5 Jan 2023

71

Genetic Research on Genetic Disorders

Format: APA

Academic level: College

Paper type: Annotated Bibliography

Words: 1501

Pages: 4

Downloads: 0

Annotated Bibliography 

Alwan, A. D., Modell, B., Bittles, A. H., Czeilel, A., & Hamamy, H. (2017). 

Community control of genetic and congenital disorders

. World Health Organisation. Office for the Eastern Mediterranean. 

The researchers at the World Health Organization use data obtained from the demography in Eastern Mediterranean survey to find answers on their research questions on strategies for reducing the genetic disorders and congenital abnormalities in the region. The researchers identify various encouraging initiatives employed to reduce genetic disorders in the region. However, the researchers conclude that the control of genetic disorders and congenital abnormalities is not effectively addressed. 

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Most of the nations in the Eastern Mediterranean Region are unable to control the serious misconceptions dedicated to genetic disorders. In return, the researchers under the World Health Organization analyze the epidemiological situation presenting statistical data that is useful for the organization to define the best approaches that are necessary for the detection, treatment, and prevention of genetic disorders in the Eastern Mediterranean Region. 

Baird, P. A., Anderson, T. W., Newcombe, H. B., & Lowry, R. B. (2010). Genetic disorders in children and young adults: a population study. 

American journal of human genetics

42 (5), 677.’ 

Authors and researchers of the American journal of human genetics present significant data relating to the genetic disorders in children and young adults through a population study. The researchers support their hypotheses through findings related to the detection, treatment, and prevention of genetic disorders. They suggest that child mortality is gradually reducing following the strategies that aim from shifting childcare against genetic disorders from survival care to treatment and prevention of future genetic disorders among children and young adults. The researchers estimate the global burden of genetic and congenital disorders hence suggesting more approaches that aim at detection, treatment, and prevention of genetic disorders. 

Chen, H. F., Chen, S. U., Ma, G. C., Hsieh, S. T., Tsai, H. D., Yang, Y. S., & Chen, M. (2018). Preimplantation genetic diagnosis and screening: current status and future challenges. 

Journal of the Formosan Medical Association

117 (2), 94-100. 

The author employs information from different researchers to present Preimplantation genetic diagnosis (PGD), which is a clinical feasible technology necessary for preventing the transmission of inherited genetic disorders. Inherited genetic disorders are among the categories of genetic disorders. The author, through the Journal of the Formosan Medical Association, presents this clinical technology as one of the preventive strategy supporting the aim of healthcare organizations to detect, treat and prevent genetic disorders. 

Supporting the idea, the author supports the technology since it detects genetic disorders in children at an early stage hence providing an early treatment approach. The author presents accurate diagnosis as the best characteristic of the identified clinically feasible technology and effective for preventing inherited genetic disorders. 

Cohen, D., Pichard, N., Tordjman, S., Baumann, C., Burglen, L., Excoffier, E., ... & Héron, D. (2005). Specific genetic disorders and autism: clinical contribution towards their identification. 

Journal of autism and developmental disorders

35 (1), 103-116. 

Researchers and authors of the Journal of autism and developmental disorders use data from different sources to present different genetic disorders and autism that contribute towards clinical detection of genetic disorders. The authors present autism as a heterogeneous disorder that can be used to reveal a specific genetic disorder. The author presents different genetic disorders associated with autism. In return, the author presents the detection of autism as an approach to detecting genetic disorders. In return, the author suggests an economic and consensual diagnostic strategy that could be effective for detecting genetic disorders. Therefore, the author asserts that autism can be employed to distinguish patients through the diagnosis of clinical signs hence help in the detection of genetic disorders. 

Degenhardt, F. (2019). Genetic testing for psychiatric disorders-where is we heading?  European Neuropsychopharmacology 29 , S763. 

The Author uses data and resources from different researchers to find an answer to the question, where are we heading? The question focuses on genetic testing for psychiatric disorders and the context answers the question considering the clinical applicability of the genetic disorder detecting approaches employed. The author presents different challenges affecting medical scientists in the attempts to identify different strategies for detection, treatment, and prevention of genetic disorders. The environment is considered one of the factors that exert one of the challenges on the measures employed. The author presents different types of biomarkers that would be employed to predict the likelihood of successful treatment of the identified treatment strategy. 

