Category: Genetics

Introduction

Genetics and genomics refer to two concepts that keenly study genes which are the basic operational unit of a living organism. Both genetics and genomics offer invaluable insights into the structure and function of the human body. The knowledge acquired from these two fields is vital in dictating the development of medicine and other health sciences. This essay is an analysis of these two fields and consists of six crucial sections. The first part differentiates genetics from genomics, enabling the distinction between the two disciplines. The second section offers invaluable insight into the role of nursing in the two fields. The third section highlights the ethical consideration in research into the two fields. The fourth dwells on the global utilization of genetics and genomics research while the fifth is an analysis of the influence of various factors on the utilization of genomics and genetics in healthcare. The final section is the conclusion that pieces together the knowledge from all the sections and offers direction. Genetics and genomics are amongst the fastest-growing fields that highlight the next crucial stage in healthcare development hence their value is undeniable.

Differences Between Genetics and Genomics

Genetics refers to study of genes and their functions in the inheritance of various traits amongst humans. This field analyzes how human beings pass down various characteristics to their offspring and the processes involved in the transfer (Marchant et al., 2020). This study also analyzes the impact of the genes transferred to various people. Genes are the primary unit studied in genetics and this term refers to basic units of heredity. Genes carry instructions that direct the manufacture of various proteins within the body. These instructions coordinate the manufacture of proteins such as hormones, enzymes, cells, and muscles.

These proteins are crucial in regulating various biological functions including sleep, growth and reproduction, breathing, digestion, and cognitive activity amongst others (Marchant et al., 2020). Genetics also identifies the diseases that can occur whenever an error is encountered in the ability of genes to direct the activity of the body. These diseases include cystic fibrosis, Huntington’s disease, and phenylketonuria and exhibit heredity (Marchant et al., 2020). This implies that the study of genetics can identify people at a high risk of developing these diseases and predict whether offspring can have them.

Genomics on the other hand is a recent terminology that describes the analysis of all of a human’s genes, referred to as the genome. It investigates the interaction of these genes with each other and the person’s environment. Genomics also studies complex diseases such as heart disease, asthma, diabetes, and cancer since these diseases are caused by genetic variation. Genomics aims to offer new possibilities for therapy, diagnostic procedures, and treatment for some complex diseases (Marchant et al., 2020). One of the most remarkable contributions of genomics is stem cell therapy that enables the replacement of the faultiest cells in the body using cells referred to as stem cells. These stem cells can develop into any human cell and are therefore cultured with this sole purpose. Once ripe, these cells are used to replace injured body organs and ensure healing.

The Role of Nursing in Genetics and Genomics

Nursing ensures the role of genetics and genomics through its involvement in research. The nursing profession encourages the involvement of professionals in research initiatives that enable the growth of this field (Beery et al., 2018). Additional research enables the discovery of new knowledge that is vital in ensuring disease is combated. Nursing also contributes to genomics through the popularization of the alternatives presented by these specialties. Nurses are some of the most exposed healthcare professionals, dealing with many patients. Their widespread interaction provides them with an opportunity to impact knowledge to millions of people whenever healthcare scenarios befitting the genomics alternatives are presented. Nursing also provides nurses with an opportunity to venture into a specialty of genetics called genetic nursing.

The professionals within this field are called genetic nurses. The involvement of specialists within this specific field ensures that the specialty is accorded the serious focus it deserves. Genetic nurses are availed with ample time to focus on this field and propagate its growth through research and experimentation. The implementation of the techniques with a genetic background ensures that treatments with this base are fast-tracked and approved.

Nursing ensures that the fields of genetics and genomics achieve practice and approval through the various nursing organizations. Global and national nursing associations have been at the forefront of ensuring that genetics and genomics are approved by the governments and global associations such as the WHO. This involves implementing their advisory mandate to the leaders in the healthcare fields and directing them to approve genetics and genomics (Hickey et al., 2018). These efforts have put adequate pressure on these organizations to offer sufficient funding to this research and also approve clinical trials of the various suggested genetics methods. The increased attention by governments and healthcare organizations has in turn caused an increase in the usage of these services in general and the growth of this field. Accessibility for more people has also been made possible with developing nations also embracing this revolution in healthcare.

Ethical Considerations with Research Involving Genetics and Genomics

When genetic and genomic research occurs, the data on the genomic sequence of individuals is required to be accessible to these participants. When this data is availed, it may reveal disturbing discoveries such as the possibility of developing cancer within the next few years. This is worrying for a patient who was previously unaware of the possibility and may cause anxiety in the patient and their families (Coughlin, 2020). The ethical issue of whether human beings want to be aware of what is happening in their bodies arises here. Additionally, the individual may be informed of the possibility of the occurrence of a chronic illness such as diabetes from genetic research. This disease may fail to occur and cause unnecessary worry and panic for the individual and their family, causing widespread mistrust in genetics and genomics.

Alternatively, the information about an individual may be discovered and withheld by the researchers. The aftermath of this is that a patient may develop the discovered condition and succumb to the disease partly due to late discovery and inadequate preparation. In this situation, the researcher is seen to have committed ethical injustice to the participant and harm public trust (Coughlin, 2020). In other scenarios, the researcher may be required to reveal the data collected on the genetic differences between the individuals participating. The variations may display some individuals negatively with a myriad of conditions likely to affect them in the future. In the unanticipated circumstances when employers or health insurance companies access this information, they are likely to discriminate against people.

Employers are likely to offer opportunities to individuals unlikely to develop a chronic disease that would be unprofitable due to sick leaves. Insurance companies are also likely to charge people with the likelihood of developing chronic diseases differently from others. This creates the issue of inequality and possible discrimination based on genetic predisposition.

How Genetics and Genomics Research is Conducted and Utilized Globally

Genetic and genomics research is conducted in willing individuals whenever the researchers have a specific hypothesis to test. The research requires the necessary approval from all the organizations involved including the government institutions involved. This research requires the involvement of high-level technology that enables the analysis of the data. Additionally, researchers must collect samples from their participants or patients, extract the genetic information, and carry out the tests required (Stark et al., 2019). Genetic research is conducted whenever researchers want to establish the impact of certain environmental factors on various human aspects. This research is also conducted whenever there is a need to establish the possibility of certain individuals developing certain conditions. This is mainly guided by heredity whereby one family member contracts a certain disease and there is a need to rule out the possibility of others having the same disease.

Genetics and genomics research has been vital in advancing cloning, a technique that replicates exact copies of desired organisms or cells. Cloning is vital in developing identical cells for a certain organ and replacing the damaged cells in that specific organ (Brown, 2020). Cloning identifies the exact genetic composition of the damaged cells and initiates protocols that generate replicas. This includes the generation of cells for a damaged liver where a researcher acquires cells from the victim.

They sequence these cells and grow replicates of the liver cells before replacing them to ensure the patient has a functional liver. Genetics and genomics have also been vital in the development of medicines for the treatment of various conditions. The study of the genes and the various processes involved has been crucial in enabling researchers to identify certain pathways that can be manipulated (Morrell et al., 2019). Upon identification of a pathway that is affected in the occurrence of a certain disease, researchers develop medicines that target this mechanism. The drugs rectify the error and prevent the occurrence of the anticipated disease or reverse the damage to assure health for the victim.

Impact of Culture on Genetic/Genomics

Genetics and genomics are well-advanced fields in healthcare that have achieved massive challenges in usage due to cultural and religious beliefs. Some people may have access to these services but avoid using them due to the belief that such scientific advances contravene their beliefs (Modell et al., 2019). Certain religions discourage their members from seeking scientific medical care due to the stigma associated with this form of healthcare. This includes using fields such as genetics due to the belief that modern practices interfere with their faith. They believe that scientific research is akin to competing with their supreme deity and that such investigations are too detailed for the liking of their supreme being. Some religions believe that science competes with the perfect work of creation executed by their deity. They encourage their believers to subscribe to the things taught and to disregard genetic and genomic medical aid, hence minimal usage.

Some health beliefs are misled and encourage people to wait in earnest for recovery and this has led to the deaths of people who could be helped. Some family values encourage the treatment of members who become enlightened and compassionate towards genetics with distaste. They treat these people as outcasts and discourage associating with these people within their spheres of influence. Some people, though knowledgeable, avoid association with genetics and genomics out of the fear of banishment due to traditions. The traditions highlight extensive reliance on outdated health practices. The culture of mistrust towards western medicine that birthed genetics and genomics is widespread in some parts of the world (Scherr et al., 2019). This is due to the dark history associated with western medicine such as human experimentation and torture. The dark ages highlighted a period of medical advancement at the expense of the lives of innocent people. The experimentation was brutal and sometimes without anesthesia, hence the pain. People who have heard stories about how western medicine oppressed their ancestors are apprehensive towards genetics and genomics.

