Marni Falk, MD

Marni Falk, MD

Marni Falk, MD, is an attending physician and Executive Director of the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia.

Areas of Expertise: Mitochondrial disease, Clinical genetics, Translational research
Locations: Main Campus
Phone: 267-426-4961

Email: Falkm@email.chop.edu

Education and Training

Medical School

MD - The George Washington University School of Medicine, Washington, DC

Residency

Combined Residency Program in Pediatrics and Medical Genetics - University Hospitals of Cleveland & Case Western Reserve University, Cleveland, OH

Additional Training

NIH Summer Research Program Intern in Dept. Transfusion Medicine - NIH, Bethesda, MD
44th Annual Short Course in Medical & Experimental Mammalian Genetics - The Jackson Laboratory, Bar Harbor, ME
Clinical Research Scholar - CASE School of Medicine and Cleveland Clinic Foundation
Physician Leadership Course - Children’s Hospital of Philadelphia, Philadelphia, PA

Board Certification

Clinical Genetics
Pediatrics

Titles and Academic Titles

Attending Physician

Executive Director, Mitochondrial Medicine Frontier Program

Associate Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

Conditions Treated

Departments and Services

Publications

Papers

2018

Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ. USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet. 2018 Oct 1;27(19):3305-3312. doi: 10.1093/hmg/ddy231.

McCormick EM, Zolkipli-Cunningham Z, Falk MJ. Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. Curr Opin Pediatr. 2018 Sep 7.[Epub ahead of print]

Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick E, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ. USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet. 2018 Jun 18. doi: 10.1093/hmg/ddy231. [Epub ahead of print]

Muraresku CC, McCormick EM, Falk MJ. "Mitochondrial Disease: Advances in Clinical Diagnosis, Management, Therapeutic Development, and Preventative Strategies. Current Genetic Medicine Reports. 2018 May.

Zolkipli-Cunningham Z, Xiao R, Stoddart A, McCormick EM, Holberts A, Burrill N, McCormack S, Williams L, Wang X, Thompson JLP, Falk MJ. Mitochondrial disease patient motivations and barriers to participate in clinical trials. PLoS One. 2018 May 17;13(5):e0197513. doi: 10.1371/journal.pone.0197513.

Shen L, Attimonelli M, Bai R, Lott MT, Wallace DC, Falk MJ, Gai X. MSeqDR mvTool: a Mitochondrial DNA Web and API Resource for Comprehensive Variant Annotation, Universal Nomenclature Collation, and Reference Genome Conversion. Human Mutation, 2018. Mar 14. doi: 10.1002/humu.23422. [Epub ahead of print]. PMID: 29539190.

Ganetzky RD, Falk MJ. Microvascular endothelial dysfunction in mitochondrial stroke-like episodes supports use of intravenous L-arginine. Mol Genet Metab Reports, 2018. Mar 9;15:74. doi: 10.1016/j.ymgmr.2018.03.001. eCollection 2018 Jun. No abstract available. PMID: 29560315. PMC5857490.

Polyak E, Ostrovsky J, Peng M, Dingley SD, Tsukikawa M, Kwon YJ, McCormack S, Bennett M, Xiao R, Seiler C, Zhang Z, Falk MJ. N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease. Mol Genet Metab. 2018. 2018 Apr;123(4):449-462. doi: 10.1016/j.ymgme.2018.02.013. Epub 2018 Feb 23. PMID: 29526616. PMC5891356.

Al-Gadi I, Haas R, Falk MJ, Goldstein A, McCormack SE. Endocrine disorders in primary mitochondrial disease. Journal of the Endocrine Society. 2018. 2018 Feb 19;2(4):361-373. doi: 10.1210/js.2017-00434. eCollection 2018 Apr 1. PMID: 29594260. PMC5865537.

Ganetzky RD, Falk MJ. 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease. Mol Genet Metab. 2018 Feb 2. pii: S1096-7192(18)30061-1. doi: 10.1016/j.ymgme.2018.01.010. [Epub ahead of print]. PMID: 29428506. PMC29428506.

Xia Q, Lu S, Ostrovsky J, McCormack SE, Falk MJ, Grant SFA. PARP-1 inhibition rescues short lifespan in hyperglycemic C. elegans and improves GLP-1 secretion in human cells. Aging Dis. 2018 Feb 1;9(1):17-30. doi: 10.14336/AD.2017.0230. eCollection 2018 Feb. PMID: 29392078. PMCID: PMC5772855.

2017

Parikh S, Goldstein A, Karaa A… Falk MJ… et al (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genetics in Medicine.  doi:10.1038/gim.2017.107.  [Epub ahead of print].

Byrnes J, Ganetzky R, Lightfoot R, Tzeng M, Nakamaru-Ogiso E, Seiler C, Falk MJ (2017) Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish. Neurochem Int. pii: S0197-0186(17)30062-1. doi: 10.1016/j.neuint.2017.07.008. PMID: 28732770. PMCID: In progress by journal.

Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M… Falk MJ*, Metodiev MD*, Thorburn DR* (2017) Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.  Am J Hum Genet. 2017 101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005.  PMC5544391.

