Mitochondrial Medicine Education Day

Sep 18, 2023 from 9 a.m. - 4:30 p.m. (ET)

Join us for the 4th annual Mitochondrial Medicine Education Day as we explore recent advances in mitochondrial disease diagnostic testing, clinical trials and complex care management. You’ll hear from experts in the field, as well as families as they share their stories.

Children’s Hospital of Philadelphia (CHOP) is hosting this full-day virtual event for clinicians, researchers and others who care for patients with complex mitochondrial disorders. Speakers will include world-renowned mitochondrial disease clinicians and researchers from CHOP, the University of Pennsylvania and other organizations.

This event will be split into 3 sessions covering a multitude of topics related to:

  • Diagnostics and monitoring tests in primary mitochondrial disease
  • Precision clinical trials and outcome measures in mitochondrial disease
  • Complex care management in mitochondrial disease

Our keynote speaker, Marni Falk, MD, executive director of the Mitochondrial Medicine Frontier Program at CHOP, will share an overview of the current landscape of precision therapy in mitochondrial disease and future opportunities. A full agenda is listed below. Make your plan to join us online Sept. 18!

Register Today

NOTE: This is a virtual event. A link to join the event on BlueJeans will be sent after registration.

Event agenda

9 a.m. Welcome and Opening Remarks
Matthew M. Demczko, MD

Session I: Diagnostics & Monitoring Tests in Mitochondrial Disease

Moderator: James T. Peterson, MS, LCGC

9:10 a.m. Overview of Diagnostic and Monitoring Tests in Mitochondrial Disease
Colleen Clarke Muraresku, MS, LCGC

9:30 a.m. Biochemical Diagnostics & Monitoring Assays in Mitochondrial Disease
Rebecca Ganetzky, MD, DABMG

9:50 a.m. Genomic Diagnostics in Mitochondrial Disease
Jing Wang, MD, FACMG, ASCP (MB)

10:10 a.m. Research Options for Undiagnosed Patients
Elizabeth M. McCormick, MS, LCGC

10:20 a.m. Session I Panelists Q & A
Moderated by James Peterson MS, LCGC; includes Session I speakers for live Q&A


Session II: Precision Clinical Trials and Outcomes Measures in Mitochondrial Disease

Moderator: Amy Goldstein, MD

11:10 a.m. Development of Precision Therapies in Mitochondrial Disease: Current Landscape and Future Opportunities
Keynote Speaker: Marni Falk, MD

11:40 a.m. Validated Outcome Measures of Mitochondrial Disease in Clinical Research and Precision Clinical Trials
Zarazuela Zolkipli-Cunningham, MBChB, MRCP

Noon Natural History Studies in Mitochondrial Disease
Laura E. MacMullen, MPH, CCRC

12:20 p.m. Clinical Drug Trials Landscape in Mitochondrial Disease
Sara Nguyen, BS-MPH

12:40 p.m. Precision IND Utilization in Mitochondrial Disease
Katelynn Stanley, BS

1 p.m. Lunch Session: Patient Panel
Moderated by Amy Goldstein, MD

1:30 p.m. Session II: Panel Q & A
Moderated by Amy Goldstein, MD; includes Session II speakers for live Q&A


Session III: Complex Care Management in Mitochondrial Disease

Moderator: Cassandra A. Pantano, MSN, CRNP-AC, CPN

2:10 p.m. Complex Care Coordination in Mitochondrial Disease at CHOP
Amy Goldstein, MD

2:30 p.m. Compound Medication Use in Mitochondrial Disease
Vince Canzanese, Summit Pharmacy

2:50 p.m. Community Hospital Partners with CHOP: Providing Care Outside of Main Campus
Rajeev R. Shah, MD

3:10 p.m. Compass Care Clinic at CHOP
Annique Hogan, MD

3:30 p.m. Roundtable Discussion with Complex Care Pediatricians
Moderator: Matthew Demczko, MD

3:50 p.m. Session III Panel Q & A
Moderated by Cassandra A. Pantano, MSN, CRNP-AC; includes Session III speakers for live Q&A

4:10 p.m. Closing remarks
Matthew Demczko, MD


For more information or questions, please email Kacey Grinups at