| 1998 | “Mitochondrial etiologies of pseudoobstruction and dysmotility in children” | Investigator Grant | Carolyn Bay, MD | Children’s Hospital of Pittsburgh | Pittsburgh | PA | US | $5,000.00 |
| 1998 | “Gene mutations in Leigh’s Disease” | Investigator Grant | John Shoffner, MD | Horizon Molecular Laboratory | Dunwoody | GA | US | $30,000.00 |
| 1998 | “Search for Pathogenic Mitochondrial DNA Mutations Using Temporal Temperature Gradient Gel Electrophoresis (TTGE)” | Investigator Grant | Richard Boles, MD | Children’s Hospital of Los Angeles | Los Angelas | CA | US | $30,000.00 |
| 1999 | “Efficacy of Prenatal Diagnosis of Mitochondrial Diseases” | Investigator Grant | Brian Robinson, PhD | The Hospital for Sick Children | Toronto | ON | CA | $8,863.00 |
| 1999 | “Characterization of Mitochondrial Nitric-Oxide Synthase” | Investigator Grant | Cecilia Giulivi, PhD | University of Minnesota | Rochester | MN | US | $31,137.00 |
| 2000 | “Quantitative In Vivo 1H Magnetic Resonance Spectroscopic Imaging of Cerebral Lactate as a Screening Test for Mitochondrial Disorders” | Investigator Grant | Dikoma Shungu, PhD | Columbia University | New York | NY | US | $36,719.00 |
| 2000 | “Is oxidative damage a result of metabolic abnormalities in Alzheimer disease?” | Investigator Grant | George Perry, MD | Case Western Reserve University | Cleveland | OH | US | $18,281.00 |
| 2001 | “Efficacy of prenatal diagnosis of mitochondrial diseases.” | Investigator Grant | Brian Robinson, PhD | The Hospital for Sick Children | Toronto | | CA | $15,000.00 |
| 2001 | “Complex I: The role of nuclear genes in disorders of childhood due to mitochondrial Complex I deficiency.” | Investigator Grant | Edwin Kirk, MD | Sydney Children’s Hospital | Sydney | | AU | $12,000.00 |
| 2001 | “Biochemical Basis for Maternally Inherited Deafness” | Investigator Grant | Min-Xin Guan, PhD | Children’s Hospital Medical Center | Omaha | NE | US | $33,000.00 |
| 2002 | “Transport diseases in mitochondria: Full screening of DNA alterations in human genes encoding TOMM and TIMM complexes in patients with mitochondrial diseases” | Investigator Grant | Jose Hernandez-Yago, PhD | Institute for Cell Research | Barcelona | | ES | $41,085.00 |
| 2002 | “Electrophysiologic Properties of Neural Stem Cells from Patients with Mitochondrial Disease” | Investigator Grant | Philip Schwartz, PhD | Children’s Hospital of Orange County | Orange | CA | US | $81,574.00 |
| 2002 | “Exercise-induced mitochondrial gene shifting: Resistance training as a therapy for sporadic mtDNA mutations” | Investigator Grant | Tanja Taivassalo, PhD | Institute for Exercise & Environmental Medicine | Dallas | TX | US | $61,389.00 |
| 2002 | “Exploiting the potential of yeast NDI1 gene in the therapy of diseases linked with mtDNA” | Investigator Grant | Yidong Bai, PhD | University of Texas Health Science Center at San Antonio | San Antonio | TX | US | $66,000.00 |
| 2003 | “The Use of the Yeast CYB2 Gene As Therapy for Complex I Mutations in a C. elegans Model System” | Investigator Grant | Bernard Lemire, PhD | University of Alberta | Alberta | BC | CA | $76,780.00 |
| 2003 | “MtDNA complementation and recombination in mitochondrial disorders” | Investigator Grant | Giovanni Manfredi, MD, PhD | Weill Medical College of Cornell University | New York | NY | US | $50,000.00 |
