#228 Trisomy 13 and Trisomy 18 with Divya Ramachandra
Update: One of our recurrent guests genetic counselor and fellow podcaster Laura Hercher had a couple important thoughts after listening to our episode we want to share. Laura has been a guest on Epi...
17 Mars 202338min
#227 Limb-Girdle Muscular Dystrophies with Louise Rodino-Klapac and Livija Medne
In this episode, we are exploring limb-girdle muscular dystrophy (LGMD). Joining us for this conversation are two experts, Dr. Louise Rodino-Klapac, and genetic counselor Livija Medne. Dr. Louise Ro...
10 Mars 202330min
#226 NICU Whole Genome Sequencing with Hong Li and Madhuri Hegde
Can rapid whole genome sequencing (WGS) be utilized in the NICU setting? We explore in this podcast episode! Joining us for this episode is Dr. Hong Li, a clinical geneticist at Emory University. O...
3 Mars 202345min
#225 Fetal Antigen Noninvasive Prenatal Testing (NIPT) with BillionToOne
Last episode we learned about non-invasive prenatal testing (NIPT) for recessive conditions through BillionToOne’s UNITY Screen. Jen Hoskovec, Senior Director of Medical Affairs at BillionToOne, is ba...
24 Feb 202337min
#224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne
In this episode we are learning about UNITY Screen non-invasive prenatal testing (NIPT) for recessive conditions. Joining our host Kira Dineen are two experts from BillionToOne, the CEO Oguzhan Atay a...
17 Feb 202337min
#223 PhenoTips: Rare Disease Diagnosis Workflow
Happy Rare Disease Month! With over 10,000 rare diseases, reaching a diagnosis is a long and arduous process for the 300 million people affected by a rare disease worldwide. Advancements in technology...
10 Feb 20231h 5min
#222 Wilson’s Disease with Naseem Amin
We are kicking off Rare Disease Month by talking about Wilson’s disease, a rare, inherited disorder that causes copper to accumulate in the liver, brain, and other vital organs. It is inherited in an ...
3 Feb 202339min
#221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels
In this episode we are chatting about the genetic counseling field in South Africa! Joining us for this discussion are two guests from the University of Cape Town (UTC), current student, Samantha Bayl...
27 Jan 202339min