Conclusion

In conclusion, genetics and genomics are crucial healthcare fields and promise to revolutionize the handling of disease and health. Genetics deals with the study of genes and their influence in inheritance while genomics prioritizes the entire human genome with an aim of combating genetic diseases. There is a surge of healthcare professionals oriented to prioritize these fields, including nurses. Nurses play a key role in familiarizing genetics and genomics with most of their patients while contributing to research that increases available knowledge. Genetics and genomics encounter ethical challenges due to the impact of the knowledge discovered during genetic research.

The research acquired from genetics and genomics has been vital in bettering cloning and pharmacokinetics. This is essential as it promises to combat more diseases through prevention before their occurrence and cure before their deterioration. Genetics and genomics also encounter difficulties arising from family differences and religious differences. There is a need for widespread sensitization amongst all people on the importance of genetics and genomics. Further research into the two is also paramount to ensure more alternative treatment protocols are discovered and perfected for the sake of the patients.

References

Beery, T. A., Workman, M. L., & Eggert, J. A. (2018). Genetics and genomics in nursing and health care. F.A. Davis.

Brown, T. A. (2020). Gene cloning and DNA analysis: An introduction. John Wiley & Sons.

Coughlin, C. R. (2020). The ethics of genetics research. Handbook of Research Methods in Health Psychology, 99–113. Web.

Hickey, K. T., Taylor, J. Y., Barr, T. L., Hauser, N. R., Jia, H., Riga, T. C., & Katapodi, M. (2018). Nursing genetics and genomics: The International Society of Nurses in Genetics (ISONG) survey. Nurse Education Today, 63, 12–17. Web.

Marchant, G., Barnes, M., Evans, J. P., LeRoy, B., & Wolf, S. M. (2020). From genetics to genomics: Facing the liability implications in clinical care. The Journal of Law, Medicine & Ethics, 48(1), 11–43. Web.

Modell, Stephen M., Citrin, T., Burmeister, M., Kardia, Sharon L. R., Beil, A., & Raisky, J. (2019). When genetics meets religion: What scientists and religious leaders can learn from each other. Public Health Genomics, 22(5-6), 174–188. Web.

Morrell, N. W., Aldred, M. A., Chung, W. K., C. Gregory Elliott, Nichols, W. C., Florent Soubrier, Trembath, R. C., & Loyd, J. E. (2019). Genetics and genomics of pulmonary arterial hypertension. European Respiratory Journal, 53(1), 1801899. Web.

Scherr, C. L., Ramesh, S., Marshall-Fricker, C., & Perera, M. A. (2019). A review of African Americans’ beliefs and attitudes about genomic studies: Opportunities for message design. Frontiers in Genetics, 10. Web.

Stark, Z., Dolman, L., Manolio, T. A., Ozenberger, B., Hill, S. L., Caulfied, M. J., Levy, Y., Glazer, D., Wilson, J., Lawler, M., Boughtwood, T., Braithwaite, J., Goodhand, P., Birney, E., & North, K. N. (2019). Integrating genomics into healthcare: A global responsibility. The American Journal of Human Genetics, 104(1), 13–20. Web.

Epigenetics refers to the study of how one’s own behavior and environment can affect the way in which the genes work. Unlike changes that occur directly in the genes, epigenetic changes can be reversed and do not affect the DNA sequence; however, they can change the way in which the body reads the DNA sequence. For example, when one encounters two identical twins, their appearance shows some differences, even though they start out looking the same. As the two twins age, the impact of environmental and behavioral factors becomes more prominent, contributing to the changes and differences between the two twins. Therefore, epigenetics could be used as a critical framework for understanding one’s propensity to develop a particular health condition.

When it comes to the considerations of epigenetics in terms of a disease for which an individual is at high risk, it is necessary to consider family history as well as environmental factors that add to the development of the adverse health condition. Considering all factors, the most highly likely disease to develop in the future is type 2 diabetes. Type 2 diabetes refers to an impairment in the way in which the body regulates and uses sugar as fuel (Rosen et al., 2018). It is a chronic condition that can be managed with medication and lifestyle changes but cannot be cured completely with no traces of the condition left behind. This conclusion was made based on several factors concerning family history and environmental and behavioral factors.

Specifically, both the parent and the sibling had type 2 diabetes, diagnosed as adults. In adulthood, type 2 diabetes is likely to develop as a result of behavioral and environmental factors, such as increased blood pressure, elevated levels of fat in the blood, a sedentary lifestyle, high alcohol intake, obesity and overweight, and others (Rosen et al., 2018). Therefore, since there are direct DNA connections between a parent and a sibling, both of whom developed diabetes as adults, it is essential to consider such information as highly relevant. Other potential diseases included breast cancer, glaucoma, and thyroid disorder, which were identified in other relatives, for which the risk factors are lower.

Epigenetics suggests that even in the case of genetic risk factors, there is a possibility to either increase or reduce the chances of developing a disease with the help of environmental and behavioral improvements. Besides, researchers have been focusing on a new research agenda, emphasizing the interactions between health and environmental and social factors. Therefore, social determinants of health represent a considerable part of epigenetics as it seeks to explain any non-medical factors that directly influence health, such as values, attitudes, knowledge, and behaviors (Notterman & Mitchell, 2016). Besides, across an individual’s lifespan, health can be significantly affected by social disadvantages.

The study of epigenetics has considered the control of both disease and homeostasis. Considering that the risk of diabetes and its complications is associated with environmental and inherited factors, it is not surprising that research in this area is extensive (Rosen et al., 2018). In addition, Rosen et al. (2018) stated that there are several areas of epigenetic regulation, such as direct methylation of adenine or cytosine residues, covalent modifications to histone proteins, higher-order chromatin structure, and non-coding RNA. These areas have been implicated in cellular processes that are relevant to diabetes, with a long history of links between diabetes and epigenetics, as well as other metabolism-related challenges that include obesity, overweight, and other metabolic disorders.

It is notable that the risk of diabetes development in an individual has been linked to increased rates of micro- and macrovascular complications. Clinical trials conducted among people with diabetes have underlined the positive effects of intensive glycemic control to avoid the occurrence of complications and their progression. Specifically, the rate of complications associated with diabetes can be influenced by glucose levels that were experienced years earlier, which is referred to as metabolic memory (Rosen et al., 2018). Energetic changes can offer a biological explanation for the long-standing impact of metabolic changes, as metabolite levels can impact the epigenome while such changes are preserved during the division of cells.

Importantly, studies focusing on cells and tissues from patients diagnosed with diabetes have illustrated striking differences in epigenetic marks at core genes linked to complications, including fibrotic and inflammatory genes. For example, the authors refer to the article by Beckerman, Ko, and Susztak (2014), who used kidney tissues from patients diagnosed with diabetes and chronic kidney disease to illustrate epigenetic changes in renal disease-related genes. In addition, epigenetic mechanisms have been shown to influence cellular models of metabolic memory.

Therefore, the epigenetics article showed that diabetes and complications associated with it could have a combined effect on the variations in DNA sequence, with environmental effects influencing shifts in the cellular phenotype. Because epigenetics as a field develops rapidly, there is a possibility to facilitate the work on the exploration of the cell-type-focused epigenome atlas. Such maps can be used for interpreting genetic variations and highlighting the ways in which such variations lead to disease development. Moreover, epigenome maps that include considerations of genomic and genetic data can enhance the understanding of mechanisms in which environmental changes contribute to the development of diabetes.

After completing the Living to 100 Questionnaire, it was found that the life expectancy was 83, which is quite a good score. However, it is necessary to consider the impact of epigenetics as an indicator that environmental factors and genetics could reduce the quality of life. The family history suggests that diabetes could be a potential contributing factor. Specifically, the combined diabetic life expectancy is 74.64 years (Tachkov et al., 2020). This points to the need to implement positive life changes and adhere to a healthy lifestyle to increase life expectancy and prevent the development of diabetes, given the increased risk identified in the challenges of family history.

To improve health and longevity in light of the findings of the questionnaire and the identified epigenetics implications, it is necessary first to engage in regular health assessments to ensure that a prediabetic state can be placed in time while preventive measures are implemented. Besides, considering the contributing factors to diabetes, it is necessary to stay physically active, have a healthy diet based on the general recommendations of healthcare providers, pay attention to weight gain, as well as not engage excessively in harmful habits such as smoking or drinking. Regular check-ups and timely treatment plans are also imperative to consider because they can be helpful in preventing the development of adverse health conditions at their earliest stages.

References

Beckerman, P., Ko, Y-A., & Susztak, K. (2014). Epigenetics: A new way to look at kidney diseases. Nephrology Dialysis Transplantation, 29(10), 1821-1827. Web.

Notterman, D. A., & Mitchell, C. (2015). Epigenetics and understanding the impact of social determinants of health. Pediatric Clinics of North America, 62(5), 1227-1240. Web.

