Genetics (Summer 2024)

Writing Assignment #1: Article Types

              Primary articles often come in the form of archives, manuscripts, books, or even handwritten notebooks. All of these forms though, have a requirement to be the original testimony to a topic. Addressing primary research articles, they report findings found in its own research. Primary research can be peer reviewed but never is a review of another primary source.

              On the other hand, a review article is written to review and analyze an existing research article or findings. It is never the carrier of new information from a study, but rather a description of the understanding of a certain topic. Typically. review articles are less objective than a primary article.

              To provide contrast between a peer review and a review article, a peer review article is to validate a primary article and is not an article of its own. So, peer reviews cannot be a review article, but a review article can be peer reviewed. Empirical studies, review articles, and meta-analyses can be peer reviewed with discussion by others in the same disciplined, checked for major and minor issues within the article, and essentially cleans up the work.

              The review article is the one titled, “Rapid and Sensitive Detection of SARS-CoV-2 Using Clustered Regularly Interspaced Short Palindromic Repeats,”. This is true because it cites the primary article titled, “Development of clustered regularly interspaced short palindromic repeats/CRISPR-associated technology for potential clinical applications,” in its side bar. The primary article has its findings and data within the text, while the review article is much less objective and is working to determine the effectiveness of CRISPR.

Writing Assignment #2: Primary Article Citation

Cheng M, Ge X, Zhong C, Fu R, Ning K, Xu S. Micro-coevolution of host genetics with gut microbiome in three Chinese ethnic groups. J Genet Genomics. 2021 Nov 20;48(11):972-983. doi: 10.1016/j.jgg.2021.09.002. (2021)

Writing Assignment #3: Summary on a Genetics Related Primary Article

The primary article, “Micro-coevolution of host genetics with gut microbiome in three Chinese ethnic groups,” explores the relationship between host genetics and the human gut microbiome by analyzing data from 190 students from three ethnic groups: Uyghur, Kazakh, and Han Chinese. It finds that gut microbiome differences are more pronounced between genetically distinct ethnic groups with significant correlations found between host genetic variants and specific gut microbial species. For instance, the species Bacteroides ovatus is linked to the genetic variant rs12899811, which influences the expression of the tumor suppressor VPS33B in the colon. This research enhances understanding of the co-evolution of the gut microbiome and genetics amongst a group of three different Chinese ethnic groups.

            Methods and materials used to in this study started with sample collection, in which genetic and gut microbiome data were collected from a pool of 190 students from Uyghur, Kazakh, and Han Chinese. From that pool of data, an analysis was made using principal component analysis (PCA) and an ADMIXTURE analysis to examine the genetic relationships and admixture patterns amongst their test subjects. Taxonomic and functional composition, enterotype stratification, and microbiome genetic differentiation was then assessed. To find the correlations between genetic variants and microbial species, Pearson-Spearman correlation tests, Kruskal-Wallis tests, and Mantel tests were employed. Finally, in order to quantify the results of the previous tests for microbiome diversity, Bray-Curtis dissimilarity, Jensen-Shannon divergence, and UniFrac distances were conducted.

Significant correlations were observed between specific host genetic variants and the abundance of certain gut microbial species. For example, Bacteroides ovatus was significantly correlated with the host genetic variant rs12899811, which influences the expression of the tumor suppressor VPS33B in the colon, which suggests that the interactions between gut microbiome species and host genetic variants can impact specific human phenotypes, such as intestinal immunity and colorectal cancer. Genetic profiles were distinct favoring the Han Chinese group, whilst the Kazakh and Uyghur had much more complex admixtures. This suggests that genetically similar individuals tended to have more similar microbiomes.

Overall, the research underscores the intricate relationship between host genetics and the gut microbiome, providing insights into how genetic variation influences microbiome composition and function. These findings have implications for understanding the co-evolution of humans and their microbiomes and for developing personalized medical approaches based on genetic and microbiome profiles, a key factor in shaping gut microbiome diversity. Traits like immunity and disease susceptibility are affected by interactions between gut microbiome species and host genetic variants, contributing to phenotypic diversity. Furthermore, this study inspires the exploration of mechanism underlying genetic microbiome interactions and their effects on health, and the growth of personalized medicine based on an individual’s microbiome composition.

Writing Assignment #4: Summary of Genetics-Related Article Found in the Popular Press

Kendric Cromer, a 12-year-old with sickle cell disease, became the first person to start a commercially approved gene therapy, aiming for a cure. Sickle cell disease is a genetic disorder causing severe pain and other health issues, affecting about 100,000 people in the U.S., mostly Black individuals. The FDA recently approved gene therapy treatments by Bluebird Bio and Vertex Pharmaceuticals. Kendric’s treatment, covered by his family’s health insurance, began at Children’s National Hospital in Washington.