2016

Shen L, Diroma MA, Gonzalez M, Navarro-Gomez D, Leipzig J, Lott MT, Oven MV, Wallace DC, Muraresku CC, Zolkipli-Cunningham Z, Chinnery PF, Attimonelli M, Zuchner S, Falk MJ*, Gai X* (2016) MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Human Mutation. Feb 26. doi: 10.1002/humu.22974. PMC 4846568.

Falk MJ, Decherney A, Kahn JP (2016) Mitochondrial Replacement Techniques – Implications for the Clinical Community.  N Engl J Med.  Mar 24;374(12):1103-6. Doi: 10.1056/NEJMp1600893.  PMCID: PMC4936492.

2015

McCormack S, Polyak E, Ostrovsky J, Dingley SD, Rao M, Kwon YJ, Zhang Z, Nakamaru-Ogiso E, Falk MJ (2015) Pharmacologic targeting of sirtuin and PPAR signaling improves longevity and mitochondrial physiology in respiratory chain complex I mutant Caenorhabditis elegans.  Mitochondrion.  Mar 3. pii: S1567-7249(15)00026-4. doi: 10.1016/j.mito.2015.02.005.  PMCID: PMC4447550.

Peng M, Ostrovsky J, Kwon YJ, Polyak E, Licata J, Tsukikawa M, Marty E, Thomas J, Felix CA, Xiao R, Zhang Z, Gasser DL, Argon Y, Falk MJ (2015) Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease. Hum Molec Genet. Sep 1; 24(17):4829-47. Doi:10.1093/hmg/ddv207. PMC4527487.

Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen APM, Diroma MA, Yeske P, Bai R, Boles R, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry S, Copeland WC, Oven Mv, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X (2015) Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.  Molecular Genetics and Metabolism.  Mar;114(3):388-396.  PMID: 25542617.  PMCID: PMC4512182. 

2014

Dingley SD, Polyak E, Ostrovsky J, Srinivasan S, Icksoo L, Rosenfeld AB, Tsukikawa M, Xiao R, Selak MA, Coon JJ, Hebert A, Grimsrud P, Kwon YJ, Pagliarini D, Gai X, Schurr TG, Huttemann M, Nakamaru-Ogiso E, Falk MJ (2014) Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans.  Journal of Molecular Biology.  Feb 14. pii: S0022-2836(14)00075-8. doi: 10.1016/j.jmb.2014.02.009. PMC4067970.

Zhang Z, Falk MJ (2014) Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction.  Int J Biochem Cell Biol.  Feb 22;50C:106-111. doi: 10.1016/j.biocel.2014.02.012. PMCID: PMC4022474.

Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Guo Y, Tian L, Palmieri F*, Hakonarson H* (2014) AGC1 deficiency causes infantile-onset epilepsy, abnormal myelination, and reduced N-acetylaspartate.  Journal of Inherited Metabolic Disease.  14:77-85. PMC4213337.

2013

McCormick E, Place E, Falk MJ (2013) Molecular genetic testing for mitochondrial disease: From one generation to the next.  NeuroTherapeutics.  Apr;10(2):251-61. PMID: 23269497.  PMCID: PMC3625386.

Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA…..Pierce E, Meitinger T, Freisinger P*, Sperl W*, Prokisch H*, Alkuraya F*, Falk MJ*, Zeviani M* (2013) Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.  Am J Hum Genet.  Sep 5;93(3):482-95. doi: 10.1016/j.ajhg.2013.07.016.  PMC3769923.

Zhang Z, Tsukikawa M, Peng M, Polyak E, Nakamaru-Ogiso E, Ostrovsky J, McCormack S, Place E, Clarke C, Reiner G, McCormick E, Rappaport E, Haas R, Baur JA, Falk MJ (2013) Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network.  PLOS ONE.  Jul 24;8(7):e69282. doi: 10.1371/journal.pone.0069282. Print 2013. PMCID: PMC3722174.

2012

Schrier SA, Wong L-J, Place E, Ji JQ, Pierce EA, Golden J, Santi M, Anninger W, Falk MJ (2012) Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.  Discovery Medicine.  Feb;13(69): 143-50.  PMID 22369973.  PMCID: PMC3618896.

Falk MJ*, Zhang Q*, Nakamaru-Ogiso E, Kannabrian C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD...Liu Q, Gai X#, Pierce EA# (2012) NMNAT1 mutations cause Leber congenital amaurosis.  Nature Genetics.  Sep; 44(9):1040-5. doi:10.1038/ng.2361.  *, co-first authors.  PMC3454532.

Falk MJ, Pierce EA, Consugar M, Xie MH, Guadalupe M, Hardy O, Rappaport ER, Wallace DC, Leproust E, Gai X (2012) Mitochondrial Disease Genetic Diagnostics: Optimized whole exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.  Discovery Medicine. 14(79):389-99. PMCID: PMC3923327.

