Scientific Program

View Video UMDF: Celebrating 25 Years – Brian Harman, UMDF President & CEO
View Video UMDF Impact - Philip Yeske, PhD, UMDF Science & Alliance Officer
View Video Big Pitch Accelerator Grant Program
View Video Clinical Trials Panel #1 Discussion – Magali Taiel, MD, Gensight Biologics; Natalie Yivgi Ohana, PhD, Minovia Therapeutics; Matthew Klein, MD, MS, FACS, PTC Therapeutics; and Peter Stacpoole, PhD, MD, University of Florida
View Video Clinical Trials Panel #2 Discussion – Magnus Hansson, MD, PhD, Abliva; Fernando Scaglia, MD, Baylor College of Medicine; Chris Winrow, PhD, Cyclerion Therapeutics; and Jan Smeitink, MD, PhD, Khondrion
View Video Clinical Trials Panel #3 Discussion – Gerard Marek, MD, PhD, Astellas Pharma; Alex Dorenbaum, MD, Reneo Pharmaceuticals; Jim Carr, PharmD, Stealth BioTherapeutics; and Joanne Quan, MD, Zogenix
View Video Genetic Testing Panel Discussion – Arnold Gammaitoni, PharmD, Zogenix; Sean Hofherr, PhD, FACMG, GeneDX; Lukas Lange, PhD, Probably Genetic; Elizabeth McCormick, MS, CGC, Children’s Hospital of Philadelphia, Philadelphia, PA; and Doreen Casali, Adult Mito Patient/UMDF Ambassador
View Video UMDF Supported Infrastructure Panel Discussion – Michio Hirano, MD, North American Mitochondrial Disease Consortium (NAMDC); Amel Karaa, MD, Treat Mito; Sumit Parikh, MD, Mitochondrial Care Network (MCN); and Marni Falk, MD, Mitochondrial Disease Sequence Data Resource (MSeqDR)

Thursday, June 24 – 6:00pm-7:30pm EDT

Watch Evening of Energy Here>>

Hosted by Brian Harman, UMDF President & CEO, and Philip Yeske, PhD, UMDF Science & Alliance Officer

UMDF invites you to a special virtual event as we honor our mitochondrial medicine heroes and celebrate our 25th Anniversary. The evening will be highlighted by a conversation with past recipients of the UMDF Vanguard Award as they share their perspectives on 25 years of progress and what the future holds for the mitochondrial disease community.

Interested in watching the expanded version of the conversation with our UMDF Vanguard Award Recipients, click the Watch Here below.

Watch Here

Special Guests – UMDF Vanguard Award Recipients

2013 – Salvatore “Billi” DiMauro, MD - Columbia University (special video message)

2014 – Chuck Hoppel, MD - Case Western Reserve University

2015 – Douglas Wallace, PhD - Children’s Hospital of Philadelphia

2016 – Richard Haas, MD - Rady Children’s Hospital/UC San Diego School of Medicine

2018 – Larry Grossman, PhD - Wayne State University

2019 – Bruce Cohen, MD - Akron Children’s Hospital



Watch Here

12:00pm Mitochondria and Metabolism Platform – Part 1
Session Moderator:  Brett Kaufman, PhD, University of Pittsburgh, Pittsburgh, PA

  • Mitochondrial Systems Biochemistry
    Dave Pagliarini, PhD, Washington University School of Medicine, St. Louis, MO
  • Targeting Cancer Asparagine Dependence
    Heather Christofk, PhD, University of California Los Angeles, CA
  • TCA Cycle Fuels and Fluxes
    Josh Rabinowitz, MD, PhD, Princeton University, Princeton, NJ

           Three 30-minute presentations with Live Q&A


1:30pm Abstract Presentations with Live Q&A

  • Synthetic Messenger RNA Rescues Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Fibroblasts from Patients and a Murine Model, Xuejun Zhao
  • Maladaptive Nutrient Signaling Sustains the m.3243A>G mtDNA Mutation, Chih-Yao Chung
  • The gnomAD Database of Mitochondrial DNA Variation from 56,434 Individuals, Sarah Calvo
Watch Here

12:00pm Mitochondria and Metabolism Platform – Part 2
Session Moderator:  Carla Koehler, PhD, University of California Los Angeles, Los Angeles, CA

  • Mitochondria in Alzheimer’s Disease: It's Not What You Think
    Eric Schon, PhD, Columbia University, New York, NY
  • Mitochondria, Metabolism and Cellular Decisions
    Jared Rutter, PhD, University of Utah, Salt Lake City, UT
  • Shedding Light on Mechanisms of Mitochondrial Brain Diseases
    Anu Suomalainen-Wartiovaara, MD, PhD, University of Helsinki, Finland

           Three 30-minute presentations with Live Q&A


1:30pm Abstract Presentations with Live Q&A

  • A Cardiolipin-Binding Peptide Improves Cellular Bioenergetics in Mitochondrial Trifunctional Protein (TFP)-Deficient Mice and Patient Fibroblasts, Meicheng Wang
  • Mitochondrial Protein Import Clogging as a Mechanism of Disease, Liam Coyne
  • SLC25A46 Organizes a Platform for Mitochondrial Membrane Dynamics and Lipid Remodeling, Jana Schuettpelz
Watch Here

12:00pm Gene Therapy/Gene Editing Platform
Session Moderator:  Giovanni Manfredi, MD, PhD, Weill Cornell Medicine, New York, NY

  • Progress on Gene Therapy for mtDNA Diseases
    Carlos Moraes, PhD, University of Miami, Miami, FL
  • Gene Therapy for SURF1-related Leigh Syndrome
    Steven Gray, PhD, University of Texas Southwestern Medical Center, Dallas, TX
  • Towards Gene Therapy for Leigh Syndrome
    Mickael Decressac, PhD, Grenoble Institute of Neuroscience (GIN), France

           Three 30-minute presentations with Live Q&A


1:30pm Abstract Presentations with Live Q&A

  • Modulation of the Nuclear Epigenome as a New Strategy for Mitochondrial DNA Heteroplasmy Shift, Lia Mayorga
  • Assessment of Lenadogene Nolparvovec (rAAV2/2-ND4) Gene Therapy Efficacy in Leber Hereditary Optic Neuropathy Using an External Control Group, Mark Moster
  • Gene Replacement Therapy for SURF1-Related Leigh Syndrome Using AAV9, Qinglan Ling
Watch Here

12:00pm Mitochondria in Stress Platform
Session Moderator:  Robert K. Naviaux, MD, PhD, University of California San Diego, La Jolla, CA

  • Mitochondrial Behavior
    Jodi Nunnari, PhD, University of California Davis, Davis, CA
  • Hypoxia as a Therapy for Mitochondrial Disease
    Vamsi Mootha, MD, Harvard Medical School, Boston, MA
  • Mitochondrial Control of Innate Immunity and Inflammation
    Phillip West, PhD, Texas A&M University College of Medicine, Bryan, TX

           Three 30-minute presentations with Live Q&A


1:30pm Abstract Presentations with Live Q&A

  • Characterization of Two Variants in the Mitochondrial Topoisomerase Gene TOP1MT Reveal a Potential Involvement in Human Pathology, Iman Al Khatib
  • Identification of Novel Compounds to Treat Rare Mitochondrial Diseases, Arwen Gao
  • Vaccine Hesitancy toward the COVID19 Vaccine and Attitudes toward Ring Vaccination by Caregivers of Children with Mitochondrial Disease, Eliza Gordon-Lipkin
Meet the Faculty

Event Resources

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