What if I told you that your body comes with its own personal set of instructions? Well, it actually does!
DNA (deoxyribonucleic acid) is the manual inside almost every cell, telling your body how to grow, function, and stay alive.
It's made up of four building blocks: A, T, C, and G. These building blocks form a code, kind of like letters in a sentence, providing instructions to your cells.
This code tells your body how to build muscle, make enzymes, and even determine your eye color. Pretty cool, right?
Each set of instructions is called a gene, and your body has around 20,000 of them, each with a specific job. When your body needs something, like a protein, it reads the appropriate gene, makes a copy, and gets to work. For example, if you get a cut, your cells read the gene for clotting proteins to stop the bleeding.
However, if a gene is damaged, it can lead to diseases, ranging from birth defects to cancer risks.
We sat down with Heidi Rehm, PhD, Chief Genomics Officer for Massachusetts General Hospital, to hear all about her research in genetics (and even some of her hobbies).
Through her research, Dr. Rehm is identifying genes underlying rare diseases with the goal of helping families find answers, seek appropriate treatment, and better plan for the future.
What do you think people misunderstand the most about our DNA?
I believe there's a common misconception about disease genes. Many people talk about whether they have a specific disease gene, thinking that there are separate genes that cause diseases.
In reality, disease genes are actually normal functioning genes that, when disrupted, lead to disease.
So, the misunderstanding lies in the idea that there are distinct disease genes, whereas it's more about the disruption of normal genes.
What's something about DNA or genetics that you wish more people knew?
I wish more people realized that rare diseases are actually quite common collectively.
One in ten individuals has a rare disease, and when you add them all up, these diseases have a significant impact on people's lives.
While each rare disease is individually uncommon, together they affect a large portion of the population.
Can you tell me about your current research in genetics?
I've been fascinated by genetics since I was a kid. As a type A person, I love the logical simplicity and elegance of how a gene, in the form of DNA, creates RNA, which creates a protein. Understanding this pathway, and how it can be disrupted, has always captivated me.
The ability to define diseases and understand their causes is something I find incredibly fascinating and have always wanted to explore.
The genetics of rare disease attracts me because providing diagnoses to patients allows me to make a direct difference in patients' lives, which is truly rewarding.
Our work leads to improvements in genetic testing by discovering new causes of diseases, which are then incorporated into everyday genetic tests.
We also help interpret the variants found in these tests, turning inconclusive results into definitive explanations for patients' conditions.
We develop tools, resources, and knowledge that contribute to the answers patients receive from genetic tests.
Can you talk to me a little bit about the collaboration between the Broad Institute and Mass General Brigham?
I work at both Mass General Brigham and the Broad Institute.
At Mass General Brigham, we collaborate with physicians and scientists who see patients with rare diseases. We enroll these patients into our studies and assist clinician scientists in studying specific diseases.
At the Broad Institute, we focus on large-scale, cost-effective sequencing and developing technical solutions to complex challenges.
By bringing together the expertise of disease specialists and technology experts from both institutions, we can make a significant impact in this field.
If you weren't a scientist, what totally different career would you want to try?
I've always loved the outdoors. During graduate school, I ran a mountain club and organized backpacking and biking trips. If I ever left science, I would probably work in the forest.
What's a fun fact about you that people might not expect from a genetics researcher?
One of my hobbies is playing ultimate Frisbee. I still actively play every summer on a team called Toads, which I love.
It keeps me active, and while many people know this about me, not everyone does.
What's a fun fact about you that people might not expect from a genetics researcher?
Given my love of the outdoors, if I took a month off, I would visit places with beautiful environments. Costa Rica is one of my favorite destinations because of its wonderful wildlife and scenery.
I also want to visit New Zealand, as I've heard amazing things about its outdoor experiences. Iceland is another place on my list, as I am captivated by the natural wonders of the world.
Research at Mass General Brigham
At Mass General Brigham, research isn’t just about discovery—it’s about transforming patient care worldwide.
With a community of more than 3,700 Principal Investigators and 16,000 scientists, we are pioneering discoveries in fields ranging from AI and gene therapy to cancer, neuroscience, and global health.
Through collaboration, innovation, and a relentless pursuit of knowledge, we turn groundbreaking ideas into real-world impact. Follow us for the latest research insights, clinical advancements, and stories of discovery from across Mass General Brigham.
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