2011

Falk MJ, Polyak E, Zhang Z, Peng M, King R, Maltzman JS, Okwuego O, Horyn O, Nakamaru-Ogiso E, Ostrovsky J, Xie LX, Chen JY, Marbois B, Nissim I, Clarke CF, Gasser DL (2011) Probucol therapy ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice.  EMBO Molecular Medicine. Jul;3(7):410-27. doi: 10.1002/emmm.201100149. PMC3394513.

2008

Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf WI, Darin N, Wong L-J, Cohen BH and Nauiaux RK (2008) The in-depth evaluation of suspected mitochondrial disease: The Mitochondrial Medicine Society’s Committee on Diagnosis.  Molecular Genetics and Metabolism 94:16-37. PMCID: PMC2810849.

Abstracts

2016

Zolkipli-Cunningham., Z., Piwnica-Worms, W., McCormack, S., McCormick, E., Seyer, L., Lin, K, McBride, M., Paridon, S., Lynch, D.R., Falk, M.J.: The diagnostic utility of exercise testing in mitochondrial myopathies.   United Mitochondrial Disease Foundation, PA-0213, Seattle, WA, June 15-18, 2016. June 15-18 2016 Notes: PA-0213, Seattle, WA.

Ganetzky, R., Gai, X., Li, D., McCormick, E., Consugar, M., Pierce, E., Hakonarson, H., Wallace, D., Falk, M.J.  : Ashkenazi founder mutation in USMG5, a regulator of ATP synthase, is a novel cause of autosomal recessive mitochondrial disease.   Society of Inherited Metabolic Disease Annual Meeting, (47), April 2-6 2016 Notes: Ponta Vedra Beach, FL.

2015

Zolkipli Cunningham, Z., Stoddart A., McCormick E, Xiao, R., Falk, M.J: Mitochondrial Disease Patients' Motivations and Barriers to Participate in Clinical Trials. American Society of Human Genetics (ASHG) Annual Meeting, abstract #2261, Baltimore, MD Oct 7 2015.

Li., D., Bhoj, E.J., Tian, L., Harr, M.H., Dubbs, H.A., Hou, C., Kim, C.E., Mentch, F.D., Chiavacci, R., McCormick, E., Falk, M.J., Zackai, E., Hakonarson, H.: De novo mutations in novel histone and epigenetic regulator genes cause multiple genetic syndromes.   American Society of Human Genetics (ASHG) Annual Meeting, abstract #2875, Baltimore, MD Oct 9 2015.

Kong, J., Peng, M., Nakamaru-Ogiso, E., He, M., Ostrovsky, J., Kwon, Y.J., McCormick, E., Suzuki, E., Argon, Y., Falk, M.J. : NGLY1 deficiency causes mitochondrial dysfunction and induces oxidative stress.   American Society of Human Genetics (ASHG) Annual Meeting, platform talk, abstract #375, Baltimore, MD 10: Abstract #375, October 26 - 31 2015.

Jing, Y., McCormick, E., Place, E., Peng, M., Consugar, M., Seiler, C., Zhang, Q., Pierce, E.A., Falk, M.J., Gai, X. : Mitochondrial Disease Patients' Motivations and Barriers to Participate in Clinical Trials.  American Society of Human Genetics (ASHG) Annual Meeting, abstract #2563, Baltimore, MD Oct 7 2015.

Bai, R., Balog, A., Higgs, J., Retterer, K., Arjona, D., Jussola, J., Ali, Q.A., Suchy, S., Enns, G.M., Haas, R., Goldstein, A., Taronopolsky, M., Parikh, S., Copeland, W.C., Niyazov, D., Falk, M.J., Bale, S., Chung, W.K., Gabriele, R. : Whole Exome Sequencing and Whole Mitochondrial Genome Sequencing for the Molecular Diagnosis of Mitochondrial Disorders. American Society of Human Genetics (ASHG) Annual Meeting, abstract #1970, Baltimore, MD Oct 8 2015.

Zolkipli-Cunningham, Z., Stoddardt, A., McCormick, E., Xiao, R., Falk, M.J.  : Mitochondrial disease patients' motivations and barriers to participate in clinical trials.  UMDF Mitochondrial Medicine Symposium, platform talk, Herndon, VA June 17-20 2015.

Ganetzky, R., McCormick, E., Bennett, M., Nakamaru-Ogiso, E., Rodenberg, R., Falk, M.J.  =: Known and novel ATP6 mutations: Delineation of the phenotypic spectrum and functional effects.  UMDF Mitochondrial Medicine Symposium, abstract #44, Herndon, VA, June17-20, 2015.  Known and novel ATP6 mutations: Delineation of the phenotypic spectrum and functional effects.   UMDF Mitochondrial Medicine Symposium, abstract #44, Herndon, VA June 17-20 2015.

Bai, R., Balog, A., Higgs, J., Retterer, K., Arjona, D., Juusola, J., Vitazka, P., Suchy, S., Enns, G.M., Haas, R., Goldstein, A., Tarnopolsky, M., Parikh, S., Copeland, W.C., Niyazov, D., Falk, M.J., Chung, W.K., Bale, S., Richard, G.  : Whole exome sequencing and whole mitochondrial genome sequencing for molecular diagnosis of mitochondrial disorders: Lessons from 865 Cases.  UMDF Mitochondrial Medicine Symposium, abstract # 119, Herndon, VA June 17-20 2015.

