Incurable Diseases 1

Running Head: INCURABLE DISEASES

Incurable Diseases:

An Analysis on Incurable Disease Research Trends

Elyse Mehigan

Glen Allen High School

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Introduction

Since the genesis of modern medicine, research has been the driving force behind all

discoveries, advancements, and setbacks. The current American populations donates large sums

of money to institutions and organizations that fund research; however, people are paying less

attention towards they type of research they donate to. The perception that research is an overly

complex topic only understood by a medical professional is untrue and it is important for

donators to make efforts to understand medical trends, and differentiate old methods of research

from newer, more effective techniques. In this process, donors may need to determine what the

current trends are across cellular disease research, and what do those trends say about the future

of medical research.

Precision Medicine

Precision medicine is a method of research that focuses on “prevention and treatment

strategies that take individual variability into account,” which has already been used for years in

methods such as blood typing (Collins). However, it first began being mentioned in 1999 in

American Medical Journals (Daniel). Despite the United States and western countries being

founded off of individualism, medicine has not become an individualized practice. Rather,

medicine is standardized and past treatments have been created with the purpose of serving the

overall population that needs the treatment. While this community based model of treatments has

been able to serve large groups of people, it has left the individual without a tailored treatment

plan specific to their case and needs.

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In 2015, President Obama begin a new initiative to launch precision medicine into more

widespread practice (Collins). The goal of the initiative was to hopefully come closer to finding

cures and treatments for diseases such as cancer and diabetes through precision medicine. In the

short-term, the initiative focused on cancer, specifically precision oncology, which has made

many breakthroughs in recent years, but needs more support and creative ingenuity to progress

further. Because cancers are the most common form of incurable diseases, and are the leading

cause of worldwide death, it is a useful disease to focus on. Cancers are developed not only

through wear and tear of DNA, but more importantly through genetic variations. Precision

oncology is taking a closer look at these variations to better “risk assessment, diagnostic

categories, and therapeutic strategies” (Collins).

In the long-term, precision medicine is looking to apply what was learned through

precision oncology to a larger scale of health and disease medicine. By doing so, patients will be

more able to access personalized treatments and engage in their treatments more easily because

precision medicine is creating regulatory frameworks to incorporate patients who desire to be

active in their treatment/research (Collins). Additionally, there is a long-term goal of increasing

personalized medicine in pharmacogenetics, which is field focusing on using patient’s genetic

makeup to direct treatments. Specifically, the Dx-Rx paradigm is a current program being

developed that will help specify precision writing for patients (Daniels)

Despite most of the benefit of precision medicine being long-term, there have already

been a variety of breakthroughs precision medicine in recent years. The largest discoveries

surrounding precision medicine have been single nucleotide polymorphism (SNPs) genotyping

and microarray or biochips (Daniel). SNPs are able to “link patient susceptibility to disease

processes and drug therapy responsiveness” and separate patients into clinical trials suited to
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their conditions (Dantiels). This new field is revolutionizing the medical field and creating an

environment more suited for patients.

Genomic Research

In 2003, on April 14, the National Human Genome Research Institute made its official

announcement that they had successfully completed the Human Genome Project, which was a

project to determine the sequence of nucleotide base pairs that build the entirety of human DNA

(The Human Genome). By completing this project, researchers are better able to understand the

building blocks of humans, and how the genes and proteins in the body function together to

create outcomes. This was especially important for medical researchers as the human genome is

critical to the understanding of specific diseases and how they grow and develop (What was the

Human Genome). Much about the human genome is still unknown; however, the current

discoveries made about it have been monumental for the understanding of how diseases should

be treated.

By studying cancer genomes, scientists have been able to determine how gene

abnormalities cause the development and growth of certain cancers. Researchers then use this

information to develop new treatments and diagnoses that have specific targets rather than

prescribing standardized medication that won’t be as effective for certain patients. A prominent

example of a specified treatment is the drug Vemurafenib (Zelboraf), which was developed in

2011 and approved by the FDA to treat melanoma patients with a mutation on the BRAF gene.

