A fortnightly podcast where authors discuss findings from recent papers and share the stories behind their work
The JIMD Podcast was started as a lockdown project by Dr. James Nurse. It may have started as a hobby, but it has grown into a valuable resource for the IEM community. I have enjoyed listening to friends and colleagues talk about their work, although it is not quite the same as catching up at the pub.
In early 2021, JIMD and James invited us to do a podcast focused on the recent PDE-ALDH7A1 consensus guidelines (available wherever you pod: ). It was fun to get together and talk about PDE with Peter Clayton and Emma Footitt. And our episode had the third most URL clicks on twitter! Make sure to listen to our podcast and to follow JIMD and James Nurse for even more content.
- Pyridoxine-dependent epilepsy: Current perspectives and questions for future research
- Newborn screening for pyridoxine-dependent epilepsy
- Pyridoxine Dependent Epilepsy (PDE): Overview, New Treatments, and the potential for Newborn Screening
- Association between lysine reduction therapies and cognitive outcomes in patients with pyridoxine-dependent epilepsy
- The time has come for newborn screening for pyridoxine-dependent epilepsy