Genomic Data Science

I started exploring genetics when I competed for Heredity as part of Winston Churchill’s Science Olympiad Team. Since then I have learns lots more about Genetics, genomics and Multi-omics.

I started with finding out what genes are to doing Genomic Data Science from Johns Hopkins and then doing a formal Personal Genomics Course from Stanford School of Medicine.

Here is a peek into some of my work in this area:

1) Genetic Basis for Mandibular Proganthism (Class III skeletal malocclusion)

2) Effects of Gravity on Skin health and wound healing

My mission is to create genomic data sets that represent all groups /races and ethnicities so that the innovations in the field of personalized medicine based on multiomics would benefit all.

Genetic Basis for Mandibular Proganthism

(Class III skeletal malocclusion)

Title: Analyzing specific candidate genes implicated in the development of Class III skeletal malocclusion

Accepted for poster session of ASHG (American Society of 2024 Human Genetics) Conference

Abstract:

Class III skeletal malocclusion, a complex craniofacial disorder characterized by an anterior crossbite due to mandibular prognathism or maxillary retrognathism, poses significant challenges in orthodontics and craniofacial genetics. With a suspected genetic component underlying its etiology, it’s important to be able to understand the specific candidate genes and their functional significance in Class III malocclusion. This research aims to unravel the genetic basis of Class III skeletal malocclusion by identifying key candidate genes and assessing their potential roles in the condition. Class III skeletal malocclusion affects a large proportion of the population, leading to functional impairments, insecurities, and psychological consequences for affected individuals. Yet, despite its prevalence and impact, the precise genetic mechanisms driving this malocclusion remain largely unknown. Identifying specific candidate genes associated with Class III malocclusion and their functional roles could offer vital insights into the developmental pathways underlying this condition, thus opening new avenues for personalized treatment strategies and improved patient care. We will review expression studies to determine the spatial and temporal expression patterns of the identified candidate genes during critical developmental stages. Additionally, regulatory network analysis will provide insights into potential gene-gene interactions and shared pathways that may contribute to Class III malocclusion. Through a comprehensive analysis of candidate genes, particularly within the fibroblast growth factor (FGF) family, our study identified a remarkable association between the FGF family genes and mandibular prognathism. The GO Enrichment Analysis provided statistical support for this association, revealing a strong significance with a remarkably low p-value. The findings from this study may pave the way for advancements in craniofacial genetics, precision orthodontics, and personalized treatment modalities, ultimately benefiting individuals with Class III malocclusion and improving their quality of life. By understanding the specific genetic factors contributing to this condition, our research aims to provide valuable insights that can advance the field of orthodontics and craniofacial genetics, leading to more effective and personalized treatment strategies for individuals with Class III skeletal malocclusion.

Effects of Gravity on Skin health and wound healing

Title: Examining Impacts of Spaceflight-Induced Cell Cycle Dysregulation on Skin Health and Wound Healing in Mice with Metabolic Profiling of Igf2

Accepted for poster presentation at 2024 ASGSR (American Society of Gravitational and Space Research) Conference

Abstract:

From the moment when humans made their first venture into space, it has been noticed that spaceflight has many impacts on the human body, particularly related to skin health and wound healing. To identify roots to this problem, we investigated the OSD-254 “Transcriptional analysis of dorsal skin from mice flown on the RR-7 mission” dataset where we identified down-regulation of genes involved in cell cycle regulation (Cdk1, Ccnb1, Ccnb2 [p-value < 0.05, log2FC < -1.5]) in female C57BL/6J mus musculus. This trend is also reflected in homo sapiens, where according to literature, microgravity induces dysregulation in cell cycle genes in human cells (Verma et al., 2015). Additionally, cell cycle genes have been established to be keystone in cellular proliferation, where Cdk1, Ccnb1, and Ccnb2 have been found to be upregulated in various cancers. When upregulated, these genes drive rapid cell division, contributing to tumor growth and progression. These genes are well connected to cellular proliferation and development, specifically in their roles of regulating the G2/M transition phase of the cell cycle. In our investigation, we also found Igf2, which was upregulated in space, to be involved in many cell growth and proliferative processes along with these three regulatory genes. Through further analysis, we found their direct cellular interactions within the MAPK pathway. We then identified Igf2’s role in enhancing skin health (skin thickness/differentiated cell concentration) and wound healing (Ward et al., 2003) as well its role in metabolic pathways. This led us to focus on identifying unique metabolic profiles characterized by Igf2 expression in microgravity conditions. By designing an experiment utilizing immunofluorescence (IF), AO/PI flow cytometry assays, histological assessments, metabolomic assays, and numerous other potential procedures to examine impacts of cell cycle gene dysregulation and Igf2 expression on mice skin health/metabolomic characteristics, we aim to understand underlying mechanisms of skin health and wound healing in microgravity. This knowledge will open doors to tailor solutions for microgravity impacts on skin health whilst identifying potential metabolic side effects.

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