Assignment 1 – Personal Statement

Captivated by the fascinating blend of science and empathy, my venture into the world of medicine has always been all about weaving together knowledge and compassion. I have always been driven by a strong commitment to make a real impact in the lives of those who could use a helping hand. My interest in helping those in need started from a very young age, as I was always the little girl who read the labels on all the medicine bottle, which my mother initially thought meant I would become a lawyer due to my meticulous attention to detail in fine print. However, a pivotal moment came early on in my childhood, and was what really ignited the passion of wanting to save lives. When I was 5 years old, I witnessed my neighbor be shot right in front of my eyes on the porch I played on regularly. I remember feeling frozen in the moment, yet also acutely aware of the gravity of what had just unfolded in front of me. I immediately ran next door after it was safe to inform my father of what had happened, and he called 911 for help. I had no idea what to do and felt a sense of hopelessness because it was in my nature to always help people, and there was nothing I could do but stand back while we waited for the paramedics to come rushing down the street. That was the moment I knew in my heart I never wanted to feel like I didn’t do everything I could possibly do, and so I entered upon my journey into discovering the world of medicine. I have kept my passion and continued to pursue my goal ever since. 

I grew up in a small-town area of southern Maryland called Solomons Island, where the desire to pursue a career far past high school was uncommon. However, I aspired to do more and already knew I wanted to pursue a higher education, such as one day going to medical school. I explored many different pathways for myself in order to reach my goal, and that started with enrolling at the Academy of Health Professions at the Career and Technology Academy my junior year of high school. This school was the place where I had the greatest opportunity to shine and further explore the many different avenues that the field of medicine had to offer. By the end of my senior year, I was able to accomplish becoming a certified nursing assistant, geriatric nursing assistant, and a certified clinical medical assistant. However, I did not find the interest and joy I had been searching for in any of these career choices, but they did at least offer me the opportunity to begin working in healthcare and gaining valuable experiences. Finally, the career choice I found that piqued my utmost interest in the field of medicine was a career in surgery. During my senior year at the academy, I was able to sit in on an open-heart CABG procedure (Coronary Artery Bypass Graft procedure), and I was immediately taken back in amazement by the complexity of the procedure, the way everything was so meticulously planned, and the confidence in the surgeon and her team, just as if it was another day doing her normal routine. 

Moving further on into college, I decided that even though I did not need to pick a science major to advance on into medical school post-grad, I chose biology as my major because I sincerely enjoyed learning more about all aspects of biological science and doing research. I did have some difficulty focusing on school at the beginning, as I had just moved to a different state where I didn’t know a soul and had trouble making friends. I joined the sorority Alpha Phi for about 2 years, and while I enjoyed my time being a part of it, I had already made all the friends I needed and wished to focus solely more on academic pursuits. Ultimately, I ended up joining a few new groups on campus, such as the Pre-Health Club, the American Association of Women at Old Dominion University, the Fellowship of Women in Science, and The Society of Future Medical Professionals. Through these experiences, I was able to gain far more opportunities being a part of the health care industry, while also being able to volunteer and serve the needs of my community, which I wholeheartedly appreciated being a part of. It has taken me a lot longer than anticipated to finish my undergraduate degree due to additionally working full time as a scribe at a chiropractic office, but I will be finally completing my degree in the next year. I recently got engaged over the summer in 2023, and plan to get married after graduation in spring 2025, then take a gap year to travel before starting medical school at EVMS and eventually advance onto a neurosurgical residency and live my dream.

Assignment 2 – Defining & Identifying Primary/Review Articles & Describing the Peer Review Process

Primary articles serve as an excellent foundational firsthand source of information or research that is widely used in the scientific community, as well as the nonscientific community. To define a primary article, this type of article as previously said is a firsthand source, and in the context of academic research, is a publication of new research findings that are written by authors who completed the research, experiments, and analysis themselves. Additionally, the authors publishing the research are typically experts in the field of their research, provide in great detail their methods, results, and conclusions to their research, and are published in a peer-reviewed journal. The purpose of primary articles is to present new credible discoveries, notions, or theories in order to contribute to the advancement of current knowledge in their field.