He, M., Peng, M., Xueli L., Ostrovsky, J., Kwon Y.J., Raihan, M., Davids, M., Boerkoel, C., McCormick, E., Zuzuki, T., Argon, Y., Falk, M.J.  : NGLY1 deficiency lies in the crosshairs of CDG and mitochondrial diseases.   Society of Inherited Metabolic Disease annual meeting, abstract #, Salt Lake City, Utah March 28-31 2015.

DeBrosse, C.M., Falk, M.J., McCormack, S. : In Vivo OXPHOS Quantitation by Magnetic Resonance Imaging in Metabolic Myopathy.   Society of Inherited Metabolic Disease annual meeting, Salt Lake City, Utah March 28-31 2015.

Books

Chapters

2016

Falk MJ: National Academies of Sciences, Engineering, and Medicine.   Mitochondrial replacement techniques: ethical, social, and policy considerations.   National Academies Press, 2016.

2015

McCormick, EM, Saneto RP, Falk MJ : Chapter 25. Childhood-onset peripheral neuropathy with cognitive decline.  Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis.  Russell P. Saneto, Sumit Parikh, and Bruce H. Cohen.   (eds.). Elsevier, 2015.

McCormack S, Gai X, Place E, Falk MJ : Chapter 21. Mitochondrial DNA depletion syndromes presenting in childhood.   Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis.   Russell P. Saneto, Sumit Parikh, and Bruce H. Cohen (eds.). Elsevier, 2015.

Falk MJ, Murarescu C: Chapter 5.  Clinical Genetics. In: Mitochondrial Medicine.  Elsevier, 2015.

2014

Haldemann-Englert C and Falk MJ:  Fragile X syndrome.   5 Minute Pediatric Consult, 6th Ed. 2014.

2008

Falk MJ and NH Robin: Chapter 5: Classification of Birth Defects.   In: Medical Genetics Its Application to Speech, Hearing, and Craniofacial Disorders.   Plural Publishing, Inc. 2008.

2004

Falk MJ, Robin NH.: Chapter 99: The physical examination in clinical genetics. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. Wiley Publishing Co. 2004.

Posters and Presentations

2016

McCormack, S.E., Xiao R., Kilbaugh T.J., Karsson, M., Falk, M.J., Damrauer, S.M. : Hospitalizations related to mitochondrial disease in the US: Characteristics and direct medical costs.  United Mitochondrial Disease Foundation June 15-18 2016 Notes: PA-0237 and platform talk, Seattle, WA.

Karlsson, M., Ehinger, J., McCormack, S.E., Kubis, S.E., Hansson, M.J., Elmer, E., Falk, M.J., Kilbaugh, T.  : Characterizing pediatric patients with disorders of mitochondrial metabolism in the pediatric intensive care unit. United Mitochondrial Disease Foundation,  June 15-18 2016 Notes: PA-0207 and platform talk, Seattle, WA.

Ganetzky, R.D., Potlouri, P., Gai, X., Li, D., McCormick, E., Consugar, M., Pierce, E.A., Hakonarson, H., Wallace, D.C., Falk, M.J.   : Ashkenazi founder mutation in USMG5, a regulator of ATP synthase, is a novel cause of autosomal recessive mitochondrial disease.    United Mitochondrial Disease Foundation  June 15-18 2016 Notes: PA-0249 and platform talk, Seattle, WA.

Zolkipli-Cunningham, Z., McCormack, S., McCormick, E., McBride, M., Falk, M.J.  : The diagnostic utility of aerobic exercise testing in mitochondrial myopathies.  Society of Inherited Metabolic Disease Annual Meeting,  April 2-6 2016 Notes: Travel award recipient oral presentation, Ponta Vedra Beach, FL.

Kwon, YJ., Falk M.J., Bennett, M. : Flunarizine rescues short lifespan of CLN3 knockout Caenorhabditis elegans model of Batten disease.   Society of Inherited Metabolic Disease Annual Meeting,  April 2-6 2016 Notes: Travel award recipient oral presentation, Ponta Vedra Beach, FL.

Invited Lectures

2018

Falk MJ. “Precision mitochondrial medicine”. -Invited Plenary Speaker, Advances in Genome Biology and Technology (AGBT). Precision Health Conference, La Jolla, CA. September 6, 2018.

Falk MJ. “MSeqDR Workshop”. Organizer and Invited Speaker, United Mitochondrial Disease Foundation Annual. Symposium, Nashville, TN. June 30, 2018.

Falk MJ. “Therapeutic Cross-Training: High throughput screening across evolutionary-distinct genetic models to optimize precision mitochondrial disease therapies”. Invited Speaker, United Mitochondrial Disease Foundation Annual Symposium, Nashville, TN. June 28, 2018.

Falk MJ. “Mitochondrial medicine in prenatal and obstetrical care”. Invited Speaker, 10th Annual Philadelphia Prenatal Diagnostics Conference, Philadelphia, PA. June 8, 2018.

