dna essay competition

Realizing the benefits of human genetics and genomics research for people everywhere.

2023 DNA Day Essay Contest: Full Essays

1 st  Place : Jennifer Zhong, Grade 12 Teacher:  Ms. Maria Zeitlin School:  Smithtown High School East Location:  Saint James, New York

“One humanity, many genomes” captures the essence of the human species. While we are all united under a shared genetic structure, our remarkably diverse genomes greatly impact our lives, allowing us to become phenotypically different as well as have different predispositions to disease. Genetically, all humans are approximately 99.9% the same. However, that small 0.1% difference in genome makes each of us so uniquely individual [4].

Human genetic variation can occur in many different ways. One of the most common are single nucleotide polymorphisms (SNPs), variations in DNA sequences that involve a change in only a single nucleotide [7]. With approximately 11 million SNPs in the human genome, over 7 million occur with a minor allele frequency, a percentage based on the occurrence in a population of the second most common allele, of more than 5% [5]. SNPs can cause great changes to our overall genetic makeup with approximately 1 nucleotide change occurring for every 400 [7]. Additionally, copy number variants (CNVs), alterations in wider DNA regions, can change genes both at DNA transcription levels and through the translation of RNA, allowing for more diverse phenotypes. However, these genomic changes may cause simple monogenic diseases and contribute to polygenic diseases [7].

Human genetic information can also be encoded by epigenetic changes to chromatin structure such as DNA methylation, changes to proteins that bind DNA together, and modification of molecules that affect chromatin [2, 3]. In order to understand how human genetic variation contributes to phenotype, it is necessary to consider geneenvironment interactions that also regulate gene expression. For example, folate deficiency has been shown to affect placental development and DNA methylation in the fetus leading to growth deficits and neural tube defects cementing the importance of prenatal nutrition [2]. Epigenetics has also been linked to microRNAs, non-coding RNA molecules that are involved in gene expression regulation, which have been expressed in certain cancers [2].

In recent years, well over 3000 genome-wide association studies (GWAS) have been published. This has widened the understanding of the human genome leading to new insight into the genetic etiology of complex diseases. By combining genetic and phenotypic data with gene-based designer drug availability, diseases can be more easily predicted [1, 9]. GWAS has helped identify approximately 10,000 strong associations between genes and complex traits which helps to explain the role of certain genes as well as environmental factors which can aid in risk prediction and personalized medicine, a field in which therapeutics are specifically targeted toward an individual’s genomic needs [8, 10]. By estimating the effects of SNPs at many different loci, a polygenic risk score can be formulated to make disease predictions [10]. This has allowed for the discovery of more than 100 risk loci for schizophrenia, autism, and other conditions where the DRD2 locus has been shown to contain genes relevant to the etiology of schizophrenia [10]. Hundreds of additional genomic areas have been statistically associated with complex traits which have increased the knowledge of molecular mechanisms and pathways associated with diseases [5]. Specifically, in order to further understand cardiovascular disease, it is crucial to correlate symptoms and phenotypes that are important indicators such as heart failure, myocardial infarction, and stroke with specific genetic variations [7].

To translate genomic knowledge from GWAS to future research and treatment, it is important to identify shared genetic variants that are deleterious [7]. Currently, due to increases in genomic research, many therapeutic targets have been identified and associated with cardiovascular disease [6]. Pharmaceuticals including Warfarin, a common anticoagulant, and Statin, a preventative medication, have been closely associated with certain genes to better prescribe medications and dosages catered to an individual’s genome [8]. Nucleic acid-based therapies have also been widely developed. Patients who received the siRNA drug Inclisiran were found to have lower low-density lipoprotein cholesterol (LDL-C) levels by targeting PCSK9, a gene important for bloodstream cholesterol levels, indicating that these treatments have been highly effective [6]. In addition, genomic studies have allowed for the development of other RNA-targeted therapies, microRNA and epigenetic therapy, and genome editing with CRISPR which hold the potential to further advance personalized medicine [6].

As human genomic research continues, advances in understanding genomes have allowed us to research disease pathologies and develop better treatments. Although humans have many genomic differences, we are all united to further our understanding of how these differences can impact our lives. By learning more about genetic variation and epigenetics, we can advance personalized healthcare and medicine for people across the world.

