Advancing Research and Care: Propionic Acidemia Conference 

This event brings together leading researchers, healthcare professionals, and families affected by this rare metabolic disorder. Our goal is to foster collaboration, share groundbreaking research, and explore innovative treatments that can transform lives. Together, we can make a difference and pave the way for a brighter future for those living with propionic acidemia.

Program

Friday, July 11 – 4:00-7:30 PM

4:00-7:30 PM Registration, light dinner, parent panel, introduction to our Transition Guide (by Abigail Kapoor), discussion and opportunity to visit exhibitors

Saturday, July 12 – 8:30 AM-4:00 PM

8:30-9:00 AM Registration / Exhibits Open

9:00-9:15 AM Welcome/Introductions

9:15-10:00 AM PA Overview/Research Charles P. Venditti MD, PhD, NHGRI, NIH

10:00-10:30 AM Break – Meet other families and visit exhibitors

10:30-11:15 AM Metabolic insights into PA: pathological mechanisms and emerging therapeutic strategies, Guofang Zhang, PhD, Duke University

11:15-11:45 PM TBD

11:45-1:00 PM Lunch

1:00-1:15 PM Cardiovascular Pathology in PA Across Zygosity Type, Bart Bijnens, MSc, PhD, ICREA and Devyani Chowdhury, MD, MHA Cardiology Care for Children

1:15-1:30 PM Electrophysiological Abnormalities in PA: ECG Analysis Across Genotypes, Carla Leal, BCN, Medtech group Physense

1:30-1:45 PM Machine Learning-Based Electrocardiographic Analysis to Characterize the Cardiac Phenotype in PA, Carla Leal, BCN, Medtech group Physense

1:45-2:30 PM Developing Medicines to Treat Liver Stop Codon Disease, Nerissa C. Kreher, MD, CMO, alltrna

2:30-3:00 PM Break – Meet other families and visit exhibitors

3:00-3:45 PM mRNA-3927 for PA: Aggregate Interim Results of Ph 1/2 and Long-Term Extension Trials, Rosa Real, MD, Moderna

3:45-4:00 PM Wrap up

*Program subject to change

A limited number of no-cost Echocardiograms and EKGs for the patients and families with PA will be available. To schedule, contact Daniela at 717-925-8300.

For questions related to abstract preparation or submission, please contact PAF at paf@pafoundation.com. Conference registration is free for affected individuals and their families, researchers, and medical professionals.

Sponsorship opportunities available – contact paf@pafoundation.com for more information.