Importance Of Genetics In Medicine

Improved Essays
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
…show more content…
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

Related Documents

  • Improved Essays

    Nt1310 Unit 1 Assignment

    • 449 Words
    • 2 Pages

    My choice for a genetic disorder is Spinal Muscular Atrophy also known as SMA. SMA is an inherited or genetic disorder that affects spinal motor neurons. Without these properly functioning neurons, patients have increased muscle weakness. In some severe cases patients will lose the ability to breath or swallow on their own. According to the National Human Genome Research Center, 1 in 6,000 to 1 in 10,000 people are affected by SMA.…

    • 449 Words
    • 2 Pages
    Improved Essays
  • Great Essays

    Fruit Fly Lab Report

    • 1571 Words
    • 7 Pages

    Name: Alexis Vick Drawer/Group #: 12 PS ID #: 1059363 Three digit mutant code: 458 BIOL 3311 Fall 2014 Lab Section: 20091/Tu4 Date: 09/29/14 TA Instructor Name: Laura Montier Drosophila Melanogaster: Decapentaplegic gene The fruit fly, Drosophila Melanogaster, has been used for years as a model for genetics.…

    • 1571 Words
    • 7 Pages
    Great Essays
  • Improved Essays

    Pt1420 Exercise 1

    • 742 Words
    • 3 Pages

    1. What is the genome? The genome is an organism’s complete set of DNA and vary widely in size. 2.…

    • 742 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Classical genetics refers to the method of genetics that leads the appearance of molecular genetics, which give us the information of the structure and the function of the genes at a molecular level. Classical genetics, keeps the same basis for all other topics in genetics, firstly the method where genetic traits are transmitted in plants and animals. These traits are classified as dominant recessive intermediate. Also the traits are either sex-linked or autosomal Classical genetics began with Austrian monk Gregor Mendel, who traced the inheritance patterns of certain traits in pea plants and showed they could be described mathematically Mendel’s laws. Mendel published it in 1865, Experiments on Plant Hybridization, this did not get noticed…

    • 120 Words
    • 1 Pages
    Improved Essays
  • Improved Essays

    In Inheritance: How Our Genes Change Our Lives and Our Lives Change Our Genes, author Sharon Moalem uses a concoction of historical happenings, real-life experiences, and patient case history to portray two main biological concepts: deviations from Mendelian genetics and epigenetics (Moalem, 2014). In regards to the AP Biology curriculum, these two concepts relate, respectively, to the third and fourth big ideas that make-up the course’s framework. The third big idea in the AP Biology curriculum declares that, “Living systems store, retrieve, transmit, and respond to information essential to life processes” (The College Board, 2015). The continual survival and growth in all living organisms hinge on the genetic information they inherit from…

    • 1064 Words
    • 5 Pages
    Improved Essays
  • Improved Essays

    CYSTIC FIBROSIS. Many humans around the world are carriers of a genetic component that can cause their dependents to be born with a genetic disease that can affect their lives forever. Some of these conditions are currently under investigation by facilities which specialise in genetics testing. Cystic Fibrosis is one of many genetic disorders that can affect devilry the patient and their everyday life.…

    • 836 Words
    • 4 Pages
    Improved Essays
  • Great Essays

    Testing The first step to finding cystic fibrosis in a newborn is through a mandatory newborn screening to help find babies with certain health conditions and then after you see symptoms, to do a sweat test. In that test, doctors use a stimulation to get the sweat glands to make sweat and finally, they see the chloride levels in the sweat to diagnose cystic fibrosis. Lifestyle People with cystic fibrosis are able to do normal things like go to work and school. They but also might have anxiety, depression, fear, and stress.…

    • 542 Words
    • 3 Pages
    Great Essays
  • Decent Essays

    Neurofibromatosis The genetic disorder I chose is called Neurofibromatosis. There are three types of Neurofibromatosis: Type 1 (von Recklinghaus disease, peripheral NF, Recklinghausen neurofibromatosis), Type 2 (bilateral acoustic NF, central NF or vestibular NF), and schwannomatosis. Schwannomatosis used to be considered a variation of neurofibromatosis type 2 but is now recognized as different from neurofibromatosis type 2.…