Citations/References

• Ahmed, Zeeshan, et al. “Human Gene and Disease Associations for Clinical-Genomics and Precision Medicine Research” Clinical and Translational Medicine 10 (2020): 297-318.
• Barros, S. P. and Offenbacher, S. “Epigenetics: Connecting Environment and Genotype to Phenotype and Disease” J Dent Res 88(5) (2009): 400-408
• Cavalli, Giacomo and Heard, Edith “Advances in Epigenetics Links Genetics to the Environment and Disease” Nature 571 (2019): 489-499.
• Collins, F. S. and Mansoura, M. K. “The Human Genome Project: Revealing the Shared Inheritance of all Humankind” Cancer 91 (2001): 221-225.
• Frazer, Kelly A., et al. “Human Genetic Variation and its Contribution to Complex Traits” Nature Reviews Genetics 10 (2009): 241-251.
• Landmesser, Ulf, et al. “From Traditional Pharmacological Towards Nucleic Acid-based Therapies for Cardiovascular Diseases” European Heart Journal 41 (2020): 3884-3899.
• Pollex, Rebecca L. and Hegele, Robert A. “Copy Number Variation in the Human Genome and its Implications for Cardiovascular Disease” Comtemporary Reviews in Cardiovascular Medicine 115(24) (2007): 3130-3138.
• Sheikhy, Ali, et al. “Personalized Medicine in Cardiovascular Disease: Review of Literature” Journal of Diabetes and Metabolic Disorders 20(2) (2021): 1793-1805.
• Tam, Vivian, et al. “Benefits and Limitations of Genome-Wide Association Studies” Nature Reviews Genetics 20 (2019): 467-484.
• Visscher, Peter M., et al. “10 Years of GWAS Discovery: Biology, Function and Translation: The American Journal of Human Genetics 101 (2017): 5-22.

2 nd  Place:  Bolin Miao, Grade 10 Teacher:  Ms. Mary Frances Hanover School:  Dana Hall School Location:  Wellesley, Massachusetts

Between 200,000 and 60,000 years ago, humans dispersed from Africa to the rest of the world (1). Adapting to various environments, human genomes, the complete set of genetic instructions that make us who we are, have been shaped over time by a complex interplay of biological and environmental factors. In a study of 929 genomes from 54 geographically diverse human populations, 67.3 million single-nucleotide polymorphisms (SNPs) , 8.8 million small insertions or deletions (indels), and 40,736 copy number variants (CNVs) were identified (2). Compared to the 3 billion nucleotides present in the human genome, these variations are only a few. Statistically, due to common ancestry, only 0.1% of DNA varies between individuals (3). However, these differences, which arise from mutations over the course of human evolution, contribute to our distinct individual features and lineage.

Certain genomic variations became prevalent in particular populations due to the evolutionary advantage they offered. In regions of Africa where malaria was common, the sickle hemoglobin mutation became widely present, as people with sickle cell anemia are more likely to survive and reproduce. People living in high altitudes – Tibetans, along with Andeans and Ethiopians – have been found to possess the HIF2A gene and PHD2 gene, which orchestrates the transcriptional response to hypoxia (4). Skin color is another typical example: lighter complexion facilitates the production of more vitamin D, which prevents diseases like rickets in climates further away from the sun; by contrast, pigments in the skin can protect the skin from sun damage and skin cancer in areas exposed to sunshine (5). Considering this, race has no biological basis and its role as a justification for persecution and discrimination is flawed (1). In parts of the Middle East and Europe where animal husbandry is developed, changes in the lactase gene (LCT) allow people to continue producing lactase after entering adulthood, enabling them to drink milk without diarrhea and flatulence, which many East Asians experience (6). These changes in genomes were passed down through generations, contributing to distinct genomes in different regions.

Besides passive environmental selection, individual habits, including nutrient intake and exercise, also make our genome unique by altering gene expression through epigenetics. A recent analysis showed that endurance exercise training can lead to differentially expressed genes by regulating transcription factors, resulting in the transcriptional activation of specific genes related to phenotypic changes, including body weight loss and aerobic capacity increase (7). A mother’s diet can also shape the epigenome of the offspring: diets with different methyl dosages during pregnancy can lead to distinct DNA methylation in the fetus’s genome (8). Due to the uniqueness of personal habits, our epigenomes are also special.

