Adeena
Rahman
Sponsor: Janine Lasalle, Ph.D. MED: Medical Microbiology&imm Neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorder (ASD), result from a complex interplay of genetic and environmental factors. RTT is caused by mutations in the Methyl CpG binding protein 2 gene (MECP2) encoding MeCP2 protein. In contrast, recent studies have linked ASD to altered placental methylation at chromosome 22q13.33, where the neuronal hypoxia inducible, placenta associated (NHIP) gene resides which encodes NHIP protein. NHIP is expressed in the brain, responds to oxidative stress, and appears to influence the expression of ASD-associated genes. Altered expression or methylation of NHIP has been associated with an increased risk of ASD. Although both MeCP2 and NHIP are involved in neurodevelopmental disorders, their functional relationship is not well understood. We hypothesize that NHIP influences the activity of MeCP2 in the human brain through an interaction that may contribute to the development of neurodevelopmental disorders. To test this, we performed immunofluorescent staining using antibodies against MeCP2 and NHIP on RTT patient post-mortem cortical samples and neurotypical controls. Our findings provide evidence of a regulatory interaction between NHIP and MeCP2. Understanding this relationship may offer novel insights into the molecular mechanisms underlying RTT and ASD, contributing to diagnostic or therapeutic strategies. Assessing Changes in Gene Regulation Associated with Chromosome 15q13.3 Deletion
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Adeena Rahman
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Structural variants (SVs) are large genomic alterations that include deletions, duplications, inversions, and translocations. These can impact gene expression and cellular function by reshaping chromatin organization such as topologically associating domains (TADs). The chromosome 15q13.3 locus represents a hotspot for structural polymorphism and has been associated with multiple neurodevelopmental conditions, including epilepsy and schizophrenia. Leveraging genome assemblies from the Human Pangenome Reference Consortium (HPRC), we identified in approximately 14% of the dataset a novel ~470-kbp deletion segregating in human populations. RNA-sequencing analysis of lymphoblastoid cell lines revealed differential expression of multiple genes associated with the deletion, including TJP1, NRN1, and RN7SL1. To better understand how three-dimensional genome organization between haplotypes with and without the deletion might dictate these expression differences, we are currently generating long-read chromosome conformation capture (CiFi) data. These analyses aim to determine whether deletion-associated TAD disruptions lead to altered cis-regulatory interactions and misregulation of genes flanking the affected region. Altogether, this provides insight into how SVs alter chromatin architecture and transcriptional outcomes at chromosome 15q13.3. More broadly, this work understands how genomic rearrangements are linked to disease-associated molecular phenotypes. The New York Times Representation of Syrian Women from 1942-1949 Sara Rahman
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UC Davis / MED: Biochem & Molecular Med / 2026
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Adeena Rahman