130 Rapid Whole Genome Sequencing: Unlocking a Puzzle
https://302.buzz/PM-WhatAreYourThoughts
The medical world is accomplishing great things; for example - Rapid Whole Genome Sequencing. A cutting-edge concept that has cut diagnoses of rare diseases from weeks and months to days and hours. It’s called Project Baby Deer and it’s focused on implementing evidence-based precision medicine and pediatrics to facilitate rapid whole genome sequencing for sick inpatients, neonates and children across the state. The project was born out of a collaboration between Dr. Caleb Bupp, Dr. Andrea Scheurer and Dr. Joseph Fakhoury. Your host, Dr. Lia Gaggino talks with these 3 clinicians about this groundbreaking initiative that is helping to provide better care for children across the state. If you know someone who is in medical school, you’ll need to share this episode with them.
[00:33 -28:07] Intros / What is Rapid Whole Genome Sequencing?
[28:08- 35:40] Benefits of Genetic Testing for Children
[35:41 -46:04] The Benefits of Collaboration
[46:05 - 1:02:49] What is Rare Disease Day?
[1:02:50 - 1:08:48] Closing segment Takeaway.
You can reach Dr. Joseph Fakhoury
Facebook: Joe Fakhoury | Facebook
Instagram: @jfakhoury.515
LinkedIn: Joseph Fakhoury | LinkedIn
You can reach Dr. Andrea Scheurer
Facebook: Andrea Scheurer Monaghan | Facebook
Instagram: @amsmonaghan
LinkedIn: andrea scheurer-monaghan
Twitter: @ascheurermd / Twitter
You can reach Dr. Caleb Bupp
LinkedIn: caleb bupp | Search | LinkedIn
@raredeseaseday
#raredeseaseday
Links to resources mentioned on the show.
Project Baby Deer: https://www.mha.org/issues-advocacy/project-baby-deer/
Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer https://doi.org/10.3390/children10010106
Rapid Genome Sequencing: Consent for New Technologies in the Neonatal Intensive Care Context:
https://publications.aap.org/pediatrics/article/150/6/e2022058222/190125/Rapid-Genome-Sequencing-Consent-for-New
Other episodes you may like:
Episode #126
Body Grief and Ableism: Lived Experience
httfps://302.buzz/126BodyGrie
Key quotes for Twitter:
"The name Project Baby Deer was really modeled after a California project entitled Project Baby Bear" - Dr. Andrea Scheurer
"We now have the ability to use genetic testing and to use genetic testing that comes back fast to make diagnoses" - Dr. Caleb Bupp
“She (Dr. Scheurer) reached out to me and a couple other subspecialists just to sort of gauge our interest. And I dove right in…” - Dr. Joseph Fakhoury
THANK YOU FOR YOUR SUPPORT!
Pediatric Meltdown was listed as a Top 20 Pediatric Podcast on FeedSpot.
If you’d like to connect with me, you can Tap the “What Are Your Thoughts” button at the top of the notes or you can find me on LinkedIn, Facebook, Instagram, and Twitter, or email me at gagginol@medicalbhs.com or gagginol@yahoo.com. To learn more about me visit https://www.medicalbhs.com/
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