The benefit of understanding our genome is immense. Genomes influence our appearance, susceptibility to disease, metabolism of drugs, and even our cognitive abilities (9). Through addressing these differences, we can explore the full potential of genomics since everyone can benefit from it. Prior research about the human genome was mainly based on European lineage, and it appears limited as people start to recognize the importance of human genome diversity in understanding ourselves. Scientists thus carried out various projects, including the Human Genome Diversity Program (HGDP), the 1000 Genomes Project, and the HapMap Project. Genome-Wide Association Studies (GWAS) relate genomes to disease susceptibility, which enables us to predict individual disease risk (10). These personal identifications of susceptibility could be expected to result in the uptake of more effective monitoring and preventive actions, decreasing the chance of illness. Moreover, the booming industry of precision medicine is made possible by the understanding of our genome and offers innovative, targeted solutions for disease treatment. Clinicians already started using whole-genome analysis to identify causative genes for rare diseases and to determine the most appropriate treatment approaches for some cancers (11). In the future, tailoring medications with people’s genomes will revolutionize the healthcare industry by replacing conventional symptomatic treatment (12). In addition to medical treatments, genomics has large-scale applicability to other areas, including but not limited to ancestry testing and personalizing healthy diets.

It is crucial for people to keep the idea of “One Humanity, Different Genomes” in mind. Our differences are derived from common humanity and should serve the development of the whole. This idea is a call to celebrate our commonalities as human beings while also embracing our differences. Genomic studies should bring us closer, allowing us to pay more attention to every member of the community and commit to our common future.

• Hunter, Philip. “The Genetics of Human Migrations.” National Library of Medicine, EMBO reports, 15 Oct. 2014, www.ncbi.nlm.nih.gov/pmc/articles/PMC4253842/. Accessed 3 Mar. 2023.
• Bergstrom, Anderson, et al. “Insights into Human Genetic Variation and Population History from 929 Diverse Genomes.” Science, vol. 367, no. 6484, 20 Mar. 2020. PubMed, https://doi.org/10.1126/science.aay5012. Accessed 5 Mar. 2023.
• Jorde, Lynn B., and Stephen P. Wooding. “Genetic Variation, Classification and ‘race.'” PubMed, Nov. 2004, pubmed.ncbi.nlm.nih.gov/15508000/. Accessed 5 Mar. 2023.
• Bigham, Abigail W., and Frank S. Lee. “Human High-altitude Adaptation: Forward Genetics Meets the HIF Pathway.” Genes Dev. Pubmed, https://doi.org/10.1101/gad.250167.114.
• Feng, Yuanqing, et al. “Evolutionary Genetics of Skin Pigmentation in African Populations.” Human Molecular Genetics, vol. 30, no. R1, 1 Mar. 2021. Oxford Academic, https://doi.org/10.1093/hmg/ddab007.
• Ruiz, Augusto Anguita, et al. “Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies.” Nutrients. Pubmed, https://doi.org/10.3390/nu12092689.
• Smith, Gregory R. “Multiomic Identification of Key Transcriptional Regulatory Programs during Endurance Exercise Training.” Pubmed, 12 Jan. 2023, pubmed.ncbi.nlm.nih.gov/36711841/.
• Randunu, Raniru S., and Robert F. Bertolo. “The Effects of Maternal and Postnatal Dietary Methyl Nutrients on Epigenetic Changes That Lead to Non-Communicable Diseases in Adulthood.” Int J Mol Sci., May 2020. Pubmed, https://doi.org/10.3390/ijms21093290.
• “Human Genome Resources at NCBI.” U.S. National Library of Medicine, www.ncbi.nlm.nih.gov/projects/genome/guide/human/index.shtml.
• Rotimi, Charles N., and Adebowale A. Adeyemo. “From One Human Genome to a Complex Tapestry of Ancestry.” Nature, Feb. 2021. Pubmed, https://doi.org/10.1038/d41586-021-00237-2.
• Yamamoto, Yuichi, et al. “Current Status, Issues and Future Prospects of Personalized Medicine for Each Disease.” J Pers Med, Mar. 2022. Pubmed, https://doi.org/10.3390/jpm12030444.
• Ahmed, Zeeshan, et al. “Human Gene and Disease Associations for Clinical‐Genomics and Precision Medicine Research.” Clin Transl Med., winter 2020. Pubmed, https://doi.org/10.1002/ctm2.28.

3 rd  Place:  Olivia Park, Grade 12 Teacher:  Ms. Cindy Law School:  William Lyon Mackenzie C.I. Location:  Toronto, Canada

Have you ever stopped to consider just how unique your genetic makeup is? While we may share a genome that is 99.9% identical at base-pair, that 0.1% holds a vast array of differences that make each of us truly one of a kind (National Human Genome Research Institute, 2018). From our unique physical and biological traits, our genomes are a complex tapestry that plays a crucial role in determining who we are. This highlights the significance of the theme “One Humanity, Many Genomes.” Additionally, this essay will explore traits that make our genomes unique and explain how further advances in understanding our genomes will impact our lives in current and future research in medical treatments.

