Dana-Farber/Boston Children’s Dr. Lisa Diller provides insight on newborn screening for childhood cancer conditions like retinoblastoma and Li-Fraumeni syndrome.
All in Interview
#293 Smith-Magenis Syndrome with Parent Scotti Taylor
An advocate and parent shares her personal journey and insights about her adult daughter who was recently diagnosed with SMS.
#292 TALEN® Gene Editing Technology with Cellectis
Dr. Julien Valton, explains how TALEN® gene editing technology works, what conditions are currently being worked on and the future of gene editing.
#289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2
Part two of our interview with Victoria Gray, the first person who has been cured with a genetic condition (sickle cell) using CRISPR. She shares the process of the CRISPR treatment and her (lack of) symptoms.
#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1
Victoria Gray is the FIRST person to be cured with a genetic condition using CRISPR, in part one of this interview she shares about her sickle cell pain crises and medical racism experiences prior to being cured.
#287 Familial Hypercholesterolemia with Jess and Julie
Jess shares her family’s unexpected diagnosis with Familial Hypercholesterolemia and she is joined by her genetic counselor who was instrumental in the process.
#286 Qatar Genome Program with Dr. Said Ismail
The largest genome sequencing initiative in the Middle East and the first whole-genome sequencing operation in the region to study Qatari and Arab genomes.
#285 AI To Enhance Variant Curation with Daniel Uribe
A follow up interview to our most streamed episode of 2023 to explore how AI can be used as a tool to prioritize or curate variants from genetic testing.
#283 Cardiogenetics with Blueprint Genetics
Exploring the intricate nexus of genetics and cardiac health with expert counselors Julie Hathaway and Susan Christian, unraveling insights and strategies to navigate genetic testing in cardiovascular conditions.
#281 Tay-Sachs with Dr. Matthew Goldstein
Episode drop of “It Happened To Me” sharing the story of a heartbreaking Tay Sachs diagnosis inspiring a career in carrier screening.
#280 Celebrating Down Syndrome with Parent & Nurse Jenness Stock
With National Down Syndrome Awareness day coming up on March 21st Jenness Stock, a patient advocate, parent and nurse, shares her family’s story.
#279 Reflecting on 50 Years of Greenwood Genetic Center
Lori Bassett, a board-certified genetic counselor and the Director of Communications at GGC, commemorates the 50th anniversary by sharing GGC’s remarkable contributions to genetics.
#278 DNA Dialogues: Rare Disease Family Experience
New podcast launch! Check out the first episode of the official Journal of Genetic Counseling Podcast, “DNA Dialogues”.
#277 Trisomy 18 with Parent Sarita Edwards
Fellow podcaster (Being Rare) and the CEO/President of the E.WE Foundation shares her experience parenting a child with Trisomy 18 and the resources she created for fellow parents.
#276 Targeted DNA Methylation Sequencing with Wasatch BioLabs
Co-Founders Chad Pollard and Dr. Jonathon Hill share the importance of DNA methylation, intricacies of targeted sequencing, and future of epigenetic analysis.
#275 ALS Genetics with Dr. Patrick Short
CEO and Co-Founder of Sano Genetics shares about the genes that play a role in ALS development and the “Light The Way” free genetic testing program.
#274 Wolfram Syndrome with Stephanie Snow Gebel
Episode drop of “It Happened To Me” focusing on the rare disease Wolfram Syndrome.
#273 ENPP1 Deficiency Disorders with Inozyme
Inozyme’s Chief Scientific Officer Dr. Yves Sabbagh and Co-President of GACI Global Christine O’Brien share their insight on these conditions.
#272 Clinical Trials for One Patient with Dr. Joe Gleeson
Episode drop of N-Lorem’s “Patient Empowerment Podcast” discussing the importance of genomics for neurology.
#271 Genetic Optic Neuropathies with Dr. Andrew Carey
Episode drop of “It Happened To Me” exploring the genetics of rare optic neuropathies.