Since the summer after my senior year of high school I have been an undergraduate researcher in Dr. Michael Bamshad's laboratory in the Department of Pediatrics in the Division of Genomic Medicine. Of the course of my four years as a part of this dynamic and innovative team I have contributed to a variety of investigations into the role of genetics in various congenital syndromes and fetal development. The Bamshad lab is focused on gaining a greater understanding of how evolution has led to genetic variation within the human race and how these variations influence physical features and disease susceptibility. As a researcher in this laboratory, my investigations have focused on the congenital contraction syndromes Miller Syndome, Distal Arthrogryposis Type 5, CLIFAHDD Syndrome, among others. My work focuses on sequencing family trios to determine which pathogenic lesions in these individual's genomic sequences led to their phenotype and determining the heritability patterns of said lesions. In addition to this, I have conducted RNA investigations to decipher the downstream effects on these variations on gene and protein expression and how these changes in expression lead to each phenotype. My experiences in the Bamshad lab have helped me to become a more developed scientist and problem solver. Genetic investigations often end up similar to a jigsaw puzzle; each new piece of data needs to be analyzed both individually and in the context of the larger picture in order to get an accurate understanding of the mechanisms at play. Conducting my own research has been an enlightening experience has has helped me to discover new interests to pursue in the future as well as gain a knowledge of the field that will help me become a more well rounded physician. As a result of my time in the Bamshad Lab, I have been able to present my research at a multitude of national research conferences as well as publish my work in the American Journal of Human Genetics. You can read more about my work in the samples below |
Sequencing DHODH in Person's with Miller Syndrome
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De Novo NALCN Mutations and CLIFAHDD Syndrome
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