Marni Joy Falk, MD
Professor of Pediatrics (Human Genetics) at the Children's Hospital of Philadelphia
Attending Physician, Divisions of Human Genetics and Metabolism, Department of Pediatrics, The Children's Hospital of Philadelphia
Organizer and Co-director, Ophthalmology-Genetics Clinic, The Children’s Hospital of Philadelphia
Attending Physician, Monthly General Genetics Clinic, The Children’s Hospital of Philadelphia
Director and Attending Physician, Twice-Monthly Mitochondrial-Genetics Diagnostic Clinic, Divisions of Human Genetics and Metabolism, The Children’s Hospital of Philadelphia
Attending Physician, Section of Genetics, Department of Neonatology Hospital of the University of Pennsylvania
Founding Member, Center for Mitochondrial and Epigenomic Medicine (CMEM), The Children’s Hospital of Philadelphia
Executive Director, Mitochondrial Medicine Center and Frontier Program, The Children’s Hospital of Philadelphia
Program Director and Research Director, Mitochondrial Medicine Clinical Fellowship, The Children’s Hospital of Philadelphia
Department: Pediatrics
Graduate Group Affiliations
Contact information
The Children's Hospital of Philadelphia
ARC 1002c
3615 Civic Center Blvd
Philadelphia, PA 19104
ARC 1002c
3615 Civic Center Blvd
Philadelphia, PA 19104
Office: 267-426-4961
Fax: 267-426-2876
Lab: 215-590-9951
Fax: 267-426-2876
Lab: 215-590-9951
Email:
falkm@email.chop.edu
falkm@email.chop.edu
Education:
BS (Biology)
The George Washington University, 1996.
MD (Medicine)
The George Washington University School of Medicine, 2000.
Permanent linkBS (Biology)
The George Washington University, 1996.
MD (Medicine)
The George Washington University School of Medicine, 2000.
Description of Research Expertise
Mitochondrial disease; Genetic basis of Mendelian disease; C. elegans models of mitochondrial disease and therapyDescription of Clinical Expertise
Mitochondrial Disease; Ophthalmologic Genetic Disease; Clinical GeneticsSelected Publications
Falk MJ: Small molecule hypoxia therapy in mitochondrial disease. Cell 188, March 2025 Notes: https://doi.org/10.1016/j.cell.2025.02.019.Ganetzky R, Stanley KD, MacMullen LE, George-Sankoh I, Goldstein A, Xiao R, Falk MJ: Recognizing the Evolution of Clinical Syndrome Spectrum Progression in Individuals with Single Large-Scale mitochondrial DNA deletion syndromes (SLSMDS). Genetics in Medicine 19(101386), February 2025 Notes: doi: 10.1016/j.gim.2025.101386.
George-Sankoh I, MacMullen LE, Chinwalla AT, Taylor D, Ganetzky RD, Stanley K, McCormick EM, Zolkipli-Cunningham Z, Falk MJ: MMFP-Tableau: Enabling Precision Mitochondrial Medicine through Integration, Visualization, and Analytics of Clinical and Research Health System Electronic Data. JAMAIA Open 7(5), December 2024 Notes: https://doi.org/10.1093/jamiaopen/ooae134
Lavorato M, Iadarola D, Remes C, Kaur P, Broxton C, Mathew ND, Xiao R, Seiler C, Nakamaru-Ogiso E, Anderson VE, Falk MJ: dldhcri3 zebrafish exhibited altered mitochondrial ultrastructure, morphology and dysfunction partially rescued by probucol or thiamine. JCI Insight Online ahead of print, August 2024 Notes: doi: 10.1172/jci.insight.178973.
Boris JR, Shadiack EC, McCormick EM, MacMullen L, George-Sankoh I, Falk MJ: The Long Term POTS Outcomes Study (LT-POTS): Diagnosis, Therapy, and Clinical Outcomes. J Am Heart Assoc 16(13): 14, July 2024 Notes: doi: 10.1161/JAHA.123.033485.
Lanvin PL, Li D, Conrad S, Magot A, Micaelli X, Péréon Y, Vincent M, Isidor B, Sternberg D, McCormick EM, Hakonarson H, Mercier S, Falk MJ: Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report. Neurol Clin Pract 14(3), June 2024.
MacMullen LE, George-Sankoh I, Stanley K, McCormick EM, Muraresku CC, Goldstein A, Zolkipli-Cunningham Z, Falk MJ: Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine. Mol Genet Metab 142(1), May 2024.
Sharma S, Magnitsky S, Reesey E, Schwartz M, Haroon S, Lavorato M, Chan S, Xiao R, Wilkins BJ, Martinez D, Seiler C, Falk MJ: Novel Development of Magnetic Resonance Imaging to Quantify the Structural Anatomic Growth of Diverse Organs in Adult and Mutant Zebrafish. Zebrafish 21(1): 28-38, February 2024.
Shen L, Falk MJ, Gai X. MSeqDR Quick-Mitome (QM): Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis. Curr Protoc 4(1), January 2024.
Kilich G, Hassey K, Behrens EM, Falk M, Vanderver A, Rader DJ, Cahill PJ, Raper A, Zhang Z, Westerfer D, Jadhav T, Conlin L, Izumi K, Rajagopalan R, Sullivan KE; UDN Consortium: Kagami Ogata syndrome: a small deletion refines critical region for imprinting. NPJ Genom Med 9(1), January 2024.