The first trait that determines the uniqueness of our genomes is single nucleotide polymorphisms (SNPs). SNPs are the most common type of genetic variation among people and occur when another nucleotide in the DNA sequence replaces a single nucleotide. These variations happen within coding and non-coding regions of our DNA, resulting in gene expressions and functions being affected. Studies have shown that SNPs impact our susceptibility to diseases, response to drugs, and physical traits. This is evident in the ongoing research of identifying SNPs association with medical conditions such as heart diseases (National Library of Medicine, 2022).

The second trait that determines the uniqueness of our genomes is copy number variations (CNVs). CNVs have a varying number of specific segment DNA copies among individuals’ genomes and these variations can involve a deletion or duplication of genetic material that can differ from hundreds to millions of base pairs. They play a crucial role in the uniqueness of our genomes because they contribute to variations in gene expression, which in turn influence our traits and predispositions to certain diseases and are associated with several genetic disorders, including autism, schizophrenia, and intellectual disabilities (National Human Genome Research Institute, 2023). For instance, a deletion of a segment of DNA containing the lactase gene leads to lactose intolerance. In contrast, duplications of the amylase gene that produce more amylase enzymes increase the ability to digest starchy foods (Gao et al., 2017).

The profound impact of understanding our genomes can be observed in various aspects of our lives, one of the most significant advances being the development of personalized medicine. Since personalized medicine is the process of tailoring medical treatment to suit an individual’s genetic information, it leads to greater health outcomes with reduced side effects. As an example, genetic research on the CYP2C19 gene metabolizes certain medications after analyzing specific SNPs: allowing physicians to determine the most effective treatment for individuals (Lee, 2012). Cancer research has also been influenced by an advanced understanding of genome sequences. Cancer is a disease caused by genetic mutations, and understanding these mutations is essential for developing personalized treatments that target specific genetic mutations that have been identified from genome sequencing (National Cancer Institute, 2021). For example, drugs like Herceptin and Gleevec target specific genetic mutations found in certain types of breast and blood cancer, resulting in improved survival rates (National Cancer Institute, 2018). A final example of an area where understanding our genomes has had a significant impact is in the field of genetic testing. Genetic testing involves analyzing an individual’s DNA to identify genetic variations that may be associated with certain diseases or conditions. Furthermore, this information can help individuals make informed decisions about their health. For example, if there is a family history of breast cancer, an individual may choose to undergo genetic testing to determine if they have inherited the mutation that increases their risk of developing breast cancer. With the given information, the individual can proceed to take the measures they see fit to reduce the risk of developing breast cancer (Centers for Disease Control and Prevention, 2022).

Overall, “One Humanity, Many Genomes” emphasizes the diversity and uniqueness of our genetic information. Traits such as SNP and CNV are used to convey the immense difference 0.1% has on our genomes and how it is reflected in our physical traits, gene structure, and gene regulation. Furthermore, an advanced understanding of our genomes has the potential to help improve health outcomes and effective medical treatments while highlighting the importance of continuous research on the human genome.

Centers for Disease Control and Prevention. (2022, June 24). Genetic Testing | CDC. Genomics & Precision Health. Retrieved February 24, 2023, from https://www.cdc.gov/genomics/gtesting/genetic_testing.htm

Gao, Y., Jiang, J., Yang, S., Hou, Y., Liu, G. E., Zhang, S., Zhang, Q., & Sun, D. (2017, March 29). CNV discovery for milk composition traits in dairy cattle using whole genome resequencing – BMC Genomics. BMC Genomics. Retrieved February 24, 2023, from https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-017-3636-3

Lee, J. (2012, December 20). Clinical Application of CYP2C19 Pharmacogenetics Toward More Personalized Medicine. Frontiers. Retrieved February 24, 2023, from https://www.frontiersin.org/articles/10.3389/fgene.2012.00318/full

National Cancer Institute. (2018, April 11). How Gleevec Transformed Leukemia Treatment – NCI. National Cancer Institute. Retrieved February 24, 2023, from https://www.cancer.gov/research/progress/discovery/gleevec

National Cancer Institute. (2021, October 11). What Is Cancer? – NCI. National Cancer Institute. Retrieved February 24, 2023, from https://www.cancer.gov/about-cancer/understanding/what-is-cancer

National Human Genome Research Institute. (2018, April 6). Human Genomic Variation. National Human Genome Research Institute. Retrieved February 24, 2023, from https://www.genome.gov/dna-day/15-ways/human-genomicvariation

National Human Genome Research Institute. (2023, February 23). Copy Number Variation (CNV). National Human Genome Research Institute. Retrieved February 24, 2023, from https://www.genome.gov/genetics-glossary/CopyNumber-Variation

National Library of Medicine. (2022, March 22). What are single nucleotide polymorphisms (SNPs)? MedlinePlus. Retrieved February 24, 2023, from https://medlineplus.gov/genetics/understanding/genomicresearch/snp/

Log in to the ASHG Portal to submit or view your submission. 

