Genetic Testing in EDS with Dr. Paldeep Atwal (Ep 112)

Bendy Bodies with Dr. Linda Bluestein

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.

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Learn about Dr. Paldeep Atwal

Website: https://atwalclinic.com/

IG / X / FB : @atwalclinic

Youtube: https://www.youtube.com/channel/UCffZDBcvf-vFRsT7k9GppTQ

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Blog: hypermobilitymd.com/blog

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