Introduction

Caitlin E -

Hello everyone! My name is Caitlin Estrada, and I am a senior at BASIS Phoenix. My senior project is focused on investigating the genetic causes of Neurodevelopmental diseases using data analysis. As someone who has always been interested in how the human mind works, I am extremely excited for this opportunity to conduct research on the brain, and by extension, the entire body.  

Neurodevelopmental disorders (NDDs) are complex conditions characterized by differences or impairments in cognition, sensory experience, motor skills, behavior, and/or communication as a result of abnormal brain development. These disorders include Autism Spectrum Disorders, Attention-Deficit/Hyperactivity Disorders, Intellectual Disabilities, and Cerebral Palsy. Over the past years, the reported prevalence of neurodevelopmental disorders appears to be increasing. Although environmental factors, such as exposure to toxins, contribute to the pathology and progression of NDDs, an individual’s genotype can play an equally significant, or even greater role in the development of these disorders. 

Although extensive research has been conducted on neurodevelopmental diseases in the past years, scientists still strive to explore the exact elements that facilitate atypical neurodevelopment remain. For instance, when researching genetic factors behind NDDs, genetic sequencing technologies are used in conjunction with statistical analysis models to create a more comprehensive image of how certain genotypes correlate with NDDs. For instance, Pacific Bioscience’s HiFi sequencing technology, has boasted extreme accuracy in genome sequencing. With long reads and near-perfect accuracy, HiFi technology allows for more accurate and targeted sequencing, creating a better understanding of the genotypes behind certain conditions. Pairing sequencing technology with statistical analysis tools such as Statsmodels, a python-driven statistics software, can create more accurate genetic diagnoses of various disorders. 

I will be completing my work at the University of Arizona College of Medicine in Phoenix. I hope to gain a better understanding of neuroscience and biostatistics as a result of this project, and I am looking forward to sharing my results in the spring! 

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