Rosen, E. D., Kaestner, K. H., Natarakan, R., Patti, M-E., Sallari, R., Sander, M., & Susztak, K. (2018). Epigenetics and epigenomics: Implications for diabetes and obesity. Diabetes, 67(10), 1923-1931. Web.

Tachkov, K., Mitov, K., Koleva, Y., Mitkova, Z., Kamusheva, M., Dimitrova, M., Petkova, V., Savova, A., Doneva, M., Tcarukciev, D., Valov, V., Angelova, G., Manova, M., & Petrova, G. (2020). Life expectancy and survival analysis of patients with diabetes compared to the nondiabetic population in Bulgaria. PloS One, 15(5), e0232815. Web.

Male pattern baldness is a common problem among men. It is a natural phenomenon that is normally related with aging; however, it can affect anyone. In the normal hair growth cycle, everyone loses about hundred hairs a day. Up to fifty percent of all men face this problem at some point of time in their whole life (Kivi & Solan, par. 2). But excessive hair loss can be distressing and depressing and becomes a major cause of concern for the affected person (Salamon, par. 1).

Male pattern hair loss is also known as Androgenetic alopecia (AGA). Normally, it starts at the forehead and then draws back the hairline down the sides. The remaining hair may also become thinner and shorter. How much hair a man may lose depends on his genetics.

Forms of male pattern baldness

Male pattern hair loss or AGA can be seen in two forms.

Frontal hair loss: Frontal hair loss can be seen on the forehead which does not create any effect on the top of the head, the crown area.

Vertex hair loss: Vertex hair loss can be observed on the top of the head which is crown area and does not touch the hairline of the forehead (Liu & Aspres, par. 2).

Dr O’tar Norwood has described male hair loss through various normally used classifications. The classification, published in 1975, describes two chief patterns of male baldness. It includes “a bitemporal recession and thinning crown- gradually enlarge and coalesce until the entire front, top and crown (vertex) of the scalp are bald” (“Classification of Hair Loss in Men” par.1).

• Class 1: This class does not actually represent balding rather shows the adolescent hairline that rests on the upper brow line.
• Class2: This class represents the adult or mature hairline. The hairline shows some temporal decline and rests one finger above the upper brow line. However, this also is not a sign of balding.
• Class3: This class shows the early signs of male balding in the crown area. There is an expanding temporal downturn seen.
• Class4: At this stage, expanded frontal hair loss and extension of vertex is quite visible. Nevertheless, the division of front and vertex with a solid band of hair can be observed.
• Class 5: The band of hair between the front and crown diminishes.
• Class 6: This classification depicts the picture of large bald area on the front and top of the scalp. The hairline on the sides is still high.
• Class 7: Here, one can observe only a band of hair left on the sides and at the back of the scalp.

Norwood Class A

This class represents the patterns of hair fall starting from front to backward. There is no connecting band of hair across the top of the scalp and less hair fall is likely to occur in the crown.

The Norwood Class A patterns are not much responsive to the medication and require surgical restoration at an early stage. Men with this kind of baldness are more receptive to hair transplantation (“Classification of Hair Loss in Men”, par.3).

Causes of hair loss

Hair loss can occur due to many reasons including illness, strain due to some surgery, sessions of radiotherapy and chemotherapy, as a result of some fungal infections, hormonal problems, side-effects of certain medications and blemishes from burns. Certain health conditions lead to sudden hair loss redness, scaling and soreness (Liu & Aspres, par.4).

“Male pattern hair loss largely relates to a person’s inherited genetic sensitivity to the effects of dihydrotestosterone or DHT in certain areas of the scalp. The age of starting hair fall, its pattern, sequence and severity depends on various genes of a particular family. Not only men but also women with excessive androgen levels and genetic tendency may show the signs of pattern baldness. Hair follicles are substituted at different rates by the normal course of hair cycling” (“Male Pattern Hair Loss”, par.2). There are different stages of hair growth movement and rest. “The growth period or the anagen phase continues for two to six years. This is the stage when the follicle is deep and long producing thick and well-pigmented hair. The second stage or catagen phase lasts for a few weeks when the follicle shrivels and lastly the telogen phase that remains for two to four months shrinking the follicle even more” (“Male Pattern Hair Loss”, par.2). It is again followed by the anagen phase when a new hair takes place of the older one after it falls out (“Male Pattern Hair Loss”, par.2).

According to experts, the male pattern baldness relates to the defects in the development of hair. Baldness does not occur only due to the lack of hair; instead the new hair grows so small that it cannot be seen with the naked eye. Therefore, the hairline seems to be shrinking, creating the typical bald mark. According to the US team studying this matter, the stem cells producing new hair are responsible for this malfunction. They believe that male baldness can be treated by re-establishing the normal function of these cells. A study conducted by the University of Pennsylvania established that the number of stem cells in both bald areas and hairy areas was equal but the matured cell known as the progenitor cells, were less. According to Dr.George Cotsarelis, who was leading this research, “This implies that there is a problem in the activation of stem cells in bald scalp.” He further added that, “The fact that there are normal numbers of stem cells in bald scalp, gives us hope for reactivating those stem cells” (Roberts, par. 5).

“In a research on the pattern male baldness it is observed that the defect in conversion of hair follicle stem cells to progenitor cells is responsible for the pathogenesis of common baldness or AGA in men” (Garza,et.al , par. 4), Paus & Cotssarelis,( n.d.) state that “In AGA, large terminal follicles diminish in size with time, and the resulting miniaturized follicle eventually produces a microscopic hair. “Miniaturization of the follicle takes place as the hair follicle cycles. All follicles continuously cycle from growing stage (anagen), to an involutional stage (catagen), and then to a resting stage (telogen), before again entering anagen.”(as cited in Garza,et.al , par. 2). The cause of AGA is the smallness of the new lower hair follicle at the stage of inception. According to Price (1999), “Testosterone is necessary for miniaturization, and type 5-α-reductase type II inhibitors, which block conversion of testosterone to its more active form, dihydrotestosterone, delay progression of AGA.” (as cited in Garza et al, par. 2).

An androgen by the name of Testosterone is found in men, which helps in normal generative and sexual functioning. The testosterone converts into dihydrotestosterone (DHT) and works on the hair follicles along with acting on the other parts of the body. Sometimes, due to increased sensitivity of the hair follicles to DHT, hair growth is affected resulting into weak and short hair (Liu & Aspres, par. 6).

Genes vs. Environment: Various researches have indicated that genetic factors play greater role in male pattern baldness than environmental factors. Androgens, male sex hormones, are responsible for doing many functions in men that takes account of ruling hair growth. Though many researches are being conducted to study if there are any risky features of this condition, still many of the issues are unidentified (“Androgenetic alopecia”, par.2).

Investigators have dogged that this type of hair loss can be connected with hormones, androgens. These hormones are very important for men before birth and during puberty (“Androgenetic alopecia”, par.2).

Follicles are the elements which play main role in the growth of hair under skin. Androgenetic alopecia happens when hair follicles start lessening (‘Male Pattern Baldness”, par.3). Normally a single hair grows for a few years and after sometime it is substituted by a new hair strand. It is a normal cycle of a hair growth. The hair follicle is lesser in the case of male pattern baldness. It grows tinier and better strands and in due course of time stops growing” (Kivi & Solan, par. 6).

The most known cause of male pattern baldness is heredity that is normally harmless. Male pattern baldness can be checked by the pattern of hair loss. The small hair loss is most of the time not much noticeable since we have about 100,000 hairs on our head and the lost hairs are normally substituted by new hair but it does not happen always. Hair loss can happen in many years or sometimes suddenly. It could be everlasting or for the short-term (Kivi & Solan, 2012).

A person could be losing more hair than it is normal if one finds that (Kivi & Solan, 2012):

• After washing hair there is a big amount of hair in the drain
• Clomps of hair while brushing
• Thin patches of hair
• One experiences baldness

There are both unknown and known genetic factors like SNPs which are responsible for male pattern baldness. “The researches show that there are many genes which affect androgenetic alopecia but variations in one gene, that is AR, have been recognized. The AR gene gives instructions for making protein, which is called androgen receptor” (“Androgenetic Alopecia”, par. 6). With the help of AR the body is able to respond to dhydrotestosterone and other androgens. The deviation in androgen receptor (AR) gene is responsible for reducing the age of hairs of men. This is the stage when men start losing hair and become bald. There was a long established notion that male pattern baldness was caused by a single gene that was passed on by mother on the X chromosome. It was also believed that the hair loss would occur in a typical manner and women were less prone to this type of pattern baldness. AR gene exists in the X chromosome. It is commonly understood that baldness is normally inherited from mother to son. A man inherits X chromosome from his mother. He has one X chromosome. “A man having baldness-promoting version of the AR is believed that he has received it from his mother. But his mother receives one X chromosome from her mother and one from her father. It makes sense that baldness could have come from man’s maternal grandfather” (“Male Pattern Baldness”, par. 7).