Falk MJ. “Mitochondrial disease: Modeling disease mechanisms and therapies”. Invited Speaker, Pediatric Grand Rounds, Washington University in St Louis (WUSTL), St. Louis, MO. May 25, 2018.

Falk MJ. “Nutrition in mitochondrial disease”. Invited Speaker, 2018 Global Metabolic Disease International (GMDI) Conference on Metabolic Nutrition: The world of today and tomorrow, Orlando, FL. April 27, 2018.

Falk MJ. “Novel therapeutic approaches and clinical trial development to achieve precision therapy for mitochondrial disease”. Pediatric Neurology Grand Rounds, New York University (NYU) School of Medicine, New York, NY. April 10, 2018.

Falk MJ. “Nutritional inadequacies in mitochondrial-associated metabolic disorders”. Invited Speaker, National Academies Workshop on Special Nutritional Requirements in Disease States, National Academies of Medicine, Washington, DC. April 2, 2018.

Falk MJ. “Mitochondrial Disease: An Overview”. Invited Lecturer Aaron Michael Graham 25th Anniversary Lecture, Department of Pediatrics, Children’s Hospital of Los Angeles (CHLA), Los Angeles, CA. March 9, 2018.

Falk MJ. “Think outside the organelle: Improving health in mitochondrial disease by targeting cellular stress”. Invited Speaker, Mitochondrial Medicine Interest Group, Chemistry and Biochemistry, University of California Los Angeles (UCLA), Los Angeles, CA. March 7, 2018

Falk MJ. “Mitochondrial Disease: What is it and what to expect”. Invited Speaker, UMDF Pacific Regional Family Meeting, San Diego, CA. February 23, 2018.

Falk MJ. “Mitochondrial Disease Primer”. Invited Speaker, UMDF Pacific Regional Symposium, UCSD, San Diego, CA. February 22, 2018.

Falk MJ. “Mitochondrial Disease Overview”. Invited Speaker, Reproductive Endocrinology Grand Rounds, National Institute of Child Health and Development (NICHD), NIH, Bethesda, MD. February 9, 2018

2017

Falk MJ. “Mitochondrial disease: Overview and nuclear genetic causes”. Plenary Session Co-chair and Invited Session Speaker, Association of Molecular Pathology (AMP) Annual Meeting, Salt Lake City, UT. November 18, 2017.

Falk MJ. “Mitochondrial Disease Therapies: Translation from simple model animals to bedside”. Invited Platform Talk, 59th Annual Meeting of the Japanese Society of Inherited Metabolic Disease, Kawagoe, Saitama University, Saitama, Japan. October 14, 2017.

Falk MJ. “The cost of mitochondrial disease”. Invited Speaker, Congressional Mitochondrial Disease Caucus Briefing, Cannon Building, Capitol Hill, Washington, DC. October 3, 2017.

Falk MJ. “Precision Medicine: Now and Next”. September 25, 2017.

Falk MJ. “Thinking outside the organelle: Improving health in mitochondrial disease by targeting cellular stress”. Invited Seminar, Center for Integrated Brain Research (CIBR) Research Seminar Series, Seattle Children’s Hospital, Seattle, WA. September 15, 2017.

Falk MJ. “Mitochondrial disease: getting to diagnosis and effective therapies”. Invited Seminar, Neurology Grand Rounds, Seattle Children’s Hospital, Seattle Washington. September 15, 2017.

Falk MJ. “Striving Toward Precision Mitochondrial Medicine: Strategic Growth in Clinical Care, Collaborative Research & Community Partnership”. Invited Seminar, South Jersey, Summer Institute for Educators, Philadelphia, PA. July 25, 2017.

Falk MJ. “Go outside and play: target cellular stress to treat mitochondrial disease”. Invited Platform Talk, The Israeli Society for Metabolic Diseases & The Mitochondrial Research Hub HUJI–IMRIC, Hebrew University, Jerusalem, Israel. July 10, 2017.

Falk MJ. “Mitochondrial disease: getting to diagnosis and effective therapies”. Invited Plenary Talk, The Israeli Society for Metabolic Diseases & The Mitochondrial Research Hub HUJI–IMRIC, Hebrew University, Jerusalem, Israel. July 10, 2017.

Falk MJ. “Get Outside and Play: Target cellular stress to treat mitochondrial disease”. Invited Speaker, Glaxo Smith Kline (GSK) Headquarters, King of Prussia, PA. July 6, 2017.

Falk MJ. “MSeqDR Workshop”. Invited Workshop Presentation, United Mitochondrial Disease Foundation Annual Symposium, Alexandria, VA. June 28, 2017

Falk MJ. “Mitochondrial Disease: Overview of Etiology, Diagnosis and Therapy”. Invited Speaker, 9th Annual Philadelphia Prenatal Diagnostics Conference, Philadelphia, PA. June 9, 2017.