| 2003 | “Application of RNA interference in the study of NADH-ubiquinone oxidoreductase (complex I) assembly in mammalian mitochondria” | Investigator Grant | Immo Scheffler, PhD | University of California, San Diego | San Diego | CA | US | $100,000.00 |
| 2003 | “Molecular Basis of Mitochondrial Membrane Dynamics: a New Paradigm of Human Disease” | Investigator Grant | Koji Okamoto, PhD | University of Utah | Salt Lake City | UT | US | $83,400.00 |
| 2003 | “Role of Rhomboid Proteolysis in Optic Atrophy” | Investigator Grant | Matthew Freeman, PhD | Laboratory of Molecular Biology – M.R.C. | Cambridge | | UK | $90,000.00 |
| 2003 | “Selective Elimination of Defective Mitochondrial Genomes as an Approach to the Reversal of NARP and MILS Syndromes, Heritable Mitochondrial Disorders” | Investigator Grant | Mikhail Alexeyev, PhD | University of South Alabama | Mobile | AL | US | $100,000.00 |
| 2004 | “Drug development for the regulation of respiratory chain components in mitochondria” | Investigator Grant | Brian Robinson | Hospital for Sick Children | Toronto | ON | CA | $44,000.00 |
| 2004 | “Understanding the role of mitochondrial fusion in mitochondrial myopathies” | Investigator Grant | David C. Chan, MD, PhD | California Institute of Technology | Pasadena | CA | US | $128,000.00 |
| 2004 | “GSH levels, reactive oxygen species production, lipid peroxidation, products and mitochondrial membrane potential in patients with mitochondrial disease” | Investigator Grant | Gregory M. Enns, MB, ChB | Stanford University | Stanford | CA | US | $34,179.00 |
| 2004 | “The hypoxia sensing transcription factor EPAS1/HIF-2a is a novel mitochondrial disease candidate in mice and man” | Investigator Grant | Joseph A. Garcia, MD, PhD | University of Texas SW Medical Center at Dallas | Dallas | TX | US | $88,852.00 |
| 2004 | “The nuclear-encoded gene OMI and mitochondrial disease” | Investigator Grant | Miriam H. Meisler, PhD | University of Michigan | Ann Arbor | MI | US | $108,305.00 |
| 2004 | “Restoration of thymidine phosphorylase activity in MNGIE patients through platelets infusion” | Investigator Grant | Ramon Marti, PhD | Fundacio Institut Hospital Vall d’Hebron | Barcelona | | ES | $33,776.00 |
| 2004 | “Protein phosphatase 2A in mitochondrial function and disease” | Investigator Grant | Stefan Strack, PhD | University of Iowa, Carver College of Medicine | Iowa City | IA | US | $88,000.00 |
| 2004 | “Genomic Approaches to Human Cytochrome c Oxidase Deficiency” | Investigator Grant | Vamsi K. Mootha, MD | Broad Institute, Massachusetts Institute of Technology | Cambridge | MA | US | $90,200.00 |
| 2004 | “Development of a method for transforming mitochondria in living mammalian cells with exogenous DNA” | Investigator Grant | Volkmar Weissig, PhD | Northeastern University, Dept. of Pharmaceutical Sciences | Boston | MA | US | $99,360.00 |
| 2005 | “The Mechanism of Mitochondrial Dysfunction in Paraplegin-Deficient Mice.” | Investigator Grant | Elena Rugarli, MD | Telethon Institute of Genetics and Medicine | Pozzuoli | | IT | $126,500.00 |
| 2005 | “The assembly pathway of human cytochrome-c oxidase studied with RNA interference” | Investigator Grant | Jan-Willem Taanman, PhD | University College London | London | | UK | $86,445.00 |
| 2005 | “Biochemical and structural studies on mitochondrial disease mutations in methionyl-tRNA.” | Investigator Grant | Linda Spremulli, PhD | University of North Carolina, Chapel Hill | Chapel Hill | NC | US | $110,980.00 |
