Genetics: Down Syndrome Paper Example

Introduction

The Trisomy 21, commonly known as the Down Syndrome is a genetic disorder triggered by the presence of an extra third chromosome 21 (Popadin, Peischl, Garieri, Sailani, Letourneau, Santoni & Excoffier, 2018). Even though such a genetic abnormality is profoundly seen in one of 700 births recorded, approximately 20% of the unborn children with Down Syndrome make to full term ("Universite de Geneve," 2018). The big question is how do these children subsist the first trimester of pregnancy despite this grave genetic condition. In a bid to scientifically justify this, researchers from Universities of Geneva and Lausanne have discovered that children born having the Down Syndrome got a superb genome and in some ways better than the typical genome of people with no genetic disorders. It is therefore conceivable that this genome counterbalances the infirmities caused by the additional chromosome, aiding the fetus to live consequentially the child's growth and development.

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Discussion of how this discovery relates to our current understanding of the concept of how it advances our knowledge of the field of Genetics

The study by researchers from Universities of Geneva and Lausanne states that 20% of Down Syndrome children are born alive and surprisingly can live up to the age of 65. The backup explanation is that persons born with Down Syndrome, have a high-quality genome with the capacity to compensate for the outcome of the additional chromosome 21. In the article "Universite de Geneve "(2018) the genome comprises of all the genetic material that makes up a person. According to the lead-researcher, Stylianos Antonarakis, the genome is what limits what becomes of an individual, making him or her grow up and age, with or with no illness. Some genomes are of higher eminence than others, as they are less susceptible to diseases like cancer. Therefore, founding the research hypothetically on the quality of the genome, geneticists verified the gene variation and expression in 380 persons with Down Syndrome against people without the gene disorder.

Identify any gaps in the Research

The research was conducted in three steps; observation of the presence of rare variants, gene regulation of genes on chromosome 21 and gene expression variations for the chromosomes of the whole genome. In the primary stage of the research, detailed studying of the existence of rare variants for example, possibly detrimental genetic mutations in individuals with Down Syndrome. A chromosome can have rare variants in its two replicas. In a Down Syndrome patient, though, the sporadic mutations that are identical for all the three copies of the chromosome and constrained in number, hence reducing the detrimental variants ("Universite de Geneve," 2018).

The study on gene regulation on chromosome 21, it's notable that every gene either regulates its expression positively or negatively. Persons with Down Syndrome got three chromosomes 21; consequently, these genes become overexpressed. But the discovery in this study showed that down syndrome patients have more regulators that lessen the countenance of the 21 genes. The deduction here is that the genome of individuals with Down Syndrome props towards the normal to optimum functioning (Popadin et al., 2018).

The drawback in this research work is that it bases the conclusions on random sample study and does not give room for exceptional cases given the different factors that may influence the gene mutation and its expressions. It is crucial that family history, lifestyle, biological and radiation keystone agents that could be present in the patients' environment ought to be fully exploited in the research to make it less bias.

A key Difference between the News Article and the original Research Study

According to (Popadin et al., 2018) the research investigation involved 388 genotyped samples and 16 fibroblast transcriptomes, which has been left out in the news article, for the item only states that geneticists studied 380 individuals. The edition process and summarizing of the journal left out and had some data altered. Some essential scientific terminologies have been left out for simplicity purposes for the article's audience.

Effect the Research findings on Nursing Practice

In the recent past, nurses have had to incorporate genetic and genomic facts in all aspects of the healthcare system translating to improved healthcare to the public. For the whole health care spectrum, common health risks and disorders employ therapies influenced by knowledge of genetics. The research conclusion was that for a child with the Down Syndrome to live till the full term of a pregnancy, his or her genome must be of higher quality to recompense for the incapacities resulting from the presence of the extra copy of chromosome 21 (Popadin et al., 2018). This discovery positively impacts nursing practice in that having an intimate understanding of genetic and genomic information aid in disease prevention and promotion of health which is an indispensable constituent of gene health care practices.

References

Popadin, K., Peischl, S., Garieri, M., Sailani, M. R., Letourneau, A., Santoni, F., ... & Excoffier, L. (2018). Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection. Genome research, 28(1), 1-10.

Universite de Geneve. (2018, January 19). The Down syndrome 'super genome'. ScienceDaily. Retrieved November 24, 2018 from www.sciencedaily.com/releases/2018/01/180119090148.htm