Falk MJ. “Striving Toward Precision Mitochondrial Medicine: Strategic Growth in Clinical Care, Collaborative Research & Community Partnership”. Invited Seminar, CHOP Annual Research Symposium, Philadelphia, PA. May 2, 2017.

Falk MJ. “Get Outside and Play: Target cellular stress to treat mitochondrial disease”. Invited Speaker, Department of Genetics and Institute for Genomics Seminar Series, Mt. Sinai Hospital, New York, NY. April 28, 2017.

Falk MJ. “Mitochondrial Disorders in Adulthood”. Invited Concurrent Session Speaker, ACMG Annual Meeting, Phoeniz, AZ. March 24, 2017.

Falk MJ. “Mitochondrial Disease: Getting to Diagnosis and Effective Therapies”. Invited Speaker, UMDF Great Lakes Mitochondrial Medicine Family Meeting, St. Louis, MO. March 11, 2017.

Falk MJ. “MSeqDR Workshop Session”. Invited Speaker, UMDF Great Lakes Mitochondrial Medicine Regional Symposium, St. Louis, MO. March 10, 2017.

Falk MJ. “Mitochondrial Disease: Getting to Diagnosis and Effective Therapies”. Invited Speaker, UMDF Great Lakes Mitochondrial Medicine Regional Symposium, St. Louis, MO. March 10, 2017.

Falk MJ. “Using Genetics in Clinical Trials for Mitochondrial Disease”. March 8, 2017.

2016

Falk MJ. “Mitochondrial Disease Sequence Data Resource (MSeqDR): Overview and Update”. Invited Speaker, Directors Meeting of the NIH Intellectual and Developmental Disabilities Research Consortium (IDDRC), Philadelphia, PA. November 10, 2016.

Falk MJ. “Evaluation of Bioenergetic Capacity in Spontaneous Preterm Birth”. Invited Speaker, Annual site visit, March of Dimes Prematurity Research Center at The University of Pennsylvania, Philadelphia, PA. October 27, 2016.

Falk MJ. “Mitochondrial Disease Sequence Data Resource (MSeqDR): Overview and Update”. Guest Speaker, WEBEX to TransNIH Mitochondrial Disease (MiDi) Working Group. October 26, 2016.

Falk MJ. “Mitochondrial Disease Sequence Data Resource (MSeqDR): Overview and Update”. Invited Speaker, Genomit 2.0 Inaugural Investigators Meeting, Munich, Germany. October 7, 2016.

Falk MJ. "CPIM Overview and Survey of Active Clinical Trials in Mitochondrial Disease"-Invited Speaker, BIO International Convention 2016, San Francisco, CA, Jun, 2016.

Falk MJ. "Genetics and self-reported symptoms of mitochondrial disease"-Invited Speaker, BIO International Convention 2016, San Francisco, CA, Jun, 2016.

Falk MJ. Mitochondrial Disease Sequence Data Resource (MSeqDR) Update-Invited Speaker, United Mitochondrial Disease Foundation (UMDF) Mitochondrial Medicine Symposium, Seattle, WA, Jun, 2016.

Falk MJ. Critical Path Innovation Meeting on Mitochondrial Disease Treatment Trials Overview-Invited Speaker, United Mitochondrial Disease Foundation (UMDF) Mitochondrial Medicine Symposium, Seattle, WA, Jun, 2016.

Falk MJ. "Deciphering mitochondrial disease's impact beyond mitochondria: Novel therapeutictargets lie in the nutrient-sensing signaling network and basic cellular processes that regulate proteotoxic stress"-Invited Speaker, Mitochondrial Medicine: Developing New Treatments for Mitochondrial Disease, Wellcome Genome Campus, Hinxton, UK, May, 2016.

Falk MJ. "Mitochondrial Disease: Getting to Diagnosis and Effective Therapies" -Invited Speaker, UMDF Great Lakes Regional Symposium and Family Meeting, Mayo Clinic, Rochester, MN, May, 2016.

Falk MJ. "Nutritional Interventions, Medical Food and Dietary Supplements in Mitochondrial Disease"-Invited Speaker, Society of Inherited Mitochondrial Disease (SIMD) Annual Meeting, Ponte Vedra Beach, Florida, Apr, 2016.

Falk MJ. "Genomics resource and novel therapeutic approaches in mitochondrial disease"-Invited Speaker, MitoCircle, Thomas Jefferson University, Philadelphia, PA, Apr, 2016.

Falk MJ. "Mitochondrial Disease Sequence Data Resource (MSeqDR): Overview and Update"-Invited UMDF Grand Rounds Speaker, College of Information Technology, University of Omaha, Omaha, Nebraska, Apr, 2016.

Falk MJ. "Mitochondrial Disease: Getting to Diagnosis and Effective Therapies"-Invited Speaker, UMDF Regional Family Meeting, Omaha, Nebraska, Apr, 2016.

Falk MJ. "Mitochondrial Replacement Therapy" -Invited panel speaker at MRT report public dissemination event, National Academy of Sciences, Washington, DC, Mar, 2016.

Falk MJ. "Mitochondrial Replacement Therapy" -Invited panel speaker on MRT report release event, National Academy of Sciences, Washington, DC, Feb, 2016.

