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ARJUN PATEL

ANTHROPOLOGY ANALYST

The Human Genome and the Possibility of Curing Rare Diseases

The Human Genome and the Possibility of Curing Rare Diseases

12/2/24, 10:00 PM

Imagine a future where we could edit out genes and help eliminate rare diseases so that life is more manageable for the next generation. Given our capacity to learn about the science of evolution, let's harness that knowledge and improve mankind.

Imagining a future where we could edit out genes and select specific traits for the next generation is a topic that is filled with hot button issues and much controversy. However, there is a common ground where science can meet legislation and help strengthen our greater humanity. Imagine a future where we could edit out genes and help eliminate rare diseases so that life is more manageable for the next generation. Given our capacity to learn about the science of evolution, let's harness that knowledge and improve mankind. With tools like CRISPR, we’re getting closer to making these things possible, and it’s all happening so fast that many of us are just beginning to understand what it could mean. Wearing my scientist hat, I'm just beginning to dig into learning about the promises and the risks of genetic technology, especially when it comes to deciding how we use these advances.  In December 2023, the FDA approved a revolutionary drug to treat sickle-cell disease, using CRISPR Cas-9, which is a buzzing topic among the scientific community as a game-changing tool. My generation will play a big part in deciding how we use these advancements, so it’s important to think about the questions they raise.


Bioethics is a field that looks at the moral and ethical issues surrounding life sciences and medicine. When it comes to the human genome, bioethics helps us think about questions like: Should we edit genes to prevent diseases? Who should have access to our genetic information? And should there be limits on how we can use genetic editing technologies?


One of the biggest breakthroughs in gene editing is a tool called CRISPR, which lets scientists make edits to DNA. The idea of fixing or even removing genes linked to diseases is exciting because it could mean less suffering in the future. But, it also raises some difficult questions. Could people start using this technology to select for traits unrelated to health, like intelligence or physical appearance? Many bioethicists are concerned that gene editing could lead to a new form of trait selection, where certain traits are favored over others, potentially dividing society in new ways.


From an anthropological perspective, humans have always evolved slowly, adapting to our environments over thousands of years. Changes like increased brain size, reduced jaw strength, or even resistance to certain diseases happened gradually as our ancestors faced challenges in their environments. Natural selection ensured that the traits that helped people survive were passed down, creating the genetic diversity we see today. But with gene editing, we’re introducing the ability to change traits in just one generation, which is a huge shift from how evolution has always worked.


Gene editing could have major evolutionary implications. For example, if we start choosing traits for intelligence, appearance, or strength, we could reduce genetic diversity, which is actually crucial for a species’ long-term survival. We know that diversity helps populations adapt to new environments and resist diseases. But if we narrow our gene pool by editing out traits that don’t seem “desirable” now, we might be limiting our species’ ability to survive future challenges.


These changes aren’t just physical; they could also change the way we view ourselves and each other. What happens to our understanding of humanity if certain traits are considered “better” or “worse” based on a gene-editing standard? These are deep questions that force us to consider how genetic technology could impact not only our lives but our evolution as a species.


I think about these possibilities in the context of my own family. I’ve seen family members go through difficult health issues and have spent time in hospitals, so I understand how medical advancements can change lives. Seeing how treatments have helped my family live better lives makes me realize the positive impact genetic technology could have in preventing disease. The chance to make life easier and healthier for future generations sounds amazing, despite the risks we need to think about.


Rather than thinking about the pressure to alter genes for things like appearance or intelligence, shouldn't we also consider that changes we have made to our environment and planet, such as ease of access to processed food, which may have in turn, caused many undesirable and life dihabilitating disesases, such as cancer.  It’s clear to me that we’re entering a future where understanding bioethics and humanity is going to be essential. Our generation will have to face the ethical questions around genetic technology and decide how the choices we make could impact not only individuals but society as a whole, and even the way our species evolves. 


The potential of gene editing is both exciting and a little scary. It could improve health and prevent suffering, but it also challenges us to think about the kind of future we want to create. Learning about bioethics and the human genome makes me realize that we’re at a crossroads, and it’s up to us—our legislature, our research, and our generation to make choices that protect people and create a thriving human society. 


I know that I want to live in a world where we make sure we use gene editing tools to help improve the lives of others and I am cheering on the new drugs that the FDA approved for the treatment of sickle-cell disease.  I think the CRISPR technology has the potential to advance treatment options for many rare diseases and improve lives across the globe.  Please check out my research article titled: "Advancing VLCAD Treatment: The Future Role of Targeted CRISPR-Cas9 Therapy."


UPDATE:  My research article was published in Issue 47 February 2025 Part 2 of the Curieux Academic Journal (page 202): 

https://www.curieuxacademicjournal.com/fall-winter2024

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