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Charting Pediatrics

Dec 5, 2023

For most of our careers, our treatments for genetic -based diseases have been supportive, not curative. Our medication recommendations for patients have been based on the expected response of the average individual, but as experts explain, these practices are going to change fast. We are on the cusp of a revolution for two main reasons. First, the ability to understand one’s unique genetic profile through genetic sequencing has become more accessible to clinical teams. Second, there are now mechanisms for manipulating one’s genetic code to overcome diseases. So what does this mean we can expect over the next decade? Scott Demarest, MD, shares his experience in precision medicine and what that foreshadows for treatments to come. “This is sort of the most extreme version of personalized care that you can imagine and it was something that redefined what we think of as possible within medicine,” Dr. Demarest says.

Dr. Demarest is an associate professor of pediatric neurology at the University of Colorado School of Medicine and the clinical director of the Precision Medicine Program at Children’s Hospital Colorado. He’s a perfect expert for this topic, as his research has focused on the characterization of clinical features and clinical trial design for disease -modifying treatments, as well as the development of novel precision therapies for epilepsy and neurogenetic conditions. “I think it’s really important that we embrace the genomic era but that we do it very carefully and responsibly,” Demarest says.

Some highlights from this episode include: 

  • Explanation of precision medicine
  • What types of treatments have evolved over time that allow us to manipulate someone’s genetic code
  • Current barriers to more regular use of precision medicine
  • How ethics play a role in this specified type of medicine
  • Experience designing a treatment for one individual patient

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