2015

Falk MJ. "Mitochondrial Cocktails: Evaluation of the efficacy and toxicity of drug and supplement therapies in human cell and simple animal models of respiratory chain disease"-Invited Speaker, Monthly Seminar Series, Office of Dietary Supplements, NIH, Bethesda, MD, Nov, 2015.

Falk MJ. "Mitochondrial Disease Treatment Trials: Primary Outcome Measures"-Critical Path Innovation Meeting (CPIM), Food and Drug Administration, Silver Spring, MD, Oct, 2015.

Falk MJ. "Cysteamine bitartrate efficacy and potential toxicity analyses in C. elegans and human cell models of primary mitochondrial respiratory chain disease: Scientific Progress Update" RAPTOR Pharmaceuticals Lunch & Learn Lecture, RAPTOR Headquarters, Novato, CA, Aug, 2015.

Falk MJ. "Cysteamine bitartrate efficacy and potential toxicity analyses in C. elegans and human cell models of primary mitochondrial respiratory chain disease: Scientific ProgressUpdate" -RAPTOR Pharmaceuticals Lunch & Learn Lecture, RAPTOR Headquarters, Novato, CA, Aug, 2015.

Falk MJ. "Overview of Mitochondrial Disease and pre-clinical data on probucol as a potential therapy." Invited Speaker, Bioadvance Corporate Headquarters, Lankenau, PA, Jul, 2015.

Falk MJ. "Overview of Mitochondrial Disease and pre-clinical data on probucol as a potential therapy."               -Invited Speaker, Bioadvance Corporate Headquarters, Lankenau, PA, Jul, 2015.

Falk MJ. "Bioenergetics Evaluation in Mouse Placenta and Uterus"-Invited Speaker, March of Dimes Prematurity Research Center at University of Pennsylvania Summer Research Retreat, Philadelphia, PA, Jul, 2015.

Falk MJ. MSeqDR: Live Workshop Tutorial" Session organizer and leader, Mitochondrial Medicine Symposium 2015, Herndon, VA, Jun, 2015.

Falk MJ. MSeqDR: Live Workshop Tutorial" -Session organizer and leader, Mitochondrial Medicine Symposium 2015, Herndon, VA, Jun, 2015.

Falk MJ. "Harnessing Big Data to Advance Mitochondrial Medicine: Integrating Clinical Need with Emerging Technologic Opportunities"-Platform Speaker, Mitochondrial Medicine Symposium 2015, Herndon, VA, Jun, 2015.

Falk MJ. "New Perspective in Research and Therapies for Mito Diseases in US and the Role of Network, Databases and Biobanks" Invited Speaker, 5th National Meeting for Mitochondrial Medicine, Bologna, Italy, Jun, 2015.

Falk MJ. "New Perspective in Research and Therapies for Mito Diseases in US and the Role of Network, Databases and Biobanks" -Invited Speaker, 5th National Meeting for Mitochondrial Medicine, Bologna, Italy, Jun, 2015.

Falk MJ. "Harnessing Big Data to Advance Mitochondrial Medicine: Integrating Clinical Need with Emerging Technologic Opportunities" Platform Speaker, Mitochondrial Medicine Symposium 2015, Herndon, VA, Jun, 2015.

Falk MJ. "Mitochondrial Disease"-Invited Speaker, UMDF Great Lakes Mitochondrial Medicine 2015 Regional Symposium, Michigan State University, Kellogg Conference Center, East Lansing, MI, May, 2015.

Falk MJ. "Using C. elegans to Understand Mitochondrial Function and Genetics" -Invited Speaker, Neurogenetics Symposium, Division of Neurology, The Children's Hospital of Philadelphia, May, 2015.

Falk MJ. "How NGLY1 and Mito Intersect"-Invited Speaker, NGLY1 Conference, Grace Wilsey Foundation, San Francisco, CA, Mar, 2015.

Falk MJ. "MSeqDR: Live Workshop Tutorial"-Session organizer and leader, Society of Inherited Metabolic Disease (SIMD) Annual Conference, Salt Lake City, UT, Mar, 2015.

Awards and Honors

2018, Philadelphia Magazine's Top Doctors

2011-2017, Best Doctors in America Database

2011, Featured article, "New Use for a failed drug: A Children's Hospital Study offers hope in battling metabolic disorders", InHealth Section, The Philadelphia Inquirer, June 1, 2011

2010-2017, Guide to America's Top Physicians

2008, Best Abstract Award, 2nd Prize, The Mitochondria Research Society

2008, Junior Investigator Travel Award, Society for Inherited Disorders of Energy Metabolism

2007, 2008, Travel Award, United Mitochondrial Disease Foundation

2007, Junior Investigator Travel Award, Society for Inherited Disorders of Energy Metabolism

2007, Travel Award, United Mitochondrial Disease Foundation (UMDF)

2007, Moderator, Mitochondria and Disease Platform Session, American Society of Human Genetics

2007, 2008, Junior Faculty Travel Award, Society of Inherited Metabolic Disease (SIMD)