Kendric’s parents, Deborah and Keith Cromer, discovered their son would have sickle cell disease during pregnancy but chose to proceed, despite a one-in-four chance. Kendric’s first severe pain crisis occurred at age 3, leading to multiple hospitalizations and continuous pain. He developed avascular necrosis in his hips, back, and shoulders, requiring daily medication. The constant pain limited Kendric’s activities, making him increasingly sedentary, though he maintained an A average in school. His parents hoped for gene therapy but were initially disheartened by the high cost.

Now, with Kendric undergoing treatment, they hope for a future where he can lead a normal life free from pain crises. Bluebird Bio’s gene therapy, Lyfgenia, costs $3.1 million, one of the highest prices for any medical treatment. Despite the cost, there are waiting lists of patients seeking relief from the debilitating effects of sickle cell disease. At Children’s National, about 20 patients are eligible, with priority given to the sickest and those with approved insurance, in which Kendric met both criteria, thus being selected to be the first to receive Lyfgenia.

Plerixafor, the drug used by his doctors, first releases Kendric’s bone marrow stem cells into his bloodstream, which were collected using an apheresis machine. The collected cells will be sent to Bluebird Bio’s lab, where a healthy hemoglobin gene will be added, correcting the mutated cells causing sickle cell disease. The modified cells will return in three months, with the goal of producing normal red blood cells that do not cause blockages in Kendric’s own bloodstream. With these efforts, Children’s National Hospital can only take ten gene therapy patients annually.

This article is closely related to genetics as it discusses a groundbreaking gene therapy for sickle cell disease, a genetic disorder caused by inheriting mutated hemoglobin genes from both parents. The therapy involves modifying the patient’s genetic material to correct the mutation, with Kendric Cromer being the first to receive it. It highlights the use of CRISPR technology for precise gene editing and explains the autosomal recessive inheritance pattern of the disease. Additionally, it underscores the importance of genetic testing and counseling for early diagnosis and intervention in genetic disorders in modern medicine.

Finding articles to support this New York Times article was not hard, as it is recent that the development of gene therapy for sickle-cell disease was groundbreaking for modern medicine in 2023. As stated in the article written in the New York Times, the article referenced, Revolutionizing Healthcare: Breakthroughs in Gene and Cell Therapy Products in 2023 confirm that Bluebird Bio Inc. is the group to create Lyfgenia as a blood treatment from stem cells in bone marrow. It is specific to this article that it is acknowledged that the first patient was 12 years old, parallel to 12 year old Kendric from the New York Times article.

DNA Replication:

Gene Expression:

Personal Statement:

I didn’t have a childhood. Yes, I was granted some respite with a couple of Barbie dolls and had playdates when I had the time, but that was a rarity in sunny California for me at six years old. Independency is something I had to learn early. With that, I was forced to do my own research and reach for resources to help me learn about myself and my own body. Taking my own experiences and stories from others, I realized that women’s health was not prioritized in society, and even taboo. This conclusion led to my passion for women’s health and wellness and aspirations to become a gynecologist.

English wasn’t my second language, but my third. I juggled between speaking Spanish at my Spanish speaking preschool, Vietnamese at home, and English in all the other white spaces. Living with my grandparents, I was often the designated translator at their doctor’s visits. My passion for gynecology is also deeply rooted in a commitment to addressing healthcare disparities. I am acutely aware of the inequalities that exist in healthcare access and quality, particularly for marginalized communities. I never once want a patient to feel as unwelcomed as my grandparents did walking into the doctor’s office, knowing they were already struggling with their finances as is, but once your health is in question, no other problems exists but your well-being.

As a gynecologist, I am determined to advocate for and provide high-quality care to all women, regardless of their background or socioeconomic status. I believe that every woman deserves access to empathetic, respectful, and evidence-based healthcare, and I am committed to being a part of the solution. When I got my first urinary tract infection (UTI), I felt shame. Opening my “discrete” medication bottle from the pharmacy, I had to put into question on why I would ever feel guilt for something that is a common occurrence for women. It was an unwavering sense that I was “dirty” or wasn’t taking as good enough care of myself to prevent such a normal experience. At the time, I couldn’t even understand why I had a UTI. Years later, I realize that I was simply uninformed and became diligent in aiding my own family about their bodies. Before I knew it, I was the person to come to if my younger sister or cousin was confused on what was happening with the very bodies they possessed.

Volunteering at the HER shelter for six years now, I find that it is not only my family affected by the ineffectiveness of the health care system. I’ve met dozens of women that didn’t fully understand their own reproductive system, and in turn felt shame for having to take extra care for their own body. Not only at the HER shelter did I hear many women’s problems, but my experiences in the Army brought me clarity on how women’s needs are not met in the military. Bringing me to tears, all I can think about is how much women the problem of being misinformed has affected.

Furthermore, I am driven by a strong sense of empathy and a genuine desire to make a positive impact on my patients’ lives. I understand the deeply personal nature of gynecological care and am dedicated to fostering a safe, trusting, and non-judgmental environment for my future patients. My own compassion for women and willingness to defend the health for all has shot me forward into wanting to pursue gynecology.