Giri, V. N., Knudsen, K. E., Kelly, W. K., Abida, W., Andriole, G. L., Bangma, C. H., ... & Catalona, W. J. (2018). Role of genetic testing for inherited prostate cancer risk: Philadelphia Prostate Cancer Consensus Conference 2017. 

Journal of Clinical Oncology

36 (4), 414. 

The authors and researchers through the journal of Clinical Oncology use data to support their hypotheses on the role of genetic testing for inherited genetic disorders. The data used present prostate cancer as an inherited genetic disorder. The researchers obtain the data from the Philadelphia Prostate Cancer Consensus Conference and support their hypotheses through asserting that genetic testing plays a substantial role in detecting inherited genetic disorders. The guidelines support genetic testing of prostate cancer and induce new techniques that are employed in detecting genetic disorders. The data used is obtained from patients and the case address genetic counseling as one of the approaches to prevention of genetic disorders. 

Hamosh, A., Scott, A. F., Amberger, J. S., Bocchini, C. A., & McKusick, V. A. (2005). Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. 

Nucleic acids research

33 (suppl_1), D514-D517. 

Researchers and authors formulate different research questions and hypotheses based on nucleic acids research. The data obtained support the research based on human genes and genetic disorders that is relevant for establishing various approaches necessary for detection, treatment, and prevention of genetic disorders. The timely knowledgebase on human genes supports research on human genetics research on the causes of genetic disorders. Researchers record genetic database that is effective for determining different strategies that will be significant prevention of genetic disorders upon definition of different causes. In collaboration with the national center for Biotechnology Information, the study presents a rich database facilitating detection, treatment, and prevention of genetic diseases. 

Milunsky, A., & Milunsky, J. M. (2015).  Genetic disorders and the fetus: diagnosis, prevention, and treatment . John Wiley & Sons. 

Authors collaborate with researchers to define genetic disorders affecting children through different stages of growth. The author identifies different approaches for the diagnosis of genetic disorders especially affecting the fetus and newborn children. Through the aid of different researchers, the author presents different detection approaches through diagnosis. Furthermore, the context defines different genetic disorders prevention and treatment strategies. The context presents strategies that are effective for effective diagnosis, prevention, and treatment of fetal genetic disorders. The publication builds its context on the foundation f preconception and prenatal genetic counseling and prenatal diagnosis hence providing genetic testing approaches necessary for detection of genetic disorders. 

Palomo-Ríos, E., Quesada, M. A., Matas, A. J., Pliego-Alfaro, F., & Mercado, J. A. (2018). The History and Current Status of Genetic Transformation in Berry Crops.

The Genomes of Rosaceous Berries and Their Wild Relatives 

(pp. 139-160). Springer, Cham. 

The authors collaborate with different researchers and use data on genetic plants. The context defines different causes of genetic disorders including research on berry crops among the genetic plants. The genetic research based ion the transformation of various tree plants consumed by individuals have been associated with the cause of genetic disorders. In addition, the author asserts that genetic plants need to be considered by producing plants from gene-edited cells. This approach is among the strategies for detection, treatment, and prevention of genetic disorders in individuals. The author supports the regeneration of genetic plants and employs them for future utilization as treatment of medicine producers. 

Paterson, S. J., Brown, J. H., Gsödl, M. K., Johnson, M. H., & Karmiloff-Smith, A. (2009). Cognitive modularity and genetic disorders.  Science 286 (5448), 2355-2358. 

Authors and researchers present this context in support of their hypotheses on cognitive modularity and genetic disorders. The context presents different approaches employed for explaining the development of genetic disorders of genetic origin. Researchers challenge the employment of adult neuropsychological models for explaining genetic disorders. Authors use data from different laboratory experiments to present challenging factors. The approach is identified inadequate for various cases including genetic testing on children and young adults. The data from different experiments presents factors that are not suitable for different cases including the infant cases. The author suggests different cases that are suitable for making testing judgments on genetic related disorders. 

Welch, E. M., Barton, E. R., Zhuo, J., Tomizawa, Y., Friesen, W. J., Trifillis, P., ... & Wilde, R. G. (2007). PTC124 targets genetic disorders caused by nonsense mutations.  Nature 447 (7140), 87. 