2004, Excellence in Patient Care Award, University Hospitals of Cleveland, Cleveland, OH

2004, David W. Smith 25th Workshop on Malformations & Morphogenesis Fellows Award

2000, Walter Freeman Medical Research Award: "Best paper based on original investigation"

2000, Alpha Omega Alpha Honor Society

1997, William Beaumont Medical Research Honor Society

1996, Phi Beta Kappa, Alpha Chapter of District of Columbia

1996, summa cum laude, The George Washington University, Washington, DC

1995-1996, Presidential Award for Top Two Percent of University Students

1993, Valedictorian, John F. Kennedy High School, Bellmore, NY

1993, Westinghouse National Science Competition Semifinalist for Independent Research: "Effect of Wound Healing on Malus domestica"

Editorial and Academic Positions

Editorial Positions

2010-present, Invited Guest Editor Developmental Disabilities Research Reviews (DDRR)Special Issue on "Emerging Research in Mitochondrial Disease", 13 articles

Ad Hoc Reviewer

2018-present, EMBO Molecular Medicine

2018-present, JAMA

2018-present, EBioMedicine

2017-present, GeneReviews

2017-present, Proceedings of the National Academy of Science (PNAS)

2016-present, New England Journal of Medicine

2016-present, Nature Reviews Disease Primers

2013-present, European Journal of Human Genetics

2012-present, Pediatric Emergency Care

2012-present, Brain

2012-present, Retina: The journal of retinal and vitreous diseases

2011-present, Human Mutation

2010-present, The FASEB Journal

2010-2015, Mitochondrion

2009-present, Current Molecular Medicine

2009-present, Proteome Science

2008-present, Journal of Inherited Metabolic Disease

2008-present, Journal of Biological Chemistry

2007-present, Pediatrics

2005-present, Post-Graduate Medicine

Academic and Institutional Committees

2017, Elected Member, The Interurban Clinical Club (ICC)

2016-2021, E-Rare Funded Genomit Consortium, Workgroup Partner

2016, Secretary, John Morgan Society, University of Pennsylvania, Philadelphia, PA

2016-present, Peer-reviewed Medical Research Program (PRMRP) FY15 Discovery Award Programmatic Review Committee, Department of Defense

2016-present, Rare and Orphan Disease Subgroup, Rare and Complex Disease Working Group, Strategic Planning Committee, CHOP Research Institute, Co-Chair

2015-present, Search Committee Chair, Mitochondrial Disease Clinical Center Clinical Director, CHOP

2015-present, The Genesis Project, Scientific Advisory Board

2015-present, Wellcome Trust and Royal Society, UK, Invited Grant Reviewer

2014, Elected Member, John Morgan Society, University of Pennsylvania, Philadelphia, PA

2013, European Research Council (ERC) Synergy Grant Review, Invited Panel Member

2013-present, Austrian Research Fund, Austria, Invited Grant Reviewer

2012-2015, Advisory Committee Invited Participant, CHOP Research Institute Inaugural Pediatric Translational Research Workshop (PTRW)

2012-present, Advisory Committee Invited Participant, CHOP Research Institute Pediatric Translational Research Course (PTRC)

2012-present, Faculty Recruitment Committee for Assistant Director for CHOP Clinical Biochemical Laboratory Faculty Recruitment Committee, CHOP Pathology

2012-present, CHOP Research Institute "CHOP/Penn Mitochondria Research Affinity Group", Leader

2012-present, Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

2012-present, Mitochondrial Disease Congressional Caucus

2008-present, CHOP Mitochondrial Research Affinity Group, Organizer and Co-Leader

2008-present, Metabolism Division Faculty Recruitment Committee, CHOP

2007-present, Molecular Diagnostic Laboratory Mitochondrial DNA Testing Development Committee

2007-present, CHOP/UPENN Mitochondrial Interest Group, Organizer and Director

2006-present, CHOP Human Genetics Fellowship Selection and Review Committee

2004-present, United Mitochondrial Disease Foundation

 - 2014-present, Patient Registry Video Guide, UMDF-Genetic Alliance Patient Registry

 - 2014-present, Clinical Research Committee

 - 2012-2015, Scientific and Medical Advisory Board, Chair

 - 2012-2015, Board of Trustees

 - 2011-2016, Mitochondrial Champion

 - 2011-2016, Scientific & Medical Advisory Board

 - 2008-present, "Ask the MitoDoc" participant

2004-present, National Meeting on Management of Mild Osteogenesis, Imperfecta, Invited Panel Member

 

Leadership and Memberships

Memberships in Professional Organizations

International 

2017-present, The Interurban Clinical Club (ICC)

2013-present, International Society of Neurochemistry

National

2017-present, American Society of Clinical Investigation (ASCI)

2011-present, Mitochondria Research Society

2010-present, American College of Medical Genetics

2007-present, Society for Pediatric Research

2006-present, Mitochondrial Medicine Society

2005-present, Society for Inherited Metabolic Disease

2002-present, American Society of Human Genetics

2000-present, American Academy of Pediatrics