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Welcome to the Empowered Patient Podcast with Karen Jagoda.  This show is a window into the latest innovations in applying generative AI, novel therapeutics and vaccines, and the changing dynamics in the medical and healthcare environment. One focus is on how providers, pharmaceutical companies, and payers are empowering patients.  In addition, conversations are often about how providers, care facilities, pharmaceutical companies, and payers are being empowered by technology to improve patient outcomes and reduce friction across the healthcare landscape.

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  • Virtual and digital health
  • Use of AI, ML, and LLM in healthcare and drug discovery, development, trials
  • Value-based healthcare 
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  • Next-generation immuno, cell, and gene therapies
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  • Addressing Social Determinants of Health
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  • Clinician and staff burnout

The audience includes life science leaders, researchers, medical professionals, patient advocates, digital health entrepreneurs, patients, caregivers, healthcare solution providers, students, journalists, and investors. 

 

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Empowered Patient Solutions

May 31, 2023

 Dr. Deb Ondrasik is a pediatrician based in Massachusetts, and the topic today is the CACNA1A Foundation and its work on raising awareness about developmental disabilities. Deb's daughter was diagnosed in 2015 as one of eight children worldwide with a CACNA1A gene mutation causing epileptic encephalopathy. This is a story about the need for whole genome sequencing to determine the root cause of childhood developmental delays and the value of this information for developing a treatment plan. 

Deb explains, "CACNA1A is a genetic mutation that's a group of diseases that can present in a number of different ways. It's mutations along a gene that affects the calcium channels and the neurons, and it's on chromosome 19. And so, there are numerous hundreds of different point mutations that could present a little differently. But kiddos can have anything from developmental delays to autism to epileptic encephalopathy, which my daughter has. Also, there are other conditions like hemiplegic migraines. And so, it is a variety of neurodevelopmental disorders that can be presenting."

"I work as a general pediatrician. I see a lot of kids that have delays and significant delays or autism or epilepsy. And oftentimes, the families are told that that's the diagnosis. Your child has epilepsy, and we're going to give them some meds and see if we can control it. Or, if your child has autism, we're going to get them into therapy, which is partly correct. Medication is super helpful, and therapy is super helpful. But I think what's really important is to try to find the root cause of the symptoms, which are epilepsy, autism delays. And oftentimes, for some reason, pediatricians and even neurologists don't always go ahead and do the genetic testing." 

@CACNA1A #CACNA1AFoundation #CureCACNA1A #RareDiseases #RareDiseaseAwareness #CACNA1AAwareness #PatientAdvocacy #CACNA1AResearch #Epilepsy #IntellectualDisabilities #CerebellarAtrophy #CongenitalAtaxia #CaregiverSupport #WholeGenomeSequencing

CACNA1A.org

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CACNA1A