Another SNP, which is chromosome 20, has been interrelated with male pattern baldness. Though its influence on the gene is not yet known. Still more researches are required to know the effect of this SNP on male pattern baldness (“Male Pattern Baldness”, par. 7).

A research done by Markus Nothen, a genomics professor at Germany’s University of Bonn and his colleagues also reveal that gene variation becomes the cause of hair loss. “As X chromosome plays vital role in this, which is inherited by men through their mothers, one can have an idea of the future of his scalp by seeing the men from his mother’s side’ (Hitti, par. 2).

A survey was done on 95 families by the team of Nothen. In the group there were at least two brothers having premature male pattern hair loss. In total 200 men, who were affected with hair loss, participated in this survey.

In a news release Nothen said that, “Genetic screening showed that the ‘cardinal prerequisite’ for premature male pattern baldness was a variation in the androgen receptor gene. The gene variant was found “very much more often” among prematurely bald men than among men who still had a full head of hair after age 60” (Hitti, par. 9).

Alex Hillmer, the colleague of Nothen revealed that though the particular mechanisms are not recognized, yet gene variation contributes in enhancing the impact of androgens that becomes the main cause of hair loss (Hitti, par. 10).

According to the study, baldness can be affected by other genes too, which the men can inherit from their fathers. Nothen mentions “We have indications that other genes are involved, which are independent of the parents’ sex. So hair loss could be a father-son inheritance too” (Hitti, par. 12).

One more small study was conducted in 1916 encompassing 22 families. However, recent researches put forward a more intricate situation. These researches establish that the there are multiple genes responsible for male pattern baldness and these genes are not necessarily coming from the mother’s side. Further, these researches also reveal that there is an additive effect attached with each engrossed gene. According to a major Australian study published in the Journal of Investigative Dermatology, there was no clear pattern of inheritance or gene predisposition found accountable for male pattern baldness. Further, a strong connection between the baldness tendencies of fathers and sons was evident in the study. However, there are greater chances of developing baldness in men if either the mother’s side or the father’s side has a tendency of male baldness (Ray, par. 4).

Keeping in view the possibility of two or more genes linkage, liable for the development of male pattern baldness, a study was conducted by Hillmer et al in 2008. It focused on the testing of “genome- scan data for interaction between the X chromosomal region containing the AR gene locus and all autosomal loci” (Hillmer et al, 2008, Para 8) The study relative to the genome –wide linkage scans for AGA susceptibility loci suggests, “AGA susceptibility genes in autosomal regions showing evidence for linkage confer their risk through pathways other than the classical androgen pathway” (Hillmer et al, par. 9).

Treatment

Surgery: The process of surgery is to attach tiny plugs of hair in the scalp which is affected with baldness. The source of these plugs is the hairy areas of the scalp. This process may cause threat of skin infection to some extent. Scars may also occur on the scalp in this process. This process involves several sessions and can be exorbitant, however, yields satisfactory and stable results (Liu & Aspres, par. 8).

Medicines: Besides surgery, there are some medicines too that can have a positive effect on stopping the pattern baldness in men. These medicines can prevent or slower hair loss. Sometimes new hair growth is also observed in some men. The two chief medicines used for this purpose are Finasteride and Minoxidil (Liu & Aspres, par. 8).

Finasteride: “This medicine also known as Propecia ®, comes in the form of tablet and helps in preventing the conversion of testosterone to DHT, thereby not affecting the follicles and allowing the hair to grow normally” (Liu & Aspres, par. 8).

Not all men taking Finasteride may show signs of hair regrowth but in most cases, the hair fall reduces to a major extent. The hair grows mostly in the crown. People need to take the treatment on regular basis for its stability and no significant side effects of the medicine are observed except a loss of sex drive in very few men (Liu & Aspres, par. 9).

Minoxidil: This lotion is also known as Rgaine®, Hair Retreva® or Hair a-gain®. This lotion is applied on the scalp to prevent balding. Delaying of balding or hair regrowth appears after rubbing this lotion on the scalp daily for four months. There are no noticeable side effects of the medicine except for some cases skin irritation and rash.

Myths about male pattern hair loss: There are many myths prevailing related to the pattern hair loss in men. Some people suggest that standing on one’s head may prevent the process of balding by increasing the blood flow to the hair follicles. However, there are no evidences backing this blood-flow theory. “Another myth related to the pattern hair loss in men is that the genetic causes are passed down from the mother’s side. However, genetics is the main cause of male baldness but there are several genes liable for it and they may come from the side of mother or father both” (Salamon, par. 4).

Moreover, there is a myth that people with higher levels of male sex hormones testosterone are affected with male pattern hair loss; however, the increased levels of testosterone cannot be associated with male pattern baldness (Liu & Aspres, par. 8).

Natural or alternative therapies: The National Institute of Arthritis and Musculoskeletal and Skin Diseases declares that there are no medical researches backing the alternative therapies for hair fall treatment, but Chinese herbs, zinc and vitamin supplements, evening primrose and aroma therapy and acupuncture may be helpful in improving alopecia areata. However, any therapy or treatment should be taken after consultation with the physician (Salamon, par. 4).

References

Androgenetic alopecia, 2013. Web.

Classification of hair loss in men. 2013. Web.

Garza, Luis A, Yang, Chao Chun, Blatt, Hanz B., Lee, Michelle, He, Helen, Stanton, David C., Carrasco, Lee, Spiegel, Jeffery H., Tobias, John W. & Cotsarelis, George. “Bald scalp in men with androgenetic alopecia retains hair follicle stem cells but lacks CD200-rich and CD34-positive hair follicle progenitor cells.” J Clin Invest. 121.2 (2011):613–622. Web.

Hillmer, Axel M.,Flaquer, Antonia, Hanneken, Sandra, Eigelshoven, Sibylle, Kortum, Anne-Katrin, Brockschmidt, Felix F., Golla, Astrid, Metzen, Christine, Thiele, Holger, Kolberg, Susanne, Reinartz, Roman, Betz, Regina C., Ruzicka, Thomas, Hennies, Hans Christian, Kruse, Ronald & Nothen, Markus M. “Genome-wide scan and Fine-Mapping linkage study of Androgenetic Alopecia reveals a locus on chromosome 3q26.” Am J Hum Genet. 3; 82.3 (2008):737–743. Web.

Hitti, Miranda. “Blame male pattern baldness on mom?”Webmed. 2005. Web.

Kivi, Rose & Solan, Matthew. “Male pattern baldness.”Healthline. 2012. Web.

Liu, A/Professor Peter Y & Aspres, Dr Nicholas. “Factsheet- Male pattern hair loss.” 2013. Web.

Male pattern baldness, 2013. Web.

Male Pattern Hair Loss, 2013. Web.

Ray, Claiborne C. “Genes and baldness.” 2004. Web.

Roberts, Michal. “Cause of male baldness discovered, experts say.” 2011. Web.

Salamon, Maureen. “Hair loss and balding: Causes, symptoms & treatments.”Livescience. 2013. Web.

Introduction

Genetic discrimination remains a significant societal threat whose destructive effect is to create unequal opportunities for people based on their genetic profile. Genetic discrimination adversely affects people in employment and health insurance contracts: in pursuit of self-interest, vested interests create knowingly unequal conditions for vulnerable populations. In support of the 2001 ECOSOC resolution, national governments across North America have developed their own legislative projects to protect people’s rights. These include the targeted GINA Act from the U.S., which has already been shown to be effective for protection, the GNDA Act from Canada, which was just recently enacted, and an amendment to Mexico’s FLPED law. Each of these initiatives empowers genetically vulnerable groups legally and guarantees protection from discrimination. The use of such projects in jurisprudence is essential, as it allows for a transition from the theoretical foundations of protection to the actual practice of security safeguards. This means that patients’ personal data about their genetic profile have privacy, and forcing individuals to perform tests for the needs of employers or insurance companies is illegal. This essay examines national initiatives and proposals in detail and explores a civil rights program to protect against genetic discrimination by employers and insurance companies.

Bioethics Genetic Manipulation and Personal Data

In genetic engineering, one of the critical issues remains the study of bioethical considerations that regulate issues of personal data and patient confidentiality. For the current stage of medical development, genetic, epigenetic, and genomic interventions are not a rare practice, but on the contrary, it is quite actively used to study the patient’s genetic profile (Pujol et al., 2020). Becoming more personalized, the modern clinical practice provides a virtually individualized approach to treatment based, among other things, on the patient’s genetic portrait. In particular, this makes it possible to establish hereditary susceptibility to specific diseases, the potential for mutations, and the presence of preexisting nucleotide abnormalities. Although this is an excellent preventive and targeted treatment strategy because the cause and effect of pathogenesis are almost genuinely known, the personalized approach has a downside. This concerns the possibility of genetic discrimination, in which an individual receives unequal, partial care based only on the presence of a genetic mutation that increases the possibility of inherited disease. More specifically, it assesses the possibility of unequal treatment by employers or insurance companies but does not cover public antipathy toward such people since the latter is not legally regulated.

