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Το περιεχόμενο παρέχεται από το Seizure Salad. Όλο το περιεχόμενο podcast, συμπεριλαμβανομένων των επεισοδίων, των γραφικών και των περιγραφών podcast, μεταφορτώνεται και παρέχεται απευθείας από τον Seizure Salad ή τον συνεργάτη της πλατφόρμας podcast. Εάν πιστεύετε ότι κάποιος χρησιμοποιεί το έργο σας που προστατεύεται από πνευματικά δικαιώματα χωρίς την άδειά σας, μπορείτε να ακολουθήσετε τη διαδικασία που περιγράφεται εδώ https://el.player.fm/legal.
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Decoding Epilepsy with Dr. Dee McKnight

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Manage episode 362821886 series 2649257
Το περιεχόμενο παρέχεται από το Seizure Salad. Όλο το περιεχόμενο podcast, συμπεριλαμβανομένων των επεισοδίων, των γραφικών και των περιγραφών podcast, μεταφορτώνεται και παρέχεται απευθείας από τον Seizure Salad ή τον συνεργάτη της πλατφόρμας podcast. Εάν πιστεύετε ότι κάποιος χρησιμοποιεί το έργο σας που προστατεύεται από πνευματικά δικαιώματα χωρίς την άδειά σας, μπορείτε να ακολουθήσετε τη διαδικασία που περιγράφεται εδώ https://el.player.fm/legal.

We've talked about genomics in relation to medications, and precision medicine using DNA panels. In this episode, we narrow it down with Dee McKnight, a genetic specialist in the epilepsy community. Dee has been a part of the effort to bring genetic testing as a common diagnostic practice from the early days. Enjoy this eye-opening episode, and share with everyone, as it has the possibility to save lives.

Here are links to the papers Dee references in our conversation: Mostly kid's testing results: https://onlinelibrary.wiley.com/doi/10.1002/epi4.12348 Adult epilepsy study: https://ng.neurology.org/content/8/1/e650 Doctor's changes to clinical management and patient outcomes study: https://jamanetwork.com/journals/jamaneurology/fullarticle/2797510

Dr. Dee McKnight is board-certified in clinical molecular genetics by the American Board of Medical Genetics and Genomics. She has more than 10 years of experience in the genetic diagnostics field and is currently a Senior Medical Affairs Director at Invitae. Prior to joining Invitae, Dr. McKnight was the director of the neurogenetics testing program at GeneDx, where she specialized in genetic testing for patients with epilepsy and intellectual disability. Dr. McKnight earned her doctorate degree at Penn State University and completed post-doctoral training at the NIH. While at the NIH, she was a research fellow at the National Institute of Dental and Craniofacial Research for 5 years, during which she also completed her board-accredited clinical molecular genetics training fellowship at the National Human Genome Research Institute.

“Seizure Salad, ~Fustercluck Epilepticus~”, is produced & hosted by Micah Ball

Original Logo and Graphic Design by Alba "Lupi" Lopez

The song “Seizure Boy” courtesy of Watsky, and used with permission. Find more great music & poetry on his website, GeorgeWatsky.com

Thanks for listening!

Mad Gratitude,

~Micah

Unexpect the Expected

  continue reading

354 επεισόδια

Artwork
iconΜοίρασέ το
 
Manage episode 362821886 series 2649257
Το περιεχόμενο παρέχεται από το Seizure Salad. Όλο το περιεχόμενο podcast, συμπεριλαμβανομένων των επεισοδίων, των γραφικών και των περιγραφών podcast, μεταφορτώνεται και παρέχεται απευθείας από τον Seizure Salad ή τον συνεργάτη της πλατφόρμας podcast. Εάν πιστεύετε ότι κάποιος χρησιμοποιεί το έργο σας που προστατεύεται από πνευματικά δικαιώματα χωρίς την άδειά σας, μπορείτε να ακολουθήσετε τη διαδικασία που περιγράφεται εδώ https://el.player.fm/legal.

We've talked about genomics in relation to medications, and precision medicine using DNA panels. In this episode, we narrow it down with Dee McKnight, a genetic specialist in the epilepsy community. Dee has been a part of the effort to bring genetic testing as a common diagnostic practice from the early days. Enjoy this eye-opening episode, and share with everyone, as it has the possibility to save lives.

Here are links to the papers Dee references in our conversation: Mostly kid's testing results: https://onlinelibrary.wiley.com/doi/10.1002/epi4.12348 Adult epilepsy study: https://ng.neurology.org/content/8/1/e650 Doctor's changes to clinical management and patient outcomes study: https://jamanetwork.com/journals/jamaneurology/fullarticle/2797510

Dr. Dee McKnight is board-certified in clinical molecular genetics by the American Board of Medical Genetics and Genomics. She has more than 10 years of experience in the genetic diagnostics field and is currently a Senior Medical Affairs Director at Invitae. Prior to joining Invitae, Dr. McKnight was the director of the neurogenetics testing program at GeneDx, where she specialized in genetic testing for patients with epilepsy and intellectual disability. Dr. McKnight earned her doctorate degree at Penn State University and completed post-doctoral training at the NIH. While at the NIH, she was a research fellow at the National Institute of Dental and Craniofacial Research for 5 years, during which she also completed her board-accredited clinical molecular genetics training fellowship at the National Human Genome Research Institute.

“Seizure Salad, ~Fustercluck Epilepticus~”, is produced & hosted by Micah Ball

Original Logo and Graphic Design by Alba "Lupi" Lopez

The song “Seizure Boy” courtesy of Watsky, and used with permission. Find more great music & poetry on his website, GeorgeWatsky.com

Thanks for listening!

Mad Gratitude,

~Micah

Unexpect the Expected

  continue reading

354 επεισόδια

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