#166 Beta Thalassemia with Radhika Sawh

DNA Today: A Genetics Podcast

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We also wanted to give a shoutout for a Twitter Spaces conversation Dena Goldberg (Dena DNA) and Kira Dineen co-hosted this past Monday. A bunch of genetic counselors and genetic experts joined us in the live discussion about the NY Times article that was featured on the front page this week. The recorded audio is not top quality, which is why we didn’t release it as a podcast episode, however the conversation is top quality.

To kick off 2022 and celebrate national Blood Donor Month, genetic counselor Radhika Sawh joins our host Kira Dineen on the podcast to discuss beta thalassemia.

Radhika is a genetic counselor and patient advocate for thalassemias. She worked as the National Director of Patient Services for the Cooley's Anemia Foundation prior to joining the faculty of the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College (where she met our host Kira Dineen!) Radhika has a personal tie to the community as she has beta thalassemia major and frequently speaks on behalf of the New York Blood Center as a volunteer blood donor advocate.

On This Episode We Discuss:

Types of thalassemias

How beta thalassemia has impacted Radhika’s life

The evolution of treatments for beta thalassemia and their impact on life expectancy for those with the condition

The genetic difference between sickle cell and beta thalassemia

What Radhika wants genetic counselors and other healthcare providers to understand about the experience of living with beta thalassemia

The importance of blood donation and requirements to be a donor

Learn more about thalassemia in Radhika Sawh’s 2021 paper, “Transfer of care for people with severe forms of thalassemia: Learning from past experiences to create a transition plan” and check her out on LinkedIn.

Stay tuned for the next new episode of DNA Today on January 14th where we’ll be discussing the future of cancer genetics! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 165 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 and 2022 are also recorded with video which you can watch on our YouTube channel.

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Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine! By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow students throughout the program. Applications are now being reviewed for the Spring 2022 cohort starting January 31st, and a limited number of spots are still available. (SPONSORED)

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Unfortunately, there is an underrepresentation of people of Non-European descent in genetic studies. We’ve explored this in multiple episodes of DNA Today. Allelica is also very aware of this issue and how polygenic risk scores developed for people who are of European descent cannot be applied to other ancestries without further validations. To directly address this, Allelica developed new models to improve predictive power in Non-European people. Allelica validated their polygenic risk scores in Non-Europeans population to provide ancestry specific genetic risk assessment. Interested in learning more? Visit Allelica.com. Allelica: Empowering the next generation of clinical genomics. (SPONSORED)