    • 695 Words
    • 3 Pages
    Decent Essays
  • Improved Essays

    Duchenne Muscular Dystrophy In this world, there are many diseases that are being caused by the X chromosomes or the Y chromosomes. Some of the diseases could be passed down from generation onto the next because it is gene and some of the diseases can be treated and which later on causes for it to make it worse. The diseases that would always be there would be Down Syndrome, Huntington’s Disease, Hemophobia, and many more.…

    • 824 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Survival of the Sickest by Dr. Sharon Moalem is a novel that investigates genetic disorders/ diseases and how they might have once facilitated our survival. This particular novel highlights a few disorders and diseases and delves into their history of how they might have benefitted the human race at some point. After all, Moalem comments, “It’s a book about life- yours, ours, and that of every little living thing under the sun” (ix). A common theme throughout the book is that biology will select for the disease that will kill you after several decades rather than allowing a disease that will kill you much sooner.…

    • 774 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    The most common, deadly genetic disorder in the United States is cystic fibrosis (CF), which causes the lungs to be clogged up by a thick, sticky mucus. This may also lead to infections and blockage of the pancreas (National Human Genome Research Institute). The Cystic Fibrosis Transmembrane Regulator (CFTR) gene causes this genetic disorder and was discovered in 1989. Roughly 30,000 people are affected by this genetic disorder in the U.S. and while there is a lot of promising research, a cure is yet to be discovered (National Human Genome Research Institute).…

    • 701 Words
    • 3 Pages
    Improved Essays
  • Superior Essays

    In the United States alone, one in twenty-six people will be diagnosed with epilepsy in their lifetime. This means that around 150,000 people find out each year they are afflicted with this disorder. Epilepsy is a neurological disorder caused by malfunctioning nerve cells within the brain and nervous system. Juvenile myoclonic epilepsy (JME) is a variation of this disorder, appearing mainly in children ages 12 to 18. This disorder is caused when the ion channels in the nerves cells that regulate cell communication are not produced in the correct amount.…

    • 1556 Words
    • 7 Pages
    Superior Essays
  • Superior Essays

    Autism spectrum disorder (ASD) is a developmental disorder that affects the brain’s development of social and communication skills. A person with autism may have repetitive behaviors, social challenges, and communication difficulties which last throughout a person’s lifetime. About one percent of the world’s population is living with autism, and about 3.5 million Americans are living with an ASD. There is no known single cause for autism, but most accept that autism is caused by abnormalities in brain structure or function. Brain scans show differences in the brain structure when compared to a neurotypical brain (Autism-Society).…

    • 1752 Words
    • 8 Pages
    Superior Essays
  • Improved Essays

    DNA sequencing and information is useful in many fields of science and technology. DNA ideally can be used to identify specific organisms because most organisms don’t possess the same DNA.The use of DNA to try to identify specific organisms is called DNA fingerprinting. DNA fingerprinting involves creating a DNA fingerprint using gel electrophoresis, which is the process by which DNA is broken down into fragments and then sorted by positive electrodes (after negative electrodes repel them from the other side. And as this happens the DNA strands for lines of different lengths resulting in an identifiable pattern. There are wide array of uses for DNA fingerprinting.…

    • 783 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Personalized Medicine In recent years, the growth and changes in medicine has been exponential than linear. With the innovations of new cutting edge technologies, medicine is not only changing through technological perspective but through human perspective as well. While millions of lives have been saved with the traditional one –size-fits-all blockbuster medicine, some drawbacks are still preventing an effective treatment for each individual. An individual’s response to any medications are influenced by many socio-biological factors such as age, weight, medical history, daily lifestyle but it is also affected by their genetic makeup.…

    • 1066 Words
    • 5 Pages
    Improved Essays