            While review articles differ from primary articles in several ways, they are still a highly valuable source of information. Review articles can be defined as a comprehensive summary of existing research with a specific area of academic concentration, rather than presenting new findings such as primary articles. Additionally, most research articles do often reference the findings and methodologies of many different primary articles written on the subject of interest. Review articles essentially serve the purpose of pinpointing gaps in knowledge that pertain to the research subject, as well contributing to the advancement of research by proposing potential avenues for further consideration that may be researched in the future. Lastly, review articles are also written by experts in the subject of interest and are typically published in an academic journal, but these articles do not always undergo the same peer-review process as primary articles.

            The peer review process for articles, such as primary articles, is a rigorous evaluation that is overseen by the experts in field from the academic journal publishing the research. The purpose of this process is to review the research articles methodology, relevance, significance, and clarity in order to ensure the quality, credibility, and ethicality of the research that is being submitted. Before a primary article can be published in a review article, researchers must re-evaluate and assess their research report for weaknesses based upon the constructive feedback and recommendations that are given by the editors of said academic journal. Researchers may have to resubmit research reports several times, and editors will choose to make an informed decision as to whether or not to accept or reject the research article for publication.             

Of the two articles provided, the article titled Rapid and Sensitive Detection of SARS-CoV-2 Using Clustered Regularly Interspaced Short Palindromic Repeats is a primary article. This article can be identified as a primary article by observing the structural features of the article, such as the listed materials and methods, results, and conclusion of the research experiment performed by the authors of the article. Additionally, this article is written by experts in the subject, as well as being a firsthand source of new information on the subject matter that is published in the peer reviewed journal, “Biomedicines”. The article titled Development of clustered regularly interspaced short palindromic repeats/CRISPR-associated technology for potential clinical applications is a review article. This article can be identified as a review article due to the lack of firsthand information by the author of the article, as well as there not being any experiment performed. This article is rather a comprehensive synopsis of research experiments that have been previously concluded by other experts in the field.

Assignment 3 – Primary Article Citation

Charache, S. et al. Effect of Hydroxyurea on the Frequency of Painful Crises in Sickle Cell Anemia. New England Journal of Medicine; https://www.nejm.org/doi/10.1056/NEJM199505183322001?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200www.ncbi.nlm.nih.gov(1995).

Assignment 4 – Primary Genetics Article Review

The article, “Effect of Hydroxyurea on the Frequency of Painful Crises in Sickle Cell Anemia” is a primary article published in The New England Journal of Medicine. A primary article is defined by being a firsthand source completed by expert researchers, of which completed the experiments and analysis themselves, and is published in a peer-reviewed journal. This article was written by expert researchers from multiple centers of study, but primarily from authors at the John’s Hopkins University School of Medicine, the Maryland Medical Research Institute in Baltimore, and the National Heart, Lung, and Blood Institute in Bethesda. This article concludes their research into multiple subsections to describe how the research was completed, such as an abstract, introduction, methods, results, discussion, and conclusion, which is typically displayed in primary articles. The journal that the primary article is published in, The New England Journal of Medicine, is a widely renowned peer-reviewed journal known for its meticulous review process for peer-reviewing articles submitted to them for publication. This article is related to genetics due to the basis of study being a possible treatment option that is being researched for is viability in treating sickle cell anemia, a genetic disorder that is caused by a mutation in the HBB gene.

The objective of this research was stated in the background section of the abstract, which stated that the researchers were investigating the anti-sickling effects that hydroxyurea possesses in order to reduce how frequently painful crises occur due to the pathophysiological effects of sickle cell anemia. Sickle cell anemia is a debilitatingly painful disease, this is attributed to the sickled cells causing blockages in blood vessels, which is brought on due to their abnormal shape which is inadequate for red blood cells to travel through the blood stream. The study was conducted on 32 patients diagnosed with sickle cell anemia, of which also presented with fetal-hemoglobin synthesis. The use of hydroxyurea for sickle cell anemia patients in this clinical trial was conducted over a 24-month treatment period at 21 different sites by a combination of experimental methods, such as randomized, double-blind, and placebo-controlled in order to properly test the efficacy of the treatment. The most notable findings of the clinical trial indicated that there was a significant reduction in the occurrence of painful crises in the test subjects undergoing hydroxyurea treatment. Additionally, it was also found that within the first eight weeks of the study, fetal hemoglobin levels showed an increase. Lastly, there were no morbidities associated with the use of hydroxyurea in this clinical trial. These results suggested that the use of hydroxyurea is a viable treatment option and holds great promise for the improvement of sickle cell anemia pain management and in diminishing the burdens associated with painful crises in those that are affected by the disease. In conclusion, this discovery offered valuable insights to the medical community about the efficacy of hydroxyurea in treating sickle cell anemia, as well laying the groundwork for further exploration toward the development and innovation of other treatments to improve quality of life.