Welcome to the 2021 DNA Day Essay Contest submission site!

The deadline to submit all essays is Wednesday, March 3, 2021 at 5:00 pm U.S. Eastern Time .

Questions?  [email protected]

Submit Essay  

To submit your essay(s), you will need to create an ASHG account.  This is not a membership account and does not require payment. 

Submission Instructions

• If you have submitted an essay in 2019 or 2020, please use these instructions
• If you have NOT  submitted an essay in 2019 or 2020, please use these instructions  
• Review a blank submission form to prepare your submission

What You Need to Know

• The contest is open to high school students (grades 9-12) in the U.S. and internationally
• Essays must be in English and no more than 750 words. Word count includes in-text citations, but not reference lists.
• Essays must include at least one reference. 

For more information about the ASHG DNA Day Essay Contest, visit the contest homepage . 

Welcome to the ESHG DNA Day Essay & Video Contest

A yearly contest for high school students

Welcome to all students, teachers and genetics colleagues!

What is the DNA DAY Contest?

The structure of the DNA double helix was unraveled seventy years ago. DNA Day, April 25 , is commemorated internationally as a celebration of Genetics and its promises. For the 15th year, the European Society of Human Genetics (ESHG), will be sponsoring a DNA Day Essay and Video contest in high schools all over the world.

The essay and video contest is meant as a learning tool and a searches to promote knowledge of genetics within Europe. It intends to challenge students to examine, question and reflect on the importance and social implications of genetic research and its applications. Essays are expected to contain substantive, well-reasoned arguments indicative of a depth of understanding of the issues addressed by the selected essay question.

What’s the 2024 topic?

Given the growing impact of Artificial Intelligence on our lives, the ESHG has decided to make A.I. part of the contest instead of banning it. this year’s question is:

Ask an Artificial Intelligence chat of your choice to write a 350 word essay on the topic: “Is the human Y-chromosome vanishing in the future?”

• In a 750 word essay of your own, OR
• In a short video (max. 5 min) of your own,

discuss the result and its consequences, should the public believe the content of the A.I. essay was actually true.

First Place Winner: EUR 400 In addition, sponsoring teachers of 1st place students will receive EUR 1,000 to organise a science project.

Second Place Winner: EUR 300 In addition, sponsoring teachers of 2nd place students will receive EUR 800 to organise a science project.

Third Place Winner: EUR 200 In addition, sponsoring teachers of 3rd place students will receive EUR 500 to organise a science project.

All participants will receive a certificate of appreciation for their participation in the contest.

Important Dates

September: Submissions opens

April 25: Deadline for the submission to the European Society of Human Genetics

April 25: DNA DAY

April 25 – June 10: An international jury of scientists are judging the submissions

Mid June: Essay contest winners will be announced to the public

Statistics since the beginning of the DNA Day Essay Contest in 2009 (videos were started in 2018):

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Log in to the ASHG Portal to submit or view your submission. 

Accessing your Round 2 essays:

Log in to the ASHG portal through the button on the left side of the screen labeled "Login with ASHG". Your username is the email address associated with your membership

Select "My Reviewing Assignments" from the table on the left side of the screen

• Please read through each essay assigned to you and score them based on the provided rubric - you can find the rubric attached to each of your assigned essays

The goal of Round 2 is to identify the essays which should advance to Round 3 and potentially be awarded a winner or honorable mention prize. Your selection of essays was randomly assigned, and all essays were vetted for quality in Round 1.

Round 2 judging ends on  Friday, March 31 at 11:59 pm U.S. Eastern Time .

If you cannot remember your username or password, please contact [email protected] .

Essay Question:

In 2023, The American Society of Human Genetics celebrates its 75th anniversary! We want to kick off the festivities with you, the next generation of human geneticists. The theme of our celebrations is “One Humanity, Many Genomes.” In your essay, explain what “one humanity, many genomes” means to you. Please be sure to include:

• Two examples of what makes our genomes unique
• How advances in understanding our genomes impact our lives, such as current and future research into medical treatments.

If you have any questions, please contact  [email protected] .