her hypothesis but also offered compelling evidence of the intricate genetic landscape underlying ASD. By elucidating the role of specific genes and pathways, her work paves the way for targeted interventions aimed at mitigating the symptoms and improving the quality of life for individuals with ASD.
Looking ahead, Katherine’s findings hold immense promise for the future of ASD research. Expanding on her discoveries could lead to the development of innovative immunotherapies designed to modulate gene expression and protect against immune-related dysfunctions. Moreover, further exploration of T-cell involvement in ASD could unravel new therapeutic targets and deepen our understanding of the disorder’s complex etiology.