Trinucleotide repeat disorder Essays

  • Cracking Your Genetic Code: A Review of Genetic Testing

    1554 Words  | 4 Pages

    Cracking Your Genetic Code: A Review of Genetic Testing In Gattaca, the plot focuses on the ethics, the risks, and the emotional impact of genetic testing in the nearby future. The film was released in the 90s; yet in the present, the film does not give the impression of science fiction. Today, genetic testing is prevalent in many aspects of the scientific community. This paper will describe genetic testing, its purpose, diagnostic techniques that use genetic testing, relating Huntington’s disease

  • Myotonic Dystrophy Essay

    1627 Words  | 4 Pages

    Myotonic dystrophy, type 1, is a genetic disorder which is linked to chromosome number 19 in humans. The dystrophia myotonica protein kinase gene is located on the q arm of the chromosome at the locus of 13.32. It is an autosomal dominant disorder, which means that the individuals that are affected by this disorder and contain at least one dominant allele for the dystrophia myotonica protein kinase gene. The disorder is caused by a series of repeats of a trinucleotide region that is expanded beyond the

  • Genetic Testing and The Diagnosis of Genetic Diseases

    1085 Words  | 3 Pages

    DNA sequencing in adults and preimplantation genetic diagnosis (PDG) on embryos. These methods of genetic testing are effective means of determining the likelihood of developing diseases such as Huntington’s disease, a disease resulting from trinucleotide repeat on chromosome 4p16.3 that causes uncontrollable muscle movement and decrease in cognitive function. However, they only determine probability, which isn’t an entirely reliable means of knowing whether or not symptoms will arise. It is patients’

  • Understanding Huntington's Disease

    2070 Words  | 5 Pages

    Understanding Huntington's Disease Huntington's disease is an inherited neurodegenerative disorder. It is passed on to children from one or both parents (though two parents with Huntington's is extraordinarily rare) in an autosomal dominant manner. This is different from autosomal recessive disorder, which requires two altered genes (one from each parent) to inherit the disorder. So if one parent has it, and passes the gene on to a child, that child will develop Huntington's disease if they live

  • The Genetic Factors of Learning Disabilities

    3047 Words  | 7 Pages

    The National Institute of Neurologic Disorders defines learning disorders as a; condition that either prevents or significantly hinders somebody from learning basic skills or information at the same rate as most people of the same age. It is important to note that this does not mean that the individual has less intelligence; it means that their brain or body is wired in a way that hinders or prevents development of a certain tasks. Many people often confuse learning disabilities with mental retardation

  • The Genetics of Autism

    1616 Words  | 4 Pages

    condition, or "disorder" that affects many people. Autism strikes at will, when and where it wants. Unlike Downs Syndrome or other birth "defects," Autism leave no marks on those that it strikes. In fact, Autism takes pride in the ability to infiltrate a child's life, while leaving him or her strikingly handsome. Many people may not even know that Autism is there. They blame the child for what it cause him or her to do. This is Autism and it do as it please. Autism spectrum disorder (ASD) is a general

  • Huntington Disease Essay

    1071 Words  | 3 Pages

    MUTANT HUNTINGTIN PROTEIN AGGREGATION AND PROTEASOMAL DISFUNCTION AN INSILICO STUDY 1. INTRODUCTION 1.1 Huntingtons Disease Huntington’s disease (HD) is a progressive autosomal dominant neurodegenerative genetic disorder. HD was originally named Huntington’s chorea after Dr.George Huntington, an American physician who first gave a detailed note on the symptoms and course of the disease in 1872.Recently the name has been changed to Huntington’s disease to emphasize the fact that chorea is not the

  • Fulcrum Therapeutics Essay

    855 Words  | 2 Pages

    muscular dystrophy (FSHD), and Fragile X syndrome (FXS). FSHD for example, is a progressive myopathic disease that affects humans of all ages caused by disrupted genetic and epigenetic regulation of a macrosatellite repeat (Himeda, Jones, & Jones, 2015). It is slowly progressive muscle disorder that affects 1 in every 20,000 individuals. Fulcrum is developing a small molecule that stabilizes the disease process through the restoration of the repressive DUX4 gene regulation as well as advising patient on