Mitochondrial Medicine Research Group Laboratory

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The Mitochondrial Medicine Research Group works to improve clinical care, diagnostic approaches, and robust genomic and bioinformatics resources for mitochondrial disease.  In particular, the group organizes the global Mitochondrial Disease Sequence Data Resource (MSeqDR) consortium to provide centralized curation and analytic capabilities for genomic analysis tools and integrated knowledge of genes, variants, and phenotypes relevant to mitochondrial disease. 

The Mitochondrial Medicine Research Group Lab also works to discover and validate novel genetic causes of mitochondrial disease, develop robust informatics resources to support genetic and clinical research investigations in mitochondrial disease, and directs multiple clinical trials, including phase II/III treatment trials, in mitochondrial disease patients. 

The lab is led by Marni Falk, MD, a clinical geneticist who serves as executive director of the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia. Dr. Falk is the principal investigator of an active National Institutes of Health, pharma, and philanthropic-funded translational research laboratory that investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction. 

Project Highlights

  • Modeling primary and secondary respiratory chain disease mechanisms and therapies across evolutionary distinct species (C. elegans, Zebrafish, Human patient cells)
  • High throughput drug screening in mitochondrial disease models
  • N-glycosylation of mitochondrial proteins
  • Genetic disease discovery and functional validation
  • Nanosensor detection of mitochondrial functions in living systems
  • Bioenergetic characterization and new test development for mitochondrial disease
  • Clinical studies and trials in primary mitochondrial disease
  • Large data approaches to investigate clinical, genetic and biochemical characteristics of primary mitochondrial disease
Leader

Marni J. Falk, MD

Executive Director, Mitochondrial Medicine Frontier Program
Dr. Falk is a Clinical Geneticist who serves as executive director of the Mitochondrial Medicine Frontier Program. Her translational research lab investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction.