Our guest this week is Giordano Bottà, a biologist and bioinformatician, who is joining us to discuss polygenic risk scores.

Giordano earned a PhD in Public Health and he has extensive experience in analysis of large genomics dataset. During his career he has had the opportunity to work with some of the top genomics experts in the world at the University of Oxford, publishing in the journal Nature.

He is a co-founder and CEO of Allelica, which created a software to help clinical genetics labs to perform polygenic risk score analysis.

Enter a giveaway on our social media! Win free enrollment to a 3-hour course in the Allelica Polygenic Risk Score Clinical Academy covering the research behind PRS to clinical applications with exclusive perspective from Allelica CSO George Busby. You can enter via this Tweet, LinkedIn Post, and Instagram Post. This has been posted at 9am on January 21st and will end on February 4th.

Do you want to connect with other people who have the same genetic variant as you? You should check out “Connect My Variant”, it’s an online resource that allows you to do just that.

“Connect My Variant” also provides different avenues of informing your family of possible inherited risk of disease. This includes helping find where your variant came from and finding distant cousins that may also be at risk. The University of Washington has supported the “Connect My Variant” project in an effort to help patients and families understand where their unique genetic variants come from. Check out it at ConnectMyVariant.org.

On This Episode We Discuss:

What is a polygenic risk score (PRS)?
How PRSs are empowering the next generation of clinical genomics
Types of conditions that PRS can be calculated for
Who can benefit the most from PRSs

How Allelica is addressing the underrepresentation of people of Non-European descent in genetic studies with PRS
Using PRS to assess risk for heart disease and cancer

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 closing for the spring cohort, but there are still spots available for summer and fall 2022.

To learn more about Giordano, check him out on Twitter, LinkedIn and Instagram, and stay up to date with Allelica on Twitter and LinkedIn.

Stay tuned for the next new episode of DNA Today on January 28, 2022 where we’ll be discussing cytogenomics with Phase Genomics! 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.

PerkinElmer Genomics is a state-of-the-art biochemical and molecular genetics laboratory that provides newborn screening and genomic testing services around the world. With over seven million newborns screened since 1994, PerkinElmer Genomics’ laboratory pairs decades of newborn screening experience with a leading-edge clinical genomics program to offer one of the world’s most comprehensive programs for detecting clinically significant genomic changes. Learn more at PerkinElmerGenomics.com