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Genetic Testing in EDS with Dr. Paldeep Atwal (Ep 112)
Manage episode 441923069 series 2805274
In this enlightening episode of the Bendy Bodies podcast, Dr. Linda Bluestein, the Hypermobility MD, is joined by renowned clinical geneticist Dr. Paldeep Atwal to delve into the complexities of genetics in hypermobile Ehlers-Danlos Syndrome (hEDS) and related conditions. Dr. Atwal explains the importance of genetic testing, the significance of variants of uncertain significance (VUSs), and the complexities of gene interactions in understanding EDS. They also explore the future of genetic research and what patients should know about genetic testing to avoid misinformation and unnecessary stress. Whether you're new to the world of EDS or looking for cutting-edge insights, this episode offers valuable guidance.
Takeaways:
Importance of Genetic Testing: Genetic testing can reveal rare types of Ehlers-Danlos Syndromes (EDS), even when hypermobile EDS is suspected.
Understanding Genetic Variants: Variants of uncertain significance can lead to confusion, making expert interpretation crucial for proper diagnosis.
Gene-Environment Interactions: Genetic variants do not work in isolation—gene-gene and gene-environment interactions play a significant role in how conditions manifest.
Complexity of Genetics in EDS: The absence of a genetic marker for hypermobile EDS highlights the need for continued research into the genetic basis of the condition.
Avoiding Direct-to-Consumer Pitfalls: Be cautious with direct-to-consumer genetic testing, as inaccurate results can cause unnecessary stress. Always consult a geneticist for interpretation.
Connect with YOUR Bendy Specialist, Dr. Linda Bluestein, MD at https://www.hypermobilitymd.com/.
Thank YOU so much for tuning in. We hope you found this episode informative, inspiring, useful, validating, and enjoyable. Join us on the next episode for YOUR time to level up your knowledge about hypermobility disorders and the people who have them.
Join YOUR Bendy Bodies community at https://www.bendybodiespodcast.com/.
Learn more about Human Content at http://www.human-content.com
Podcast Advertising/Business Inquiries: sales@human-content.com
YOUR bendy body is our highest priority!
Learn about Dr. Paldeep Atwal
Website: https://atwalclinic.com/
IG / X / FB : @atwalclinic
Youtube: https://www.youtube.com/channel/UCffZDBcvf-vFRsT7k9GppTQ
Keep up to date with the HypermobilityMD:
YouTube: youtube.com/@bendybodiespodcast
Twitter: twitter.com/BluesteinLinda
LinkedIn: linkedin.com/in/hypermobilitymd
Facebook: facebook.com/BendyBodiesPodcast
Blog: hypermobilitymd.com/blog
Part of the Human Content Podcast Network
Learn more about your ad choices. Visit megaphone.fm/adchoices
131集单集
Manage episode 441923069 series 2805274
In this enlightening episode of the Bendy Bodies podcast, Dr. Linda Bluestein, the Hypermobility MD, is joined by renowned clinical geneticist Dr. Paldeep Atwal to delve into the complexities of genetics in hypermobile Ehlers-Danlos Syndrome (hEDS) and related conditions. Dr. Atwal explains the importance of genetic testing, the significance of variants of uncertain significance (VUSs), and the complexities of gene interactions in understanding EDS. They also explore the future of genetic research and what patients should know about genetic testing to avoid misinformation and unnecessary stress. Whether you're new to the world of EDS or looking for cutting-edge insights, this episode offers valuable guidance.
Takeaways:
Importance of Genetic Testing: Genetic testing can reveal rare types of Ehlers-Danlos Syndromes (EDS), even when hypermobile EDS is suspected.
Understanding Genetic Variants: Variants of uncertain significance can lead to confusion, making expert interpretation crucial for proper diagnosis.
Gene-Environment Interactions: Genetic variants do not work in isolation—gene-gene and gene-environment interactions play a significant role in how conditions manifest.
Complexity of Genetics in EDS: The absence of a genetic marker for hypermobile EDS highlights the need for continued research into the genetic basis of the condition.
Avoiding Direct-to-Consumer Pitfalls: Be cautious with direct-to-consumer genetic testing, as inaccurate results can cause unnecessary stress. Always consult a geneticist for interpretation.
Connect with YOUR Bendy Specialist, Dr. Linda Bluestein, MD at https://www.hypermobilitymd.com/.
Thank YOU so much for tuning in. We hope you found this episode informative, inspiring, useful, validating, and enjoyable. Join us on the next episode for YOUR time to level up your knowledge about hypermobility disorders and the people who have them.
Join YOUR Bendy Bodies community at https://www.bendybodiespodcast.com/.
Learn more about Human Content at http://www.human-content.com
Podcast Advertising/Business Inquiries: sales@human-content.com
YOUR bendy body is our highest priority!
Learn about Dr. Paldeep Atwal
Website: https://atwalclinic.com/
IG / X / FB : @atwalclinic
Youtube: https://www.youtube.com/channel/UCffZDBcvf-vFRsT7k9GppTQ
Keep up to date with the HypermobilityMD:
YouTube: youtube.com/@bendybodiespodcast
Twitter: twitter.com/BluesteinLinda
LinkedIn: linkedin.com/in/hypermobilitymd
Facebook: facebook.com/BendyBodiesPodcast
Blog: hypermobilitymd.com/blog
Part of the Human Content Podcast Network
Learn more about your ad choices. Visit megaphone.fm/adchoices
131集单集
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