Week-36

Writing/STEM Principles/Biology!

Hello People of the Earthhhhh!!!! Welcome to the safe haven known as Faces of Silicon Valley! *cue loud cheering heard in the background 

This month’s post explores a topic that affects millions of people worldwide, and it's often in ways we don’t immediately see. Genetics sits at the intersection of science, identity, and lived experience, and today’s article takes a closer look at how tiny changes in DNA can have life-altering effects.

Before diving into the article; you know what's going to happen--here are a few updates from Faces of Silicon Valley!

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1) Spotlight on Science Writing
Faces of Silicon Valley is continuing to expand its focus on science communication—breaking down complex topics in ways that are accessible, thoughtful, and grounded in real-world impact. Posts like this one are part of that effort.

2) Research + Humanity
Upcoming articles will continue blending scientific explanation with human stories, ethics, and lived experience. If there’s a science topic you’ve always been curious about but found intimidating, this space is for you.

3) Reader Voices Matter
As always, reader feedback helps shape future content. If you’d like to see more biology, medicine, or genetics-related posts, let me know in the comments! Whether it's the face that less than 1% of our DNA differs between any two humans, yet that tiny fraction is responsible for all our unique traits and, sometimes, genetic disorders, we're interested, so let us know using our contact page!! If you're confused on how to navigate there, check our past blog posts that explain how to do it! 

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Introduction to Post! 

Our DNA is often described as a blueprint, a recipe, or an instruction manual, but what happens when there’s a mistake in the code? This article explores genetic disorders, how they arise, and how science is working to better understand, manage, and potentially treat them.

Let’s take a closer look at what happens when the code cracks! 

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Cracking the Code of Genetic Disorders

(5 Min Read >> Yes, I checked!) 

Introduction:

Our DNA is like an instruction manual for building and running the human body. Usually, this manual works pretty smoothly, but every now and then a “typo” sneaks in. These errors, called mutations, can sometimes cause what we know as genetic disorders.

At first, it may seem strange that a single change in DNA could make such a difference. But imagine baking a cake: if the recipe says “add one cup of sugar” and instead it reads “add one cup of salt,” the whole outcome changes. That is what happens in our cells when DNA instructions get mixed up.

So, what kinds of disorders can happen when the recipe goes wrong? Let’s take a look!

Single-Gene Disorders: 

Cystic Fibrosis (CF): In this condition, mucus in the lungs and digestive system becomes unusually thick and sticky, making it hard to breathe and digest food. Think of pipes clogging up in a house, except it is happening inside your body. 

People with CF often spend hours every day doing breathing treatments, take dozens of pills to digest food, and face frequent hospital stays. Without constant care, the buildup of mucus can cause life-threatening infections.

Sickle Cell Anemia: Normally, red blood cells are round and flexible, but in sickle cell anemia, they become rigid and crescent-shaped. These cells can get stuck in blood vessels, causing pain and blocking oxygen flow. Over time, the lack of oxygen damages organs, shortens life expectancy, and makes simple activities exhausting. And yet, families and patients often show incredible resilience while managing lifelong treatments. 

However, interestingly enough, carrying just one sickle cell gene can protect people against malaria. Sometimes nature trades one problem for another. 

Huntington’s Disease: This disorder is caused by a repeated stretch of DNA that should not be there. Symptoms usually appear later in life, starting with clumsiness or mood changes, then progressing to difficulty walking, speaking, and remembering. There is currently no cure, and many families live with the heavy weight of this disease across generations.

Chromosomal Disorders: 

Down Syndrome: Down syndrome occurs when an error happens during meiosis, the type of cell division that makes eggs and sperm. Normally, chromosome pairs separate evenly, but sometimes they fail to split apart, a mistake called nondisjunction. As a result, the child inherits three copies of chromosome 21 instead of the usual two. This condition is known as trisomy 21.

Trisomy 21 is the most common chromosomal disorder, affecting about 1 in every 700 babies in the U.S. Unlike many genetic conditions that appear later in life, it is present from birth. Children with Down syndrome often share certain facial features, may have lower muscle tone, and sometimes experience heart defects or developmental delays. But they also show a wide range of abilities, personalities, and strengths.

