Importance Of Genetics In Medicine

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I was keenly aware of the importance of Genetics in health care early in my time studying Medicine and later have gained profound knowledge of it as well as Cell Biology and Molecular Biology through in-depth Biomedical studies. However, it is during my current study on the genetic disorder Neurofibromatosis type 1 (NF1) when my passion for the Laboratory Genetics and Genomics was lighted.

My passion for the Laboratory Genetics and Genomics was lighted while I am conducting current studies on the genetic disorder Neurofibromatosis type 1 (NF1). However, it has long been deeply rooted since I was keenly aware of the importance of Genetics in health care early in my time studying Medicine and have gained profound knowledge of it as well as Cell
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Bruce Korf, is to understand the genetic mechanisms involved in NF1 and to develop “mutation-guided” drug therapies. To date, I have made several significant accomplishments. First, I generated novel “humanized” NF1 genetically engineered mouse models carrying specific mutations recapitulating those of NF1 patients. The finding that different mutations in the NF1 gene contribute to the disease heterogeneity has been published in Disease Models & Mechanisms. Then, I identified compounds that are able to restore the normal NF1 gene function caused by nonsense mutations. Lastly, I generated the NF1 gene-interrupted induced pluripotent stem cells from fibroblasts of NF1 patients using the latest genetic reprogramming and genome editing approaches. These cells, which maintain normal karyotypes after the genetic manipulations, hold great promise in exploring NF1 pathogenesis and in preclinical drug screening. I have received the “Young Investigator Award” from the Children’s Tumor Foundation due to my …show more content…
For example, I performed gene expression profiling in the developing thalamus of Gbx2-deficient transgenic mice using DNA microarray and elucidated the genetic cascade directing the embryonic thalamus development. I have published a number of papers in highly ranked peer-reviewed journals in this regard.

Before pursuing biomedical research, I attended a three-year professional program in Medicine and then worked as an internist to provide healthcare to patients. During that period, I passed the National Medical Licensing Examination (NMLE) for assistant physician certification. While the clinical experience was relatively brief, it profoundly influenced my decision in my future career, which is to reduce patient suffering by assisting healthcare professionals in making accurate diagnosis and in formulating effective

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