After discovering she’s a carrier for Congenital Myasthenic Syndromes, host Kira Dineen sought out to learn more. She met a leading expert in CMS, Dr. Hanns Lochmüller.
All tagged carrier screening
#282 The Evolution of Caring for Females With OTC Deficiency
Exploring the evolution of caring for females with Ornithine Transcarbamylase Deficiency with Drs. Annette Feigenbaum and Joshua Baker.
#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.
#267 Is Genetic Ancestry Useful for Carrier Screening?
Prenatal Genetic Counselor Blair Stevens provides insight on if we should continue utilizing genetic ancestry in the context of carrier screening.
#251 Diversifying Genetic Research with 23andMe
Drs. Anjali Shastri and Ruth Tennen, of 23andMe, explore an important issue in healthcare, diversifying genetic research with a focus on sickle cell disease.
#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.
#180 Reproductive DNA Testing with Mitera
Chief Medical Officer of Mitera, Dr. Kathy Salari, discusses reproductive genetic testing including non-invasive prenatal screening and carrier screening.
#157 NSGC 2021 Recap
Laura Hercher covers the Texas SB 8 abortion law and its impact on genetic counseling . Sally Rodríguez shares insight on the racial disparities in carrier screening.
#152: Janice Berliner on Brooke's Promise
Genetic counselor and author Janice Berliner shares about the fertility and pediatric genetic counseling aspects in her novel, Brooke’s Promise.
#135 NSGC 2020 Recap
Highlights, discussion and tips from the virtual 2020 NSGC Conference.
#133 DTC Series: Melanie Hardy on Carrier Screening
JScreen genetic counselor shares insight on carrier screening including conditions more common in the Ashkenazi Jewish community.
#129 DTC Series: Picture Genetics on At-Home, Physician-Mediated, Genetic Testing
Lab Director Dr. Samuel Strom and Genetic Counselor Jessica Shiles share their insights about 4 Picture Genetics testing kits.
#119 Infertility Series: Lauren Isley on Fertility Genetic Counseling
A genetic counselor shares about Artificial Reproductive Technologies (ARTs) including In Vitro Fertilization (IVF), Preimplantation Genetic Testing (PGT), and more.
#59 Scott Weissman on Genetic Counseling Private Practice
Discuss the subfields of genetic counseling cardiogenetics, hereditary cancer genetics, direct-to-consumer tests and carrier screening.