The impact of Down syndrome is profound not only because of the challenges it brings, but because it touches so many families worldwide. Early medical care, speech and physical therapy, and supportive education can make a huge difference, helping individuals with trisomy 21 grow, learn, and thrive. Today, many people with Down syndrome live well into adulthood, forming meaningful friendships, holding jobs, and leading fulfilling lives. 

Complex Disorders:  

Diabetes (Type 2): Having certain genes may make someone more prone to it, but lifestyle choices like diet and exercise play a huge role too. Left uncontrolled, diabetes can damage the eyes, kidneys, and nerves, leading to blindness, kidney failure, or amputations. But with care, many people manage their blood sugar and live full lives.

Alzheimer’s Disease: Certain genes can increase the chance of developing Alzheimer’s, but having these genes doesn’t mean it will definitely happen. For those who do develop it, memory and thinking skills may change gradually over time, which can make daily tasks more challenging. Families and caregivers play a crucial role, helping their loved ones maintain independence, stay engaged, and enjoy meaningful activities. Support programs, therapy, and community resources can make a big difference, allowing people with Alzheimer’s to continue experiencing connection, joy, and quality of life.

Can We Fix Genetic Disorders?

This is where science gets really exciting. Gene therapy, a method where faulty genes are replaced or repaired, is already being tested and in some cases used in treatments. Genetic testing can also warn families about risks early on. Still, genetics is complicated, and we are only at the beginning of figuring out how much we should or should not change our DNA.

Conclusion

Genetic disorders show just how powerful and delicate our DNA really is. A tiny glitch can change the course of a life, but our growing knowledge of genetics also gives us new ways to fight back.

In the end, genetics is more than just science. It is the story of what makes us human, and how even the smallest changes in our DNA can reshape our health and lives, showing how gene disorders can challenge us but also open the door to new discoveries and treatments. 

Sources

Ali, O. (2013). Genetics of type 2 diabetes. National Center for Biotechnology Information. https://pmc.ncbi.nlm.nih.gov/articles/PMC3746083/

Centers for Disease Control and Prevention. (2024, November 22). Living with Down syndrome. U.S. Department of Health & Human Services. https://www.cdc.gov/birth-defects/living-with-down-syndrome/index.html

Centers for Disease Control and Prevention. (2024, May 15). Data and statistics on sickle cell disease. U.S. Department of Health & Human Services. https://www.cdc.gov/sickle-cell/data/index.html

Cromwell, E. A., et al. (2023). Cystic fibrosis prevalence in the United States and worldwide. Cystic Fibrosis Journal, 23(1). https://www.sciencedirect.com/science/article/pii/S1569199323000619

Hajar, R. (2020). Genetics in cardiovascular disease. National Center for Biotechnology Information. https://pmc.ncbi.nlm.nih.gov/articles/PMC7006335/

Indus Health Plus. (n.d.). Most common genetic disorders and prevention tips [Image]. Indus Health Plus. https://www.indushealthplus.com/genetic-dna-testing/most-common-genetic-disorders.html

Kikkeri, N. S. (2023). Turner syndrome – StatPearls. StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK554621/

Medina, A. (2022). Prevalence and incidence of Huntington’s disease. National Center for Biotechnology Information. https://pmc.ncbi.nlm.nih.gov/articles/PMC10086981/

National Institute of Child Health and Human Development. (2025, January 3). How many people are affected by or at risk for Klinefelter syndrome? U.S. Department of Health & Human Services. https://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/risk

UChicago Medicine. (2020, August 3). Family matters: Understanding genetic risk for heart disease. https://www.uchicagomedicine.org/forefront/heart-and-vascular-articles/2020/august/understanding-genetic-risk-for-heart-disease

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Comment Prompt!

(I'm excited to hear everyone's thoughts, this article was beyond interesting and fun to write!)

1. Which genetic disorder discussed in this article did you find most impactful or surprising, and why?

2. Did the “recipe” analogy change how you think about mutations and DNA?

3. How do you feel about gene therapy? Excited, cautious, or somewhere in between?

4. Are there other biology or health topics you’d like Faces of Silicon Valley to explore in future posts?

Feel free to share your thoughts, reflections, or questions below. Respectful discussion is always welcome.

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Along the lines of something, my favorite biology teachers (Amoeba Sisters) always say, That’s all for now—stay curious!