For example, if a company employee has a proven genomic abnormality that increases their chances of having sickle cell anemia, Down syndrome, or inherited cancers, this could cause-specific treatment by employers or insurance companies. There have been known cases where, because of genetic abnormalities, insurance companies have denied service to patients or offered them disadvantageous packages (Alexander, 2019). Texas-based health insurer GWG Life collected saliva samples from their customers in order to build their genetic profile and thus offer cheaper packages for epigenetically healthier individuals (Dupras et al., 2018). In addition, it has become increasingly reported that during COVID-19, patients with genetic mutations whose records were in medical records began to receive worse clinical care (Field et al., 2021). The above scenarios are the genetic discrimination that people are subjected to at work, in medical and insurance organizations, and in society every day.

Genetic discrimination is a problem of bioethical significance in which a patient’s confidential rights are violated to create favorable conditions on the part of the person or company who is the subject of the discriminatory practice. Clinical technologies continue to improve, and the progressivity of genetic manipulation can be expected to make a qualitative leap in the next decade. Such expectations, in turn, raise concerns about the likelihood of increasing genetic discrimination against individuals based on their genomic profile but not on merit, skills, and knowledge. With this in mind, major international agencies and national governments are developing initiatives to protect the private rights of such patients. One iconic, such body is ECOSOC, a department of the United Nations. In a 2001 resolution, ECOSOC calls on states to ensure that citizens are fully protected from genetic discrimination and protect the private rights of the public in cases of genetic testing (Belova, 2013). From a bioethical perspective, this includes obtaining full and informed consent for genomic analyses and complete protection of the data collected.

In nearly twenty years of active legislative developments and initiatives released under the pressure of the 2001 Resolution, many positive changes have been achieved. Indirect evidence of this is the removal of the sub-item “Genetic privacy and non-discrimination” from the ECOSOC agenda by the 2012 Resolution (UN, 2012). In this context, the GINA Act, quoted by the U.S. Congress in 2008 (Suter, 2018), draws particular attention. Passed by President Bush, GINA covers the need to protect people in two sections: health insurance and employment. Section I postulates that the use of an individual’s genetic information to make decisions about insurance packages is prohibited. Thus, if a patient has a proven genetic abnormality, GINA strictly prohibits the use of that data for insurance decisions. In Section II, the law postulates a prohibition against discriminating against an employee in promotions, career advancement, hiring, or other corporate decisions based on genetic information. Thus, according to GINA, an employee with a predisposition to hereditary cancer will not be treated unequally by the firm’s management.

In contrast to the U.S., Canada has comparatively recently initiated a law against genetic discrimination, with its public acceptance still the subject of debate. In particular, the 2017 GNDA prohibits Canadian employers from requiring any genetic data from employees that might be valid for specific decisions (le Ministre de la justice, 2021). In addition, the GNDA imposes restrictions on the ability of interested parties to require an individual to undergo screening. Since its adoption in 2017, however, several public outcries, including from insurance companies, did not support its introduction, which delayed the implementation of the GNDA. It was not until 2020 that the Supreme Court of Canada fully embraced the law nationally, opposing a cabinet minister who had previously refused to support the initiative (Stefanovich, 2020). Thus, Canada’s jurisdiction protects individuals from genetic discrimination.

As another third of the national representations on the continent of North America, the Mexican government has also taken several steps toward rejecting discrimination. Mexico already had a FLPED law passed back in 2003, which prohibited discrimination and guaranteed social and cultural equality (Brogna, 2014; Joly et al., 2020). Only recently has the Mexican government expanded FLPED with an amendment to the genetic discrimination waiver from insurance companies and employers. In addition, a separate GSA law was passed in 2011 to ensure that information collected in genomic research is subject to the protection of private rights, and therefore cannot be used without the client’s consent (Rojas-Martínez, 2015). Thus, there have been some positive initiatives in Mexico to protect individuals’ private rights against genetic discrimination.

This is not to say that the initiatives created are entirely perfect since genetic discrimination has not ceased to be a threat, although its frequency has probably decreased. For example, GINA does not cover cases of companies with up to fifteen employees, which means that no one is safe from discrimination in ultra-small businesses. In addition, GINA does not protect against discrimination in insurance solutions other than medical, which means that such forms of unequal treatment may persist in insurance plans related to real estate or disability. In addition, private companies often circumvent federal law: this is true of Mountain Grove, Mo. of the United States, which required applicants to fill out a medical history before hiring (EEOC Headquarters, 2016). In that case, a federal judge ruled under GINA that Mountain Grove, Mo. violated the law. An exciting court case was handled in 2015 when Atlas Logistics Group Retail Services forced two employees to submit DNA samples to determine the identity of an employee who was “emptying” in a food warehouse (Suter, 2018). In that case, the plaintiffs (employees) sued the employer and won, further demonstrating the effectiveness of GINA in protecting the genetic rights of citizens.

Discussion

In underscoring the above, we must once again conclude that protecting individuals’ privacy, civil rights, and freedoms with respect to genetic manipulation is a sensitive issue. Medical technology continues to improve exponentially, which means that the threat of disadvantageous use of genetic information will soon become even more pressing. On the other hand, the number of mutations and hereditary anomalies seems to be increasing among humanity, which may be due to either an increasing population or a slow evolutionary change in the gene pool of Homo sapiens. The combination of these effects leads to the possibility that genetic discrimination may become part of the everyday practice of the future, and thus there is an urgent need to address this issue legally.

The national and international initiatives discussed above are effective practices for addressing the problem at the federal level. As has been shown, it does provide protection for individuals against the illegal actions of employers and insurance companies. In addition, it should be said that it creates a positive environment in which the public can be assured that they have safeguards against this type of discrimination. However, the societal stigma of people with genetic mutations is hardly solved by national laws alone: people with hereditary diseases can still be under societal pressure (Oudin-Doglioni et al., 2019). Although GINA, GNDA, and FLPED provide a foundation for combating organizational discrimination, more work is still needed to address the public bioethical problem.

Conclusion

In conclusion, genetic discrimination is a significant societal problem that leaves people with predispositions to inherited disease vulnerable. Modern medicine indeed continues to progress, which means that innovative diagnostic technologies are becoming more accessible. It is very likely that doctors will be able to determine the complete genetic profile of an embryo in the next few years, which will be a revolution for health care. This will improve the human gene pool by preventively deciding to abort those fetuses that are guaranteed to have health problems. For adults, this works even more obviously: by having their own genetic profile, the individual will be able to manage their health and monitor their quality of life, eliminating deleterious factors. However, improving clinical agendas has the opposite effect: it raises problems of genetic discrimination.

The stigmatization and unequal treatment of people who have hereditary abnormalities are critical to society. People are discriminated against by employers and insurance companies, which refuse to cooperate or create knowingly disadvantageous conditions of cooperation for citizens. In an attempt to minimize the destructive effects, the world community developed a resolution banning genetic discrimination. This initiative prompted national legislative developments to curb such a problem. It was considered that the governments of the USA, Canada, and Mexico have been implementing the practice of legal protection of citizens against violation of laws for several years. This includes initiatives such as GINA (US), GNDA (Canada), and FLPED (Mexico). It has also been shown that these laws have already been applied in litigation, which means that they have proven effectiveness. More specifically, two court cases were examined in which commercial companies had demonstrated discrimination against employees: this involved forcing the latter to surrender genetic material, which made sense for management purposes. In an attempt to create favorable conditions for themselves, such companies opposed national laws. As a consequence, the courts ended up in favor of the plaintiffs, forcing the companies to pay large compensations. However, it is still a big question to root out genetic discrimination at the societal level, which would fully protect vulnerable groups from the oppression of societal pressures.

References

Alexander, A. (2019). Peeking at your genes can raise red flags for life insurers. Bloomberg Law.

Belova, G. (2013). Some Comments on Human Rights and Bioethics. Balkan Social Science Review, (1), 39-49.

Brogna, P. (2014). Los juegos de verdad en el discurso jurídico de la igualdad: Notas sobre los derechos humanos y el derecho a la no discriminación de las personas con discapacidad [PDF document]. Web.

Dupras, C., Song, L., Saulnier, K. M., & Joly, Y. (2018). Epigenetic discrimination: emerging applications of epigenetics pointing to the limitations of policies against genetic discrimination.Frontiers in Genetics, 9, 202-208.

EEOC Headquarters. (2016). Court grants judgment in favor Of EEOC in disability and genetic discrimination case. EEOC.

Field, R. I., Orlando, A. W., & Rosoff, A. J. (2021). Genetics and COVID-19: How to Protect the Susceptible.Trends in Genetics, 37(2), 106-108.

