ASRM Today: Genetics - Episode Three

Genetic diseases: What happens when our genetic code - our biological blueprint - contains an error? How do these errors lead to disease? And how are scientists working to correct them? We'll answer these questions and explore the exciting advances in gene therapy that could transform the future of medicine.

Guest: Aishwarya Arjunan, MS, MPH, CGC

Welcome to ASRM Today, a podcast that takes a deeper dive into the current topics in reproductive medicine. Welcome to ASRM Today, I'm your host Jeffrey Hayes, and in today's episode we're delving into a topic that affects millions of people worldwide, genetic diseases. What happens when our genetic code, our biological blueprint, contains an error? How do these errors lead to disease, and how are scientists working to correct them? We'll answer these questions and explore the exciting advances in gene therapy that could transform the future of medicine.

Let's start with the basics. Genetic disease is caused by a mutation or change in an individual's DNA. These mutations can be inherited from a parent, occurring randomly during cell division, or could be caused by environmental factors like radiation or chemicals.

Genetic diseases come in many forms. Some are monogenic, caused by mutations in a single gene, like cystic fibrosis or sickle cell anemia. Others, like type 2 diabetes or heart disease, are polygenic, involving multiple genes as well as environmental factors.

Some genetic mutations are inherited. For example, Huntington's disease is caused by a dominant mutation, meaning that just one copy of the defective gene can lead to the condition. On the other hand, cystic fibrosis is recessive, requiring two copies, one from each parent, for the disease to develop.

Other mutations occur spontaneously. These are called de novo mutations, and can happen during the formation of eggs, sperm, or an early embryonic development. I went back to my guest, Aishwarya Arjunan, to ask about genetic diseases and their effects on us.

Genetic diseases are conditions caused by changes or mutations in a person's DNA. These mutations could be inherited from the biological parent, or they could occur spontaneously. Some well-known genetic conditions include cystic fibrosis, sickle cell anemia, Huntington's disease, and in the world of cancer, certain hereditary cancer syndromes that are caused by mutations in genes like BRCA1 or BRCA2.

And these diseases can affect people in different ways. So some genetic conditions could impact daily life for individuals that might have, they could have chronic symptoms, while other genetic conditions might not even appear until later on in life. So there's some conditions like cystic fibrosis, for example, that's part of newborn screening.

So all babies born in the United States at birth are screened for a number of genetic conditions. And if a baby is found to be at increased risk for cystic fibrosis and eventually diagnosed with the condition, that cystic fibrosis affects the lungs and the digestive system. So they might require lifelong treatment.

But on the other side, there's genetic conditions like Huntington's disease, which is a progressive neurological disorder that tends to appear more in adulthood. And so people might not even know that they have that condition until later on in life. But in general, genetics research has really come a long way in our ability to even test for these conditions or understand what these conditions are.

And there's a lot more advances being made in gene therapy and personalized medicine to kind of opening the door for what sort of treatments might be available and even being able to test for some of these conditions. Historically, the diagnosis might have been made based on a physical exam or doing some sort of metabolite testing. But now, as we've understood more about the human genome and the genetic sequences, we're able to do specific testing for a number of these conditions.

But there's still a lot of conditions where we still don't have all of the answers to. And so there's still a lot left to learn in the space, in the field of genetics and genomic medicine. Let's talk about the groundbreaking work being done to treat genetic diseases at their source.

Gene therapy involves modifying or replacing defective genes to correct the underlying causes of a disease. One of the most exciting breakthroughs in recent years is CRISPR, a gene editing technology that acts like molecular scissors, allowing scientists to cut out faulty DNA and replace it with a healthy version. .

I think gene therapy is really one of the most exciting advances in medicine today. Really at its core, gene therapy aims to treat or even potentially cure diseases by directly kind of modifying or replacing the faulty gene that might be in an individual's cells. And so it really has incredible potential for certain genetic conditions like cystic fibrosis or sickle cell disease or muscular dystrophy to change the trajectory of what it means to have one of those conditions.

And at one point in time in history, many of these genetic conditions people have had were once thought to be untreatable at the genetics level, right? And so we really were focusing on symptomatic treatment and kind of addressing the symptoms as they arose in individuals. But gene therapy really gives us this opportunity to get in and potentially correct the mistake that is at the cellular level for individuals. But it's not perfect.

There's still a lot of challenges that we have to figure out and navigate. Ethical concerns, potential risks, the cost of treatment. These are all still things that we need to figure out and address.

But I think as research continues, gene therapy really could shift how we approach medicine and moving us away from that symptomatic management and closer to hopefully potential cures for these individuals. And so I think it still is in its early stages, but I do think it has a huge role to play in the future of health care and medicine for individuals. Of course, with great power comes great responsibility.

Gene editing raises a host of ethical questions. Should we use this technology only to treat severe diseases? Or could it lead to designer babies where parents choose their children's traits? There are also technical challenges. Gene therapy is expensive, and delivering the treatment to the right cells without causing unintended effects is still a hurdle.

Despite these challenges, the future of genetic medicine is incredibly bright. Advances in technologies like CRISPR and whole genome sequencing are bringing us closer to cures for diseases that were once thought untreatable. For families affected by genetic conditions, these breakthroughs offer hope.

Imagine a world where conditions like Huntington's disease, muscular dystrophy, or cystic fibrosis are not just manageable, but curable. Thank you for joining me today on the show. We've explored the science of genetic diseases, the challenges they pose, and the exciting advancements that could change countless lives.

If you enjoyed this episode, please subscribe, leave us a review, and share it with your friends. Till next time, I am Jeffrey Hayes, and this is ASRM Today. This concludes this episode of ASRM Today.

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These are provided as a source of general information and are not a substitute for consultation with a physician.