Additionally, scientists have developed specific treatments by looking at genetic similarities in

tumors of patients with breast, bladder, pancreatic, and ovarian cancer (Cancer Genomics

Research).
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Another large field of genome mapping is through Alzheimer’s disease. The Tau gene is

the hallmark protein of Alzheimer’s disease, and is thought to play a larger role in the

development of Alzheimer's than previously expected. By analyzing genetic data of Alzheimer’s

patients, the National Institute of Health in conjunction with the National Institute on Aging has

been able to find five new risk genes and confirm twenty other risk gene for the disease. These

findings will help identify genes with “cell trafficking, lipid transport, inflammation and the

immune response,” which are critical parts of Alzheimer’s development, and will assist scientists

in their research processes (Balintfy).

Studying the Alzheimer’s genome is so important for research that the International

Genomics of Alzheimer’s Project (IGAP was developed) in 2011 with the goal of understanding

the genomics and inheritance behind the disease . They additionally hope to create a “shared

resource database that includes genetic data” from over 40,000 Alzheimer’s patients

(International Genomics).

Genome mapping creates a gateway for scientists into the specific causes and

development of cancers, and allows for targeted therapies to be created from those findings.

Even though the full human genome has been mapped, specific genes are not identified with

their function, and uncovering their purpose opens a variety of opportunities for treatment

development.

Conclusion

Precision medicine and genomic mapping are some of the few specific types of research

revolutionizing the medical field and creating better outcomes that other methods ever had

before. Donors should be dedicating their money towards research institutions following these
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practices as they are producing some of the newest, most innovative discoveries that are helping

to treat patients around the world.

Works Cited

Balintfy, J. (2019, February 28). Data sharing uncovers five new risk genes for Alzheimer’s

Disease. National Institute on Aging. Received from https://www.nia.nih.gov/news

/datasharing-uncovers-five-new-risk-genes-alzheimers-disease

Beck, S., & Paul, D. S. (2014, October 1). Advances in epigenome-wide association studies for

common diseases. Spotlight, 20(10), 541-543. Retrieved from https://www.cell.com

/action/showPdf?pii=S1471-4914%2814%2900115-4

Cancer Genomics Research. (2018, November 20). National Cancer Institute. Retrieved from

https://www.cancer.gov/research/areas/genomics

Collins, F. S., & Varmus, H. (2015, February 26). A New Initiative on Precision Medicine. The

New England Journal of Medicine. Retrieved by https://www.nejm.org/doi/full/10.1056

/NEJMp1500523

Current News Releases. (2018, September 24). National Human Genome Research Institute.

Retrieved from https://www.genome.gov/10000475/current-news-releases/

Guhr et al. (2018, July 19). Recent Trends in Research with Human Pluripotent Stem Cells:

Impact of Research and Use of Cell lines in Experimental Research and Clinical Trials.

Stem Cell Reports, 11(2), 485-496. Retrieved from https://www.ncbi.nlm.nih.gov/pmc

/articles/PMC6092712/
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Rizzi, L., Rosset, I., & Roriz-Cruz, M. (2014, June 25). Global Epidemiology of Dementia:

Alzheimer’s and Vascular Types. BioMed Research International, 2014, 8. Retrieved

from https://www.hindawi.com/journals/bmri/2014/908915/cta/

Rohrid et al. (2009, April 10). Types of Study in Medical Research. National Institute of

Medicine. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689572/

Schattner, E. (2017, December 31). 7 Key Cancer Trends for 2018. Forbes. Retrieved from

https://www.forbes.com/sites/elaineschattner/2017/12/31/7-key-cancer-trends-for

2018/#b213a662d0e7

What are the next steps in genomic research?. (2019, March 19). U.S. National Library of

Medicine. Retrieved from https://ghr.nlm.nih.gov/primer/genomicresearch/nextsteps