Joly, Y., Dupras, C., Pinkesz, M., Tovino, S. A., & Rothstein, M. A. (2020). Looking beyond GINA: policy approaches to address genetic discrimination. Annual Review of Genomics and Human Genetics, 21, 491-507.

le ministre de la Justice. (2021).Loi sur la non-discrimination génétique [PDF document].

Oudin-Doglioni, D., Gay, M. C., Lehougre, M. P., Arlet, J. B., & Galactéros, F. (2019). Les représentations de la drépanocytose comme déterminants de l’observance thérapeutique.Annales Médico-Psychologiques, Revue Psychiatrique, 177(6), 517-525.

Pujol, P., Fodil-Chérif, S., Mandel, J. L., Baertschi, B., Sanlaville, D., Zarca, D.,… & Geneviève, D. (2020). Réflexions éthiques sur le dépistage génétique préconceptionnel en population générale: le débat français et l’avis de la Société Française de Médecine Prédictive et Personnalisée. Ethics, Medicine and Public Health, 12, 1-12.

Rojas-Martínez, A. (2015). Confidentiality and data sharing: vulnerabilities of the Mexican Genomics Sovereignty Act.Journal of Community Genetics, 6(3), 313-319.

Stefanovich, O. (2020). Supreme Court of Canada upholds genetic non-discrimination law. CBC Canada.

Suter, S. M. (2018). GINA at 10 years: The battle over ‘genetic information’ continues in court.Journal of Law and the Biosciences, 5(3), 495-526.

UN. (2012). Resolution adopted by the Economic and Social Council [PDF document]. Web.

Plasmids are extrachromosomal hereditary determinants, that is, chromosome-independent double-stranded ring-shaped DNA molecules of various molecular weights that have replicon properties, which are the ability for independent replication. Plasmids are not the obligatory genetic material of bacteria necessary for the manifestation of their vital activity.

At the same time, plasmids can determine important properties of bacteria, for example, F-plasmid allows bacteria to transfer genetic material from donor F+ cells to recipient F cells during conjugation (Stranahan et al. 274). R-plasmids also provide resistance to antibiotics and sulfa drugs. In addition, Ent-plasmids can give bacteria an ability to synthesize toxins and form of fimbriae by which enterobacteria are attached to the intestinal epithelium.

All known plasmids are divided into conjugative and non-conjugative types. Conjugative plasmids transfer their DNA from a donor cell to a recipient cell during conjugation. Non-conjugative plasmids do not have the ability to conjugate transfer from one cell to another. The molecular weight of the conjugative plasmids can range from 26 Da to 75 Da, and the non-conjugative are not more than 10-106 Da (Sun et al. 619).

Some plasmids, such as the F-plasmid, have the ability to exist in bacterial cells in two states, which are physically independent of the chromosome and integrated with the chromosome (Sun et al. 620). Other types of plasmids can also integrate into the chromosome of bacteria, but only in certain conditions. If the conjugative plasmid is integrated into the chromosome of a bacterium, then cells are formed that are able to transfer the genetic material of the chromosome during conjugation with the recipient cell.

In conclusion, plasmids play an essential role in giving bacteria extrachromosomal genetic variation and properties, which can increase the chances of overall survival. They can act as a method of direct intercellular DNA transfer that makes allow other F bacteria to acquire additional information without dividing into daughter cells.

Works Cited

Stranahan, Lauren W., et al. “Rhodococcus Equi Infections in Goats: Characterization of Virulence Plasmids.” Veterinary Pathology, vol. 55, no. 2, 2018, pp. 273-276.

Sun, Jingjing, et al. “Intracellular Plasmid DNA Delivery by Self-Assembled Nanoparticles of Amphiphilic PHML-b-PLLA-b-PHML Copolymers and the Endocytosis Pathway Analysis.” Journal of Biomaterials Applications, vol. 31, no. 4, 2016, pp. 606-621.

In my understanding, epigenetics can be interpreted as an aspect that regulates a person’s genetic set, how it is formed, what it is responsible for and which cells are responsible for which functions. In other words, epigenetics determines how external factors and behaviour affect the work of genes. Moreover, this aspect does not directly affect the work of the human DNA system, but it can affect how the body interprets each DNA chain.

After watching the video, an interview was conducted with family members about the diseases they have. Henceforth, in my family, the only serious disease that occurs in my family is diabetes mellitus in my grandfather. Moreover, my grandmother has vision problems in the form of glaucoma, which has serious consequences for her vision. Further, one of her eyes sees almost nothing, and the second one also sees quite poorly due to high blood pressure. As for my parents, my father has high blood pressure; otherwise, he and my mother are quite healthy.

For the study, I chose an article written by Ling and Rönn, which is called “Epigenetics in human obesity and type 2 diabetes”. The choice was made in favour of this study since the most serious disease that exists in my family is diabetes mellitus. First of all, in the scientific work, the authors note that all experiments and research in the field of epigenetics are quite new and relatively little information is available for acquisition. Thus, they define this concept as “heritable changes in gene function that take place without a change in the DNA sequence” (Ling & Rönn, 2019, p. 1028). This fact also confirms my interpretation of the concept under study.

Further, the article notes the importance of studying the relationship between epigenetics and the occurrence of various diseases in people, especially such as diabetes mellitus. Important components of the process under study are DNA methylation, histone modifications, and RNA-mediated processes (Ling & Rönn, 2019). It is emphasized that the violation of their relationship leads to the appearance of symptoms of diabetes type two. In addition, the researchers state that “epigenetic changes in patients with diabetes may eventually contribute to vascular complications and cause complications such as retinopathy, diabetic kidney disease, stroke, and myocardial infarction” (Ling & Rönn, 2019, p. 1031). In addition, the value of this source is that it shows the relationship between epigenetics and the occurrence of abnormalities such as diabetes and obesity.

The sources of knowledge in this study were epigenetic signatures obtained from human tissue of relevance for metabolism. Among them are adipose tissue, skeletal muscle, pancreatic islets, liver, and blood. All of them can show the level of obesity and the risk of diabetes in individuals. Moreover, the article emphasizes the importance of maintaining the necessary level of physical activity and maintaining a healthy lifestyle to minimize the possibility of diseases.

The next step in this scientific work was the passage of Living to 100 Questionnaires. The first section of this test addressed general questions about my condition, the level of stress I experience, sleep and work patterns. Already at this stage, an understanding is gained that these are some of those factors that have a strong impact on a person’s well-being and state of health. Next, there were questions about lifestyle, where the main cluster was devoted to smoking. Due to the fact that I did not notice such a bad habit, so all the answers were negative.

Further testing was based on questions about physical activity and eating habits. So, there were issues related to the use of dairy and sweet products and red meat. They also asked how many times a day I exercise and how often I do it. Most of all, I was concerned about the section with medical data, as I realized that I had not been examined for a long time and did not know for sure, for example, my cholesterol level. This is a negative aspect since, as already mentioned, there is a tendency for diabetes mellitus to appear in my family.

Thus, the results of the passed testing showed that I would live to about 83 years. At the same time, it is worth remembering that these are only approximate data since the questionnaire did not focus much on the health of relatives. So, it only asked such questions as the number of relatives with one type of diabetes. As for the health of the father and mother, the questionnaire only considered options where these family members are either under eighty and healthy or older and already with serious deviations, which cannot be attributed to my family.

Findings in the questionnaire, understanding of epigenetics, and knowledge of my family history can greatly help me in finding ways to prolong life. So, I regard my lifestyle as healthy enough since I have no bad habits that can contribute to this. Among the addictions that can lower the immunity of the human body to various diseases are smoking, frequent consumption of alcohol, junk food and sweets. All this can affect the ability to withstand serious health-related problems.

The main area that requires significant changes is my general lifestyle and attitude to visiting a doctor and taking medications. Hence, an incorrect sleep schedule can also weaken my body. Moreover, I often drink coffee and drink too little ordinary water, which has many positive properties for a person. In addition, I have an unstable work schedule, which also affects the duration and quality of sleep, which is critically low.

My predisposition to such a disease as diabetes obliges me to undergo an annual examination by medical specialists. However, due to other problems and responsibilities in my daily life, I forget about this serious point. In addition, I do not take any vitamins, and taking even the simplest medications can have a positive effect on my well-being. Thus, thanks to this research work, I was able to determine my own risk zone in terms of predisposition to diabetes, learn about epigenetics and identify areas whose change can prolong my life.

Reference

Ling, C., & Rönn, T. (2019). Epigenetics in human obesity and type 2 diabetes. Cell Metabolism, 29(5), 1028-1044.

Next-generation sequencing (NGS) is a term used to define or describe new sequencing methods that allow for faster, cheaper and convenient RNA and DNA sequencing. It has continued to transform the study of molecular biology and genomics. Despite being a young development or field, NGS has become critical and useful in a number of analyses involving RNA and DNA sequencing within the past decade.