Authors collaborate with different researchers to present this context that highlights different genetic disorders caused by genetic mutations. The author obtained data from different sources to present different causes of genetic disorders. Nonsense mutations are described as one of the causes of genetic disorders since it promotes premature translational termination of most inherited diseases. The context addresses the need for employing medication for suppressing premature termination. The PTC124 activity focuses on detection, treatment, and prevention of genetic disorders. The activity detects genetic disorders by identifying nonsense mutations as one of the causes of genetic disorders. The context presents the premature termination codons as a testing practice for evaluating the effectiveness of the identified drugs for genetic disorders treatment. 

Young, A. L., Butow, P. N., Tucker, K. M., Wakefield, C. E., Healey, E., & Williams, R. (2019). Challenges and strategies proposed by genetic health professionals to assist with family communication. 

European Journal of Human Genetics

, 1. 

Authors and researchers present data through the European Journal of Human Genetics concerning the strategies employed by the genetic health professionals to create awareness on the genetic disorders’ detection, treatment, and prevention measures introduced in the healthcare facilities. The context presents the ethical challenges affecting the genetic health professionals in the process of preventing the spread of inherited genetic disorders. The author presents different efforts employed by different health professionals on educating nurses and families hence presenting family communication as the main challenge between genetic health professionals and patients with genetic disorders. Additionally, the context presents different strategies proposed by genetic health professionals towards detection, treatment, and prevention of genetic diseases. 

References 

Alwan, A. D., Modell, B., Bittles, A. H., Czeilel, A., & Hamamy, H. (2017).  Community control of genetic and congenital disorders . World Health Organisation. Office for the Eastern Mediterranean. 

Baird, P. A., Anderson, T. W., Newcombe, H. B., & Lowry, R. B. (2010). Genetic disorders in children and young adults: a population study.  American journal of human genetics 42 (5), 677.’ 

Chen, H. F., Chen, S. U., Ma, G. C., Hsieh, S. T., Tsai, H. D., Yang, Y. S., & Chen, M. (2018). Preimplantation genetic diagnosis and screening: current status and future challenges.  Journal of the Formosan Medical Association 117 (2), 94-100. 

Cohen, D., Pichard, N., Tordjman, S., Baumann, C., Burglen, L., Excoffier, E., ... & Héron, D. (2005). Specific genetic disorders and autism: clinical contribution towards their identification.  Journal of autism and developmental disorders 35 (1), 103-116. 

Degenhardt, F. (2019). Genetic testing for psychiatric disorders-where is we heading?  European Neuropsychopharmacology 29 , S763. 

Giri, V. N., Knudsen, K. E., Kelly, W. K., Abida, W., Andriole, G. L., Bangma, C. H., ... & Catalona, W. J. (2018). Role of genetic testing for inherited prostate cancer risk: Philadelphia Prostate Cancer Consensus Conference 2017.  Journal of Clinical Oncology 36 (4), 414. 

Hamosh, A., Scott, A. F., Amberger, J. S., Bocchini, C. A., & McKusick, V. A. (2005). Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.  Nucleic acids research 33 (suppl_1), D514-D517. 

Milunsky, A., & Milunsky, J. M. (2015).  Genetic disorders and the fetus: diagnosis, prevention, and treatment . John Wiley & Sons. 

Palomo-Ríos, E., Quesada, M. A., Matas, A. J., Pliego-Alfaro, F., & Mercado, J. A. (2018). The History and Current Status of Genetic Transformation in Berry Crops. The Genomes of Rosaceous Berries and Their Wild Relatives  (pp. 139-160). Springer, Cham. 

Paterson, S. J., Brown, J. H., Gsödl, M. K., Johnson, M. H., & Karmiloff-Smith, A. (2009). Cognitive modularity and genetic disorders.  Science 286 (5448), 2355-2358. 

Welch, E. M., Barton, E. R., Zhuo, J., Tomizawa, Y., Friesen, W. J., Trifillis, P., ... & Wilde, R. G. (2007). PTC124 targets genetic disorders caused by nonsense mutations.  Nature 447 (7140), 87. 

Young, A. L., Butow, P. N., Tucker, K. M., Wakefield, C. E., Healey, E., & Williams, R. (2019). Challenges and strategies proposed by genetic health professionals to assist with family communication.  European Journal of Human Genetics , 1. 

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StudyBounty. (2023, September 15). Genetic Research on Genetic Disorders.
https://studybounty.com/167163-genetic-research-on-genetic-disorders-annotated-bibliography

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