Navigating Rare Disease Advocacy: The CurePDE Journey
Dr. Coughlin joins members of CurePDE to discuss PDE-ALDH7A1.
Pyridoxine-dependent epilepsy: Diagnosis, new therapies, and potential newborn screening
Dr. Coughlin discussed PDE-ALDH7A1 the XIII Congress for SLEIMPN
Dietary management for pyridoxine-dependent epilepsy
Dr. Coughlin joins members of the PDE Consoritum to discuss PDE-ALDH7A1.
CRISPR Panel discussion
Dr. Coughlin joins a panel to dicuss ethical issues and CRISPR
Newborn screening for pyridoxine-dependent epilepsy
Dr. Coughlin discusses newborn screening and PDE-ALDH7A1.
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.