References:

1. Charache, S. et al. Effect of Hydroxyurea on the Frequency of Painful Crises in Sickle Cell Anemia. New England Journal of Medicine; https://www.nejm.org/doi/10.1056/NEJM199505183322001?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200www.ncbi.nlm.nih.gov (1995).

Writing Assignment 5 (Summary of a Genetics-Related Article):

            Labradors have long been loved by humans for their friendly demeanor and loyal companionship, but these beloved animals face a growing health crisis: obesity. Many Labrador owners find themselves perplexed as they watch their beloved companions steadily pack on weight, despite conscientiously providing regular exercise and adhering to recommended feeding guidelines tailored to their pet’s size. Despite their best efforts, obesity still creeps in, leaving owners questioning the mystery behind their Labradors’ expanding waistline. Some research has begun to investigate this concerning trend, and researchers have uncovered fascinating insights into the underlying genetic causes contributing to why so many Labradors struggle with weight gain. 

According to a study reported by U.S. News & World Report, Labradors have a genetic predisposition to obesity due to a mutation in a gene called POMC. The mutation in the POMC gene disrupts the normal function of the gene, leading to increased appetite and a reduced feeling of fullness after eating. Additionally, the gene also causes these dogs to burn fewer calories than those without the mutation. Furthermore, the study highlights environmental factors such as diet and exercise that interact with genetic predisposition to exacerbate obesity in Labradors. High calorie diets and sedentary lifestyles only further compound the genetic susceptibility to obesity in these dogs, due to Labradors with this condition burning approximately 25% less energy than those without the genetic mutation (Thompson, 2024). However, the other unfortunate effect of this mutation also causes these dogs to have insufficient production of two important hormones for determining hunger and decrease energy usage, the beta-melanocyte stimulating hormone and beta-endorphin. The findings emphasize the importance of understanding both genetic and environmental factors in managing obesity in Labradors. By recognizing these influences, interventions for weight gain prevention can be tailored to address the specific needs of Labradors and mitigate their risk of obesity. 

Research findings recently reported by the University of Cambridge regarding the POMC mutation strongly reinforce the credibility of the article published by the U.S. News & World report. The study’s revelation that a quarter of all Labradors possessing this mutation underscores the genetic basis behind the breed’s susceptibility to obesity, as is outlined in the previous article. This genetic predisposition, as interpreted by the University of Cambridges’ research, directly aligns with the genetic factors discussed and highlight the role of the POMC gene mutation in disrupting normal appetite regulation in Labradors. By confirming these genetic insights, the University of Cambridge study adds substantial weight to the credibility of the article published by the U.S. News & World Reports’ claims regarding the genetic components regarding obesity in Labradors. Overall, research on the POMC mutation brings notice to the complex exchange between genetics and environment in shaping the health outcomes of Labradors, providing valuable insights for pet owners and veterinarians in combating obesity in this breed. 

References:

1. Thompson, D. (2024, March 7). Many labradors become obese and research shows why. U.S. News & World Report. https://www.usnews.com/news/health-news/articles/2024-03-07/many-labradors-become-obese-and-research-shows-why 

2. University of Cambridge. Genetic mutation in a quarter of all labradors hard-wires them for obesity.  University of Cambridge; https://www.cam.ac.uk/research/news/genetic-mutation-in-a-quarter-of-all-labradors-hard-wires-them-for-obesity# (2024). 

Lac Operon Assignment:

Genome Assignment:

Chromosome Maps:

1. Chromosome 14
2. Contains approximately 1,200 genes.
3. Contains >100,000,000 base pairs.
4. PS1 (AD3) is located on chromosome 14.
5. The function of the PS1 (AD3) gene is significantly important in the role of processing the protein APP (amyloid precursor protein) which is responsible for regulating amyloid beta protein accumulation, as well as lipid metabolism (National Institute of Health, 2024).

Introduction to Nucleotide BLAST:

6. Homo sapiens CFTR (CFTR) gene, partial cds.

7. The protein encoded in this gene is responsible for functioning as a chloride channel in order to control ion and water secretions, as well as absorption in epithelial tissues.

8. Cystic fibrosis

9. Chromosome 7

10. Pongo abelii

11. Sumatran orangutan

12. No it does not surprise me because humans are closely related to most primates.

13. Species with 98% similarity in identity:

a. Sapajus apella

b. Tufted capuchin

c. Yes, 1/119

14. A gap in sequence alignments is essentially consecutive insertions or deletions of nucleotides in a gene sequence (Barton et al., 2015).

15. Tardbp; this gene encodes for the TAR DNA binding protein. This protein is responsible for many things, including positively regulating protein import into the nucleus, regulation of circadian rhythm, and in the regulating how stable proteins are. 

16. UBQLN2 (ubiquilin 2); this gene encodes for ubiquilin which is responsible for regulating cell survival in the event of starvation.

17. FUS; this gene encodes for the FUS RNA binding protein. This protein is responsible for many types of regulation, such as gene expression, gene integrity, and the processing of mRNA/microRNA. 

18. SOD1; this gene encodes for the superoxide dismutase 1 protein. This protein is responsible for be ridding of radicals in the body and acts as an antioxidant.

19. Diseases associated with #’s 15-18:

a. #15 is associated with amyotrophic lateral sclerosis type 10 (common name is ALS, or more commonly known as Lou Gehrig’s disease).

b. #16 is associated with amyotrophic lateral sclerosis type 15 (common name is ALS, or more commonly known as Lou Gehrig’s disease).

c. #17 is associated with amyotrophic lateral sclerosis type 6 (common name is ALS, or more commonly known as Lou Gehrig’s disease).

d. #18 is associated with amyotrophic lateral sclerosis type 6 (otherwise known as ALS, or more commonly known as Lou Gehrig’s disease).

20. GENBANK is a type of scientific database that is used for the purpose of finding/locating specific nucleotide sequences of genes that are published in the database (Clark, 2015).

Introduction to Protein BLAST:

21. cDNA is what is known as complementary DNA; this type of DNA is actually synthetic and contains only coding sequences.

22. 2E1DYZB016; the first sequence match is of beta-globin in Homo sapiens.

23. Yes, there is a gap present between amino acid sequences.

24. The gap is present between amino acids at query 361.

25. No, there are no gaps in the sequence alignment at all.

26. The gene that encodes for the polypeptide of person 1 is FGFR3 which is associated with fibroblast growth factor receptor 3.

27. The function of this protein is to influence bone development and maintain bone integrity.

28. A mutation in the FGFR3 gene is likely to cause craniosynostosis (congenital defect involving early-onset bone development in a baby’s skull) (Centers for Disease Control and Prevention, 2023) and many varieties of skeletal dysplasia.

29. NIH, NLM, NCBI, and HHS are all scientific databases that are all overseen by the U.S. government:

a. NIH (National Institute of Health)

b. NLM (National Library of Medicine)

c. NCBI (National Center for Biotechnology)

d. HHS (U.S. Department of Health and Human Services)

30. One positive thing that I learned from this assignment is how to locate what/how many different genes are responsible for certain diseases using the BLAST database, and one negative thing that I encountered doing this assignment was how long it took the BLAST database pages to load. 

References:

1. Barton, C., Flouri, T., Iliopoulos, C. S., & Pissis, S. P. (2015, March 17). Global and local sequence alignment with a bounded number of gaps. Theoretical Computer Science. https://www.sciencedirect.com/science/article/pii/S0304397515002200#:~:text=A%20gap%20in%20an%20alignment,applications%20to%20compare%20biological%20sequences. 
2. Centers for Disease Control and Prevention. (2023, June 28). Facts about craniosynostosis. https://www.cdc.gov/ncbddd/birthdefects/craniosynostosis.html#:~:text=What%20is%20Craniosynostosis%3F,skull%20can%20become%20more%20misshapen. 
3. Clark, K., Karsch-Mizrachi, I., Lipman, D. J., Ostell, J., & Sayers, E. W. (2015, November 20). GenBank. OUP Academic. https://academic.oup.com/nar/article/44/D1/D67/2503088
4. National Human Genome Research Institute. (2024, April 19). CDNA (copy DNA): Nhgri. Genome.gov. https://www.genome.gov/genetics-glossary/Copy-DNA 

5. National Institute of Health. (2024, April 16). PSEN1 presenilin 1 [Homo Sapiens (human)] – gene – NCBI. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gene/5663#:~:text=%5Breview%5D%20PS1%20has%20been%20found,(APP)%20and%20lipid%20metabolism.