Update: The American Red Cross has declared the first ever national blood crisis. While this shortage has the potential to impact us all, it is especially threatening for many people with genetic blood disorders such as beta thalassemia. Learn more in this ThinkGenetic article written by genetic counselor Jessica Dronen. Please join us in donating as soon as possible.

Happy 2022, this year celebrate 10 years of DNA Today! Thank you all for listening and supporting the show. We have so many fantastic episodes lined up for this year.

Spotify just released a new feature, the ability for listeners to rate podcasts. If you’ve enjoyed the podcast PLEASE rate on Spotify! This is how new listeners will find and enjoy the show. In order to rate you need to use the Spotify app and listen to at least 30 seconds of the podcast. Under the logo you will see “No Rating”, click on that and give us 5 stars. Since this is a brand new Spotify feature rating now will help us rank higher among science podcasts!

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.

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.

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

Do you have patients with Primary Mitochondrial Myopathy? There is a new clinical study looking for people with PMM to enroll. People with Primary Mitochondrial Myopathy can experience muscle weakness or exercise intolerance. This study is assessing the efficacy and safety of a drug to help patients walk further by improving their muscle function. Find out about the study for Primary Mitochondrial Myopathy and how your patients can participate by going to pmmstudy.com.

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.

As mentioned, we are in a national blood crisis a dangerously low blood supply and you can help. Head over to the American Red Cross to schedule your blood donation.

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.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.

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.