Charting Pediatrics29 Okt 2024

Addressing Neurologic Conditions with Precision

One of the great medical accomplishments of our time is the evolution of precision medicine. The ability to understand a patient's unique genetic profile has become more accessible to our patients, and now, there are multiple mechanisms for using that information to overcome disease.

One of the specialties leading the way in precision medicine is pediatric neurology. According to the World Health Organization, more than one in three people are affected by some type of neurological condition. They are a leading cause of ill health and disability worldwide. This subset of precision medicine will not only help us decrease those numbers but also allow us to treat some of these conditions in ways we have never done before.

To detail this exciting work, we're joined by two experts. Scott Demarest, MD, and Julie Parsons, MD, are both pediatric neurologists at Children's Hospital Colorado and faculty at the University of Colorado School of Medicine. Dr. Demarest focuses on rare epilepsy conditions, and Dr. Parsons specializes in neuromuscular disease. Dr. Demarest is the Clinical Director of the Precision Medicine Institute at Children's Colorado.

Some highlights from this episode include:

Understanding precision neurology within the context of precision medicine
Why precision neurology positively impacts diagnosis and treatment options
How families are more easily accessing important genetic testing
The role primary care providers play with caring for these rare diseases

For more information on Children's Colorado, visit: childrenscolorado.org.   

Det här avsnittet är hämtat från ett öppet RSS-flöde och publiceras inte av Podme. Det kan innehålla reklam.

Avsnitt(487)

Hantavirus Beyond the Headlines

When a rare disease suddenly dominates headlines, questions spread quickly and so does anxiety. Over the past few weeks, hantavirus has re-entered the national conversation, leaving many families wond...

28 Maj 30min

The Pediatric UTI Playbook

Pediatric urinary tract infections, or UTIs, don't always follow a script. While they're one of the most common diagnoses, they're also one of the most nuanced. They can be subtle, inconsistent and ea...

26 Maj 37min

Genetic Testing in Pediatrics

Genetic testing is no longer a distant, specialized tool reserved for rare disease clinics or academic centers. It's showing up in pediatric practice. For example, pediatricians are increasingly consi...

19 Maj 33min

Conjunctivitis Confusion in Kids

It's one of the most common calls you'll get as a pediatrician, and one of the fastest infections to spread through a classroom. A pink eye shows up and suddenly the questions follow: Is it contagious...

12 Maj 26min

Picky Eating or ARFID?

"Picky eater" is one of the most common labels in pediatrics and one of the easiest to overlook. But when a child's diet is shrinking instead of expanding, when meals are a source of stress instead of...

5 Maj 32min

The Future of Food Allergy

A toddler takes their first bite of peanut butter and breaks out in hives. A parent sits across from you, equal parts frightened and overwhelmed, asking the question you hear every day, "What happens ...

28 Apr 31min

Gut Instincts: The Pediatric Microbiome

Inside every one of us is a complex, evolving ecosystem influencing everything from immunity to inflammation to long-term health. This is known as our gut microbiome. The choices made early on, such a...

21 Apr 33min

The Parent Behind the Patient

Every pediatric visit tells two stories. One is about the child in front of us: their growth, symptoms and milestones. The other belongs to the parent beside them, often unspoken but deeply felt. In t...

14 Apr 36min