The power of modern machines and innovation is making it possible for researchers and scientists to sequence millions of DNA and RNA molecules instantly. The current trend is that many professionals and scholars are relying on NGS to pursue additional medical studies, monitor the development of genetic diseases and conduct clinical diagnostics. This practice has become possible since NGS supports the sequencing of several samples within the same period.

The major technologies in this field include pyrosequencing, sequencing by litigation, ion semiconductor sequencing and sequencing by synthesis (Akkari, Smith, Westfall, & Lupo, 2019). Researchers are also considering new ideas and advancements to take this process to the next level. This paper gives a detailed discussion of the mechanism of NGS and latest researches in the field.

Mechanism

Massive parallel sequencing or NGS is a field that developed within the past two decades. Adamo et al. (2018) indicate that the earliest platforms for NGS became available between 1994 and 1998. Within a period of seven years, such technologies had been commercialised in different parts of the world. Many experts believe that this kind of innovation is going to advance in the future and continue to meet the increasing demands for DNA analysis and sequencing.

Several steps are considered when conducting this kind of sequencing. Firstly, clonal amplification is done to generate the required DNA libraries. This is usually conducted through PCR in vitro (Akkari, Smith, Westfall, & Lupo, 2019). Secondly, nucleotides are added to the sequenced DNA using a process known as synthesis (Adamo et al., 2018). Thirdly, the amplified and spatially segregated DNA strands are sequenced in a massive or large-scale fashion.

This means that physical separation is unnecessary or unneeded. Although each available NGS might have a unique strategy, it tends to follow these key processes or procedures. The materials required for DNA sequencing include blood and other body samples, including hair and dead tissues. Adequate quantities should be collected and used for the NGS process in an attempt to deliver positive results.

Latest Case Study and Research

Cancer has become a major health challenge affecting many experts in the field of medicine and patients. With the advancement of NGS, researchers in this area have been keen to adopt its use for detecting and analysing a wide range of mutations in human cells. This technology has been found effective in studying loss-of-function and activation mutations in different gene targets. The use of NGS has made it possible for analysts to make informed decisions, guide therapy and empower clinicians to provide timely decisions to their respective patients. When professionals rely on personalised medicine, it becomes possible to get additional information regarding a specific cancer patient’s genome and every available variant (Adamo et al., 2018).

This means that the use of NGS will continue to make it possible for researchers to sequence different mutant cells and understand how such diseases develop. The practice will also become a new opportunity for understanding the development mechanisms of the affected cells and illnesses (Alekseyev et al., 2018). The information will also empower those in the pharmaceutical business to develop superior drugs and therapies for treating various cancers. The end result is that more people will record positive health outcomes and eventually realise their potential.

A great scientist by the name William Daniel Hillis once said this: Your genome knows more about your medical history than you do (“W. Daniel Hillis Quotes,” n.d.). This quote supports the role and importance of NGS in sequencing DNA and presenting evidence-based ideas uncovering more about the development of diseases, both communicable and hereditary. This knowledge or understanding has continued to guide and encourage more scientists and researchers to focus on NGS to transform the quality of medical services available to different patients.

The research article, “Implementation of Cancer Next-Generation Sequencing Testing in a Community Hospital” reveals that the adoption and use of NGS is going to make it possible for human beings to integrate the collected data from the sequenced DNA strands to uncover new ideas and apply them to advance the field of medicine. The information will support the needs of different players in this industry and eventually ensure that more citizens receive high-quality medical services (Akkari, Smith, Westfall, & Lupo, 2019). This research is essential since it gives additional thoughts regarding the acceptability of NGS and how it will promote new studies aimed at maximising the health outcomes of more people.

Advantages of NGS

Since it is a young field, NGS presents several advantages that make it useful and applicable in a wide range of settings. The first advantage is that it has an increased level of throughput when it comes to sample multiplexing. The second one is that it empowers researchers and scientists to sequence millions of gene regions or genes within the same time (Akkari et al., 2019). The third strength associated with NGS is that it is a fast process that is appropriate for large samples. The fourth one is that it has a high sensitivity, thereby being able to detect low-frequency samples or variants. Finally, it has been found to offer a comprehensive coverage for genomes.

Disadvantages of NGS

There are specific disadvantages associated with this kind of platform or technology. Firstly, the concept behind NGS is capable of undermining people’s autonomy and rights. This is the case since the process might present unethical questions, such as paternity disputes and hereditary diseases. This means that different stakeholders should collaborate and present superior policies to overcome this bottleneck. Secondly, the price for getting DNA analysis results is quite high. This is true since the machines tend to be expensive and unaffordable to many health facilities (Akkari et al., 2019). Thirdly, the question of safety arises when individuals are relying on the power of NGS. This means that someone can present wrong samples, thereby affecting the physical or health security of the targeted individual.

Conclusion

The above discussion has identified NGS as a modern technology for sequencing DNA and RNA. It has become useful in different fields, such as medicine, molecular biology and genetics. Current studies are focusing on the best strategies to ensure that most of the problems many people face are addressed. Despite the outlined disadvantages, the future of this field seems to be bright and capable of guiding different individuals to learn more about their genes and address most of the diseases affecting humanity today.

References

Adamo, J. E., Bienvenu, R. V., Fields, F. O., & Ghosh, S. (2018). The integration of emerging omics approaches to advance precision medicine: How can regulatory science help? Journal of Clinical and Translational Science, 2(5), 295-300. Web.

Akkari, Y., Smith, T., Westfall, J., & Lupo, S. (2019). Implementation of cancer next-generation sequencing testing in a community hospital. Cold Spring Harbor Molecular Case Studies, 5, a00370. Web.

Alekseyev, Y. O., Fazeli, R., Yang, S., Basran, R., Maher, T., Miller, N. S., & Remick, D. (2018). A next-generation sequencing primer–How does it work and what can it do? Academic Pathology, 5, 1-11. Web.

W. Daniel Hillis Quotes. (n.d.). Web.

CRISPR/Cas9 is a new technology for editing the genomes of higher organisms based on the immune system of bacteria. The basis of this system is special sections of bacterial DNA, short palindromic cluster repeats, or CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats). Between identical repeats, DNA fragments are distinguished from each other – spacers, many of which correspond to parts of the genomes of viruses that parasitize this bacterium.

When a virus enters a bacterial cell, it is detected using specialized Cas proteins (CRISPR-associated sequence) associated with CRISPR RNA. If a virus fragment is recorded in the CRISPR RNA spacer, Cas proteins cut viral DNA and destroy it, protecting the cell from infection. At the beginning of 2013, several groups of scientists showed that CRISPR/Cas systems could work not only in bacterial cells but also in cells of higher organisms, which means that CRISPR / Cas systems make it possible to correct incorrect gene sequences and thus treat human hereditary diseases.

Biochemistry of CRISPR/Cas9

In order to fix the problems or “wrong” gene, a very precise molecular scalpel is needed that can find the mutant nucleotide sequence and can cut it out of DNA. Cas9 is such a scalpel, and with the help of the RNA guide, the series of which coincides with the desired location, it can introduce a gap in the desired area of the genome. Recognition of the target occurs on a site with a length of 20-30 nucleotides (Katz & Pitts, 2017).

On average, sequences of this length are found in the human genome once, which allows for accuracy. A cell will not die from a DNA break since it will be corrected by a healthy copy from a paired chromosome due to the natural process of DNA repair. If there is no paired chromosome, as in the case of hemophilia, a portion of the correct gene can be added to the cell simultaneously with Cas9 and the RNA guide and use as a matrix to heal the introduced gap.

Using CRISPR/Cas9, a researcher can do multiplex editing of several incorrect genes at once. In order to do this, one must enter the Cas9 protein and several different RNA guides. Each of them will direct Cas9 to its own target, and together they will eliminate the genetic problem. In general, the described mechanism functions due to the principle of complementarity of double-stranded DNA (Chapman, Gillum, & Kiani, 2017).

DNA double helix chains recognize each other according to the rules of complementarity. CRISPR RNA identifies its targets in double-stranded DNA in the same way, thus forming an unusual structure containing a double-stranded region of mutually complementary RNAs and one of the target DNA strands, and the other DNA strand will be extruded.

Impact and Implication

First of all, with the help of CRISPR/Cas9, people will be able to treat simple, monogenic genetic diseases such as hemophilia, cystic fibrosis, and leukemia. In these cases, it is clear what needs to be edited, but there are diseases with high heritability, the genetic nature of which is very complex. Such disorders are a complex result of the interaction of different genes and their variants. For example, many scientists are looking for genes for schizophrenia and alcoholism; every year, they find new ones, every year, a part of previously discovered genes has nothing to do with it (Wade, 2015). How to treat such complex diseases with CRISPR/Cas9 is not clear, and multiplex approaches will be required.

