Podcast Episodes
Ep. 011 - 12,000 Years of Care: Lessons from Romito Cave
Rare diseases are often framed as modern medical mysteries, but the story of Romito Cave in Italy reminds us that they have been part of the human experience for millennia. On this Rare Disease Day, we honor the 300 million people worldwide living with a rare condition.
No episodes match your selection.
Ep. 010 - Adverse Events Following Vaccines
Today's rare disease discussion focuses on severe adverse events following vaccination — a truly rare occurrence. Vaccination is ultimately an act of both personal protection and community care.
Ep. 009 - The Finish Line is Finally in View
On October 1st, Camp4 Therapeutics reached a pivotal milestone. In today's podcast, I walk you through the drug development process using Syngap1 as our lens. Stay hopeful. Stay realistic. And keep those fingers crossed.
Ep. 008 - Elevidys
Today's podcast is about the Elevidys rollercoaster of the past 2 weeks. Risk-benefit analysis is a bear the rare disease community, regulators, and the pharmaceutical industry constantly wrestle with. The best analysis happens when all the data is disclosed and discussed.
Ep. 007 - The (Impressive) 2025 ASGCT
Today's podcast is about how impressive the ASGCT conference was this year! Beyond the huge news, there were also 4 abstracts on Syngap1. The Syngap1 space is heating up and has the First-in-Human milestone in sight!
Ep. 006 - Learning Lessons from Saddest Outcomes
Today's podcast is about learning lessons from the saddest outcomes. As a rare disease Dad, physician, and teammate in drug development, I want to share my 2 cents in the hopes it helps.
Ep. 005 - Transition from Pediatric to Adult Care
At some point, you and the pediatrician need to plan transferring care of your 'little' loved one to a healthcare provider who manages adults. Talk about it, plan it, and passing your care from one provider to the next shouldn't let you down.
Ep. 004 - Today it's ICD-11!
ICD-11 will be the worldwide standard in coming years so get in now — it'll be easier than you think! While Syngap is indexed to LD90.Y, we have a permanent Unique Identifier here: id.who.int/icd/entity/1830660574
Ep. 003 - ICD-10
Podcast #3 takes a trip down memory lane with ICD-10. Keep fighting for your code! You deserve it! Hope you enjoy the listen and please feel free to reach out!
Ep. 002 - Covering Goals
In covering goals I have more on my son and Syngap1. Finding a balance between managing expectations and aiming for a cure! Hope you enjoy the listen.
Ep. 001 - Starting Down the Path
Hello! I'm a rare disease Dad and doctor who can't help himself to talk about rare diseases. Hopefully I touch upon a topic of your interest but please feel free to drop me a line.