Ethical Considerations for Returning Clinical Genomic Results from a Population Biobank
Dr. Coughlin joins a panel dicussion on Biobanks and return of results.
Pyridoxine Dependent Epilepsy (PDE): Overview, New Treatments, and the potential for Newborn Screening
This lecture highlights therapeutic advances for this rare but treatable disorder
The time has come for newborn screening for pyridoxine-dependent epilepsy
his lecture will focus on the impact of neonatal treatment and developmental outcomes and new biomarkers for PDE-ALDH7A1.
Pridoxine-dependent epilepsy: Towards newborn screening
This lecture will focus on NBS for PDE and the current criteria for NBS.
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.
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.
Pyridoxine-dependent epilepsy
Dr. Coughlin joins members of the PDE Consoritum to discuss PDE-ALDH7A1.