The cost of a delayed diagnosis: Prioritizing neonatal treatment for PDE
This lecture will focus on current and future treatments for PDE-ALDH7A1
Glycine encephalopathies
History and nosology of glycine encephalopathy
Protecting Patient Confidentiality in a Family-Based Care Model: Ethical and Legal Considerations
This session will focus cascade genetic testing. Dr. Coughlin will discuss privacy vs confidentinally using a virtue ethics framework.
GA1: How natural history studies support the development of new treatments
GA1 webinar led by the Coughlin Lab
PDE-ALDH7A1 consensus guidelines and current advances in treatment
PDE-ALDH7A1 confernece at Oslo Univeristy Hospital
![It’s All About the Vitamins [B]aby! featured image](/events/acmg_2025/featured_hu_9e4e42b873bb08f4.webp)
It’s All About the Vitamins [B]aby!
This ACMG webinar focuses on treatable metabolic disorders
When everyday counts: Neonatal treatment for pyridoxine-dependent epilepsy.
Dr. Coughlin discusses current treatment of PDE-ALDH7A1
Scientist and Ethicist Dr. Curtis Coughlin on helping kids with rare diseases
Dr. Coughlin joins members of the Science Bridge Podcasts.
HCU America - Episode 36 with Dr. Curtis Coughlin
Dr. Coughlin joins Ben to discuss homocystinuira and genetic testing.