The Benefits of Registering for Rare Diseases?

In honor of Vision Health Month and Blindness Awareness Month, we are exploring Blueprint Genetics’ My Retina Tracker program with ​​Khalida Liaquat, who is a genetic counselor and the Senior Manager of Genomic Services at Quest Diagnostics. Our other guest is Ariana Lichtenstein, who is the Director of Business development at Blueprint Genetics.

Blueprint Genetics is a genetic testing company focused on inherited diseases. With a patient-first mindset, they deliver high-quality genetic testing to the global clinical community across 15 medical specialties, with a customer base spanning over 70 countries. By combining a state-of-the-art laboratory process, the latest sequencing technology, AI empowered data-crunching tools and techniques, world-class professionals, and a holistic customer experience approach, we are bringing genetic knowledge to mainstream healthcare.

Khalida Liaquat, MS, CGC, is a graduate of the Sarah Lawrence College genetic counseling program and is certified by the American Board of Genetic Counseling and is a licensed genetic counselor in the state of Massachusetts. Khalida is a Senior Manager of Genomics Services at Quest diagnostics and supports the Athena Diagnostics and Blueprint Genetics laboratories. Her clinical work history includes serving as clinical prenatal and pediatric genetic counselor at Kings County Hospital Center and Woodhull Medical Center in Brooklyn, NY. Her special interests include patient advocacy, variant sciences and education. Khalida is an active member of the National Society of Genetic Counselors.

Ariana Lichtenstein, MS, graduated cum laude from Vanderbilt University with a degree in Neuroscience. Her passion is the genetics of epilepsy disorders, and she conducted research on dopamine transporter protein in the Department of Pharmacology while at Vanderbilt. She is the Director of Business Development at Blueprint Genetics, managing relationships with BioPharma clients based in the Americas. Ariana has spent the past decade on the commercial side of the molecular diagnostics industry, working for both prenatal and postnatal commercial laboratories.

On This Episode We Discuss:

Inherited retinal dystrophies (IRD)

The My Retina Tracker Program and registry

The benefits of joining rare disease registries

The privacy of registries

Informed DNA and its benefits

How knowing one’s IRD gene mutation help them qualify for clinical trials

Blueprint Genetics’ testing panel

Benefits of genetic testing for IRD patients

Want to learn more about inherited retinal dystrophies (IRD)? Blueprint Genetics is hosting a webinar on May 24th, 2022. Register here. Head over to blueprintgenetics.com and follow Blueprint on Twitter, Facebook, and LinkedIn. Connect with our guests, Khalida and Ariana on their social media channels: Khalida's Twitter, Khalida's LinkedIn, and Ariana's LinkedIn

Stay tuned for the next new episode of DNA Today on May 20, 2022 where we’ll be joined by Yael Joffe, host of The Power of Genetics podcast, to discuss nutrigenomics! In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli.

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 global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on June 1st! You can sign up at SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (SPONSORED)