| 2005 | “Role of mitofusin-2, a mitochondria-shaping protein mutated in Charcot-Marie-Tooth IIa, in controlling mitochondrial function and apoptosis.” | Investigator Grant | Luca Scorrano, MD, PhD | Dulbecco-Telethon Institute | Rome | | IT | $94,000.00 |
| 2005 | “Molecular Basis of Mitochondrial Gene Regulation” | Investigator Grant | Mair Churchill, PhD | University of Colorado Health Sciences Center | Denver | CO | US | $116,133.00 |
| 2005 | “MitoPLD, a novel enzymatic regulator of mitochondrial morphology and fusion” | Investigator Grant | Michael Frohman, MD PhD | Stony Brook University | Stony Brook | NY | US | $141,027.00 |
| 2005 | “The Population prevalence of ten mtDNA mutations” | Investigator Grant | Patrick F. Chinnery, PhD | University of Newcaslte upon Tyne, UK | Newcastle upon Tyne | | UK | $162,878.00 |
| 2005 | “Diagnostic Utility of DHPLC in Mitochondrial Disease” | Investigator Grant | Richard H. Haas, MB, BChir | University of California, San Diego | San Diego | CA | US | $109,991.00 |
| 2005 | “Barth Syndrome: A Mitochondrial Disease with Insights into Cardiolipin Synthesis” | Investigator Grant | Tal Mia Lewin, PhD | University of North Carolina, Chapel Hill | Chapel Hill | NC | US | $70,625.00 |
| 2006 | “High throughput screening for mitochondrial enhancers” | Investigator Grant | Brian H. Robinson, PhD | Hospital for Sick Children | Toronto | ON | CA | $125,000.00 |
| 2006 | “Defective biogenesis of mitochondrial beta-barrel proteins as a cause for Mohr-Tranebjaerg syndrome” | Investigator Grant | Doron Rapaport, PhD | University of Tuebingen | Tubingen | | DE | $98,000.00 |
| 2006 | “Mechanisms of muscle dysfunction studied in mouse models of mitochondrial myopathies” | Investigator Grant | Håkan Westerblad, MD, PhD | Karolinska Institute | Solna | | SE | $122,720.00 |
| 2006 | “Enzymereplacement therapy: A novel approach for treating a mitochondrial disease-LAD deficiency” | Investigator Grant | Haya Lorberboum-Galski, PhD | Hebrew University of Jerusalem | Jerusalem | | IS | $115,000.00 |
| 2006 | “Enzymatic, assembly and genetic studies on the human pyruvate dehydrogenase multi-enzyme complex” | Investigator Grant | John Gordon Lindsay, PhD | University of Glasgow | Glasgow | | UK | $43,494.00 |
| 2006 | “Developing therapies for mitochondrial disease” | Investigator Grant | Michael J. Palladino, PhD | University of Pittsburgh | Pittsburgh | PA | US | $98,457.00 |
| 2006 | “Utilization of fission yeast as a model for mitochondrial morphology: a new approach to discover novel genes involved in animal cells” | Investigator Grant | Stephane Chiron, PhD | University of California-San Diego | San Diego | CA | US | $98,500.00 |
| 2006 | “Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease” | Investigator Grant | Thomas W. O’Brien, PhD | University of Florida | Gainesville | FL | US | $125,000.00 |
| 2006 | “Molecular signatures of mitochondrial disorders” | Investigator Grant | Vishal Gohil, PhD | Massachusetts General Hospital | Boston | MA | US | $88,850.00 |
| 2006 | “Animal models of human Barth syndrome, a mitochondrial cardiolipin disorder” | Investigator Grant | Zaza Khuchua, PhD | Vanderbilt University Medical Center | Nashville | TN | US | $110,000.00 |
| 2007 | “Mitochondrial DNA synthesis and Krebs (tricarboxylic acid) cycle: the succinyl-CoA synthase.” | Investigator Grant | Ann Saada, PhD | Hadassah Hebrew University Medical Center | Jerusalem | | IS | $98,340.00 |
