2nd Annual Precision Mitochondrial Medicine Symposium

Date:
Sep 20, 2021 from 10 a.m. - 4:30 p.m. (ET)

Summary

Primary mitochondrial diseases share an impaired ability to generate energy.  Highly heterogeneous in etiology and phenotypes, primary mitochondrial diseases are collectively the most common inherited metabolic disorder and affect at least 1 in every 4,300 individuals. Now recognized to result from pathogenic variants in any of several hundred different genes, mitochondrial disease can be difficult to diagnosis, is often misdiagnosed, and may be challenging to manage given the multi-system involvement. However, there have emerged consensus management guidelines to standardize and improve patient outcomes.

This symposium will focus on clinical research updates and discussion of approaches to optimizing outcomes by providing multi-disciplinary family support services. Sessions will include presentations and discussions with multiple mitochondrial disease clinicians and subspecialist experts in addition to a lunch panel with mitochondrial disease patients directly sharing their stories and experiences, and world leaders in Mitochondrial Medicine.

Symposium agenda

Morning session: mitochondrial disease clinical care and research

10:00 – 10:10 a.m. - Welcome and introduction

  • Marni Falk, MD, Executive Director and Attending Physician, Mitochondrial Medicine Frontier Program (MMFP), Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

10:10 – 10:40 a.m. - Mitochondrial Medicine Frontier Program origins, mission, and updates

  • Marni Falk, MD, Executive Director and Attending Physician, Mitochondrial Medicine Frontier Program (MMFP), Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

10:40 – 11:10 a.m. - Clinical care metrics, activities, and access

11:10 – 11:40 a.m. - Clinical research updates: natural history, outcome measure validation, and range of clinical research programs

11:40 – 12:10 p.m. - Clinical treatment trials updates

12:10 – 12:50 p.m. - Live panel discussion and Q&A of session speakers

12:50 – 1:00 p.m. Break

Lunch session: family perspective

1:00 - 1:40 p.m. - Lunch interview session with mitochondrial disease families who participate in CHOP MMFP clinical care and clinical research

  • Chair: Amy Goldstein, MD, Clinical Director, MMFP; Associate Professor Perelman School of Medicine at the University of Pennsylvania

1:40 – 1:50 p.m. - Break

Afternoon session: supporting mitochondrial disease patients and families

1:50 – 2:15 p.m. - Neuropsychologic problems and management options for mitochondrial disease

2:15 – 2:40 p.m. - Developmental disability in mitochondrial disease: delineating the problem and developing effective strategies

  • Laura Adang, MD, PhD, Attending Physician, Instructor of Pediatrics, Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

2:40 – 3:05 p.m. - Motor developmental delay and disability in mitochondrialdisease: assessments and treatment strategies

3:05 – 3:30 p.m. - Psychosocial challenges in living with mitochondrial diseases: coping strategies

  • Kathy Valverde, PhD, MS, LCGC, Genetic Counseling Program Director, UPENN

3:30 – 3:55 p.m. - Social work challenges and opportunities to support mitochondrial disease families

3:55 – 4:20 p.m. - Live panel discussion and Q&A of session speakers

  • Chair: Rebecca Ganetzky, MD, Assistant Professor, Attending Physician, and Diagnostic Lab Director, MMFP; Assistant Director, Metabolic and Advanced Diagnostics; Program Director, Medical Biochemical Genetics; Training Director, Clinical Biochemical Genetics; Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

4:20-4:30 p.m. - Summary of CME day and feedback session

  • Marni Falk, MD, Executive Director and Attending Physician, Mitochondrial Medicine Frontier Program (MMFP), Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

4:30 p.m. - Adjourn

Evening session (non-CME)

Connecting Pharma and Families in Therapeutic Development Strategy for Mitochondrial Disease

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ACCME Accreditation Statement: Children’s Hospital of Philadelphia is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

AMA Credit Designation Statement: Children's Hospital of Philadelphia designates this live activity for a maximum of 6.00 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Related specialties: genetics, general pediatrics