It is important to understand that the practical application of CRISPR/Cas9 in medicine is rather a distant future, and it will take a lot of work, improving the technology, reliability, and safety. In general, the situation with blood diseases is better since the damaged gene is needed only for hematopoiesis, and cell therapy technologies of such illnesses are well developed. For instance, if a person has leukemia and in order to eliminate the disease, he or she will be irradiated, then they will find a suitable donor and transplant the bone marrow (Katz & Pitts, 2017). It’s a long time to look for a donor, but there is never a complete immunological match.

Using the CRISPR/Cas9 system, people can obtain a patient’s bone marrow sample and heal his or her hematopoietic stem cells by changing the wrong letter. Then the patient will have to be irradiated to kill the affected hematopoietic cells and introduce his or her edited cells back – not the ones of the next of kin or a stranger, but precisely his, which are fully compatible. They will begin to divide and produce healthy blood cells.

In regards to editing, for example, a liver tumor, everything is much more complicated (Chapman et al., 2017). It will be necessary to solve the main medical problem: the problem of delivering components of the CRISPR/Cas9 system to the affected cells. In 2015, Chinese scientists attempted to correct the genome of a human embryo (Katz & Pitts, 2017). They took a fertilized human egg with a spoiled gene leading to beta-thalassemia blood disease.

Cas9 protein and an RNA guide were introduced into the cell, which was supposed to find and cut the wrong copy of the gene, followed by repair using a healthy matrix. As a result of the experiment, in 5-10% of embryos, the mutation responsible for the occurrence of the disease in adults was indeed corrected (Katz & Pitts, 2017). However, the bad news was that in all cells of the treated embryos, there were a large number of mutations that did not appear at all where it was supposed to.

Thus, the technology needs to be improved because it is not accurate enough. Exact editing is obtained when a portion of the target DNA with a length of a little more than 20 nucleotides complementary interacts with a completely corresponding RNA guide (Wade, 2015). Unfortunately, a large number of variants of the target sequence can exist in the genome, differing from it by only one letter or two, and so on. Each of these variant targets interacts worse than a perfectly suitable target. However, since there are many such sequences, it is complicated to avoid incorrect recognition. Scientists need to improve the specificity of the Cas9 protein and choose guides very carefully.

Conclusion

In conclusion, today, CRISPR is one of the most popular technologies, and many young people, students, are dreaming about working with CRISPRs. Now, these studies are becoming generally technological, and fundamental questions are few. A section of genomic DNA at the level of a defective gene and restoration of the edited DNA region of homologous recombination by several orders of magnitude. At the same time, there is another system of DNA damage repair in the cells, called the non-homologous connection of the ends, when the integrity of the DNA is restored without completion due to the lack of a matrix.

However, the CRISPR/Cas9 editing system is currently imperfect, because as a result of its work, for several reasons, there is the possibility of incorrect PHK binding and the appearance of so-called non-targeted effects, resulting in random DNA cuts and, as a result, insertions and deletions. How to minimize the latter and increase the likelihood of homologous recombination are tasks that many laboratories are trying to solve.

References

Chapman, J. E., Gillum, D., & Kiani, S. (2017). Approaches to reduce CRISPR off-target effects for safer genome editing. Applied Biosafety, 22(1), 7-13.

Katz, G., & Pitts, P. J. (2017). Implications of CRISPR-based germline engineering for cancer survivors. Therapeutic Innovation & Regulatory Science, 51(6), 672-682.

Wade, M. (2015). High-throughput silencing using the CRISPR-Cas9 system: A review of the benefits and challenges. Journal of Biomolecular Screening, 20(8), 1027-1039.

Introduction

Mutations are alterations in the DNA sequence that are a significant source of variation across species. These alterations occur at various levels and can have substantially disparate implications (Stenson et al., 2017). In living organisms susceptible to multiplication, people must first determine if they are genetically determined; specifically, specific mutations impact just the person that carries them, whereas others influence all of the carrier object’s children and successors; this work is written to analyze genetic mutations.

Main body

A genetic mutation can have a significant impact, but strategy implementation is predicated on the aggregation of numerous tiny changes in many situations. Mutational consequences might be helpful, detrimental, or neutral based on the circumstances or place. The majority of non-neutral mutations are harmful. In general, the more nucleotide sequences that are impacted by a change, the more significant the impact of the conversion and the greater the likelihood that the mutation would be harmful.

Noonan syndrome is a hereditary condition that hinders proper growth in several body components. Noonan syndrome can influence an individual in a variety of ways. These include uncommon facial features, small height, heart disorders, other physical issues, and potential impaired cognitive development. Noonan disease is caused by genetic mutations and is hereditary when a child inherits a copy of a genetic disorder from one of their parents (Allanson & Roberts, 2021). It can also arise due to a genetic abnormality, which means there is no previous history implicated.

The common symptoms of Noonan syndrome vary considerably between different and can range from moderate to severe. Attributes might be linked to the specific gene that contains the mutation. One of the primary clinical symptoms that leads to the diagnosis of Noonan syndrome is facial appearance. These characteristics may be more prominent in newborns and early children, but they alter with age. These distinguishing characteristics become more subtle as one grows older. Many patients with Noonan syndrome are conceived with some sort of heart malfunction, which accounts for some of the disorder’s most severe symptoms and signs; however, specific heart issues can develop early in adulthood.

Noonan syndrome can interfere with average growth; many individuals with Noonan syndrome do not develop at a standard rate. Most persons with Noonan syndrome have average intelligence. Ocular and eyelids deformities are common symptoms of Noonan syndrome. Due to nerve difficulties or anatomical anomalies in the central auditory structures, Noonan syndrome can cause hearing problems. Due to clotting abnormalities or a lack of platelets, Noonan syndrome can result in excessive hemorrhage and scarring. Noonan syndrome can disrupt the respiratory system, which removes excess waste from the body and aids in the battle against infection. Many persons with Noonan syndrome, particularly men, might have genital and renal difficulties.

Summary

To summarize, mutations are changes in the DNA sequence that are a considerable source of diversity among species. A mutated gene can have a significant influence, but in many cases, strategy execution is based on the accumulation of many minor alterations. Noonan syndrome is a genetic disorder that interferes with healthy development in various physical components. The common symptoms of Noonan syndrome vary significantly between individuals and can take a variety of forms. Attributes might be connected to the particular gene containing the abnormality. The look of the face is one of the pivotal clinical signs that contribute to the identification of Noonan syndrome.

References

Allanson, J. E., & Roberts, A. E. (2021). Noonan syndrome. Cassidy and Allanson’s Management of Genetic Syndromes, 651-669.

Stenson, P. D., Mort, M., Ball, E. V., Evans, K., Hayden, M., Heywood, S., & Cooper, D. N. (2017). The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis, and next-generation sequencing studies. Human genetics, 136(6), 665-677.

Screening is a medical diagnostic technology for a continuous non-selective laboratory examination of all newborns for certain metabolic diseases, designed to ensure the timely detection and initiation of treatment for sick children in order to prevent their disability. The main goal of neonatal screening is to prevent the development of the disease and thereby save the life of the born baby. Hence, the desire of specialists to cover as many inherited diseases as possible with such technology is understandable. It allows parents to identify congenital metabolic disorders in the first weeks of the baby’s life. Such screening is carried out using a blood test or tandem mass spectrometry, which makes it possible to test a child for a host of genetic diseases, including critical congenital heart disease, sickle cell disease, cystic fibrosis, phenylketonuria, and hearing loss (“Newborn metabolic screening,” 2020).

The technique of blood sampling for advanced screening is no different from the procedure for a routine study. Advanced neonatal screening reveals a change in the concentration of metabolites in one direction or another, that is, an increased or decreased content of these substances may indicate the presence of a genetic disease (de Castro, Filippon, Souza, & Weber, 2016). As with mandatory screening, in case of serious abnormalities, the doctor sends the baby to specialized specialists to conduct additional studies and develop a treatment regimen if the diagnosis is confirmed.

Genetic screening of newborns is especially necessary if there have been cases of hereditary diseases in the family, albeit in the distant past. Quite often, healthy parents still carry defective genes and can pass them on to offspring. However, even if no one in the family suffered from genetic diseases, it is still worthwhile to do such an expanded screening of newborns, since the child still has the risk of these pathologies. In Maryland, the screening targets identifying disorders, such as inability to break down breast milk sugar and proteins, congenital hypothyroidism, cystic fibrosis, spinal muscular atrophy, and Fabry disease (“Newborn metabolic screening,” 2020). The goal of these tests is to identify the problems and help to prevent the complications associated with these disorders. Overall, the current Maryland testing guidelines are adequate because they encompass a wide range of key health issues among newborns.

References

de Castro, S. M., Filippon, L., Souza, A. C., & Weber, R. (2016). Evaluation of the genetic screening processor for the performance of newborn screening tests. Journal of Inborn Errors of Metabolism and Screening, 4(1), 1-5.

Newborn metabolic screening. (2020). Web.