| 2007 | “Mutant Complex I in Drosophila melanogaster: a Novel Genetic Model for Mitochondrial Disease.” | Investigator Grant | Brett Graham, MD, PhD | Baylor College of Medicine | Waco | TX | US | $111,779.00 |
| 2007 | “Development of high throughput mtDNA sequencing for mutation detection and heteroplasmy assessment.” | Investigator Grant | Konstantin Khrapko, PhD | Beth Israel Deaconess Medical Center | Boston | MA | US | $110,000.00 |
| 2007 | “Determination of the nuclear transcriptional responses that affect animal physiopathology upon impaired mitochondrial respiratory chain function.” | Investigator Grant | Ludivine Walter, PhD | Cornell University | Ithica | NY | US | $100,000.00 |
| 2007 | “Development of high throughput assays for mitochondrial respiratory chain function.” | Investigator Grant | Michael Paul King, PhD | Thomas Jefferson University | Philadelphia | PA | US | $118,648.00 |
| 2007 | “Genotype-Phenotype Correlation and Genetic Modifiers in Barth Syndrome.” | Investigator Grant | Mindong Ren, PhD | New York University School of Medicine | New York | NY | US | $157,450.00 |
| 2007 | “Identification of novel genes associated with isolated complex I deficiency using whole genome mapping in small consanguineous families” | Investigator Grant | Orly Elpeleg, MD | Hadassah Hebrew University Medical Center | Jerusalem | | IS | $60,500.00 |
| 2007 | “Mitochondrial calcium signaling and organelle dysfunction in mitochondrial diseases: molecular determinants and regulatory mechanisms.” | Investigator Grant | Paolo Pinton, PhD | University of Ferrara | Ferrara | | IT | $86,250.00 |
| 2007 | “Molecular genetic dissection of mitochondrial complex I assembly” | Investigator Grant | Patrice Hamel, PhD | Ohio State University | Columbus | OH | US | $114,189.00 |
| 2007 | “Defining copper homeostasis in the mitochondria: Recruitment and distribution of copper for the assembly of cuproenzymes.” | Investigator Grant | Paul A. Cobine, PhD | University of Utah | Salt Lake City | UT | US | $99,000.00 |
| 2007 | “Increased mitochondrial biogenesis as therapy to mitochondrial myopathies.” | Investigator Grant | Tina Wenz, PhD | University of Miami | Miami | FL | US | $94,481.00 |
| 2008 | “Cerium oxide nanoparticles in the treatment of mitochondrial diseases.” | Investigator Grant | Beverly A. Rzigalinski, PhD | Virginia College of Osteopathic Medicine | Blacksburg | VA | US | $101,569.00 |
| 2008 | “Identifying genetic modifiers of tissue-specific mitochondrial DNA segregation.” | Investigator Grant | Brendan James Battersby, PhD | University of Helsinki | Helsinki | | FI | $150,000.00 |
| 2008 | “Evaluation of the efficacy and safety of erythrocyte encapsulated thymidine phosphorylase therapy in two patients with mitochondrial neurogastrointestional encephalomyopathy.” | Investigator Grant | Bridget Elizabeth Bax, PhD | St. George’s University of London | London | | UK | $116,428.00 |
| 2008 | “Study of redox regulated pathways in the mitochondrion.” | Investigator Grant | Deepa Vinay Dabir, PhD | University of California-Los Angeles | Los Angelas | CA | US | $100,000.00 |
| 2008 | “Mitochondrial Fusion Defects in Neurological Disease.” | Investigator Grant | Elizabeth Anne Amiott, PhD | University of Utah | Salt Lake City | UT | US | $98,300.00 |
| 2008 