Meet the team
Recent & Upcoming Talks
Newborn screening for pyridoxine-dependent epilepsy
This lecture will focus on newborn screening for PDE including data from pilot screening and how PDE meets Wilson Jungner screening criteria
Oct 3, 2023 10:00 AM
The time has come for newborn screening for pyridoxine-dependent epilepsy
This lecture will focus on the impact of neonatal treatment and developmental outcomes and new biomarkers for PDE-ALDH7A1. The lecture is prested by Drs. Coughlin, Tseng, and van Karnebeek on behalf of the
International PDE Consortium
Sep 1, 2022 12:45 PM
Freiburg im Breisgau, Germany
Pyridoxine-dependent epilepsy: Towards newborn screening
This lecture will focus on NBS for PDE. Drs. Laura Tseng and Curtis Coughlin will review data from the
and discuss how PDE meets the current criteria for NBS.
Jan 27, 2022 12:45 PM
Ethical issues in genomic consent for high risk patients
This platform presentatoin will focus on an ethical framework for genomic sequencing in the ICU. The ICIEM conference will be a hybrid conference.
Nov 21, 2021 12:45 PM
PDE is a treatable disorder of lysine metabolism
This webinair will focus on lysine reduction therapies for PDE-ALDH7A1. The lecture is available to all GMDI members.
Oct 7, 2021 1:00 PM