Learn how to build integrated workflows for rare disease diagnosis from PhenoTips’ Dr. Orion Buske and Charles Keenan.
#222 Wilson’s Disease with Naseem Amin
Naseem Amin, CEO of Orphalan, explores Wilson’s disease and current FDA-approved treatments.
#221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels
University of Cape Town student, Samantha Bayley, and professor, Tina-Marié Wessels, discuss the genetic counseling field in South Africa.
#220 Microfluidics with Franz Pruefer
Scientist and biotech engineer, Franz Pruefer, discusses the many applications of microfluidics.
#219 It Happened To Me Podcast: Genetic Counselors for Rare Diseases
Episode drop of “It Happened To Me” with Kira Dineen sharing how genetic counselors can help people with rare diseases.
#218 LEND Program with Betsy Humphreys, Karen Volle & Karina Mancini
Betsy Humphreys, Karen Volle and Karina Mancini share their experience with the New Hampshire-Maine Leadership Education Neurodevelopmental Disabilities (LEND) program.
#217 SynGAP1 with Mike Graglia and Elli Brimble
Patient advocate Mike Graglia and genetic counselor Elli Brimble discuss SynGAP1-related disorders.
#216 African American Ancestry with Nicka Smith
Pro genealogist Nicka Smith discusses direct to consumer DNA testing and its role in retracing African American Ancestry.
#215 Preventative Health via Whole Exome Sequencing
The Founder and CEO of Panacea discusses utilizing whole exome sequencing for preventive health.
#214 2022 Genetics Wrapped with Eric Green
NIH’s Eric Green discusses the top genetics and genomics headlines of 2022 with our host, Kira Dineen!
#213 Congenital Adrenal Hyperplasia and Gender with Sage Sargent
Sage Sargent, patient advocate for congenital adrenal hyperplasia, shares her experience as an intersex person with the condition.
#212 NSGC Recap 2022
Our reflection of the 41st annual National Society of Genetic Counselors conference including favorite sessions and what we learned in Nashville.
#211 Jorge Contreras on The Genome Defense
Author and law professor, Jorge Contreras, give an overview of his latest novel, The Genome Defense.
#210 Reproductive Medicine Family History with Tristan Hardy
Dr. Tristan Hardy provides an overview of reproductive medicine focusing on the relevant aspects of biological family health history.
#209 Aspects of Quality Genetic Testing with Blueprint Genetics
Dr. Kirsty Wells and Rachel Goldberg of Blueprint Genetics discuss aspects of quality genetic testing.
#208 The 100,000 Genomes Project with Dr. Julian Barwell
Dr. Julian Barwell shares insight on the 100,000 Genomes Project and how digital pedigrees are essential to the project and healthcare.
#207 N-Lorem: Dr. Sessions Cole on the Diagnostic Odyssey
The robust processes to evaluate applications to n-Lorem’s nano-rare patient treatments.
#206 Phenotypically-Driven Clinical Results with Dr. Lora Bean
Dr. Lora Bean, Senior Director of Quality Assurance at PerkinElmer Genomics, discusses the role that phenotypic data plays in analyzing genetic data.
#205 Multiple Sulfatase Deficiency with the United MSD Foundation
Amber Olsen and Faith McGown of the United MSD Foundation discuss Multiple Sulfatase Deficiency.
#204 Mosaicism with FUTR Podcast
FUTR Podcast Hosts Chris Brandt and Sandesh Patel interview our host Kira Dineen about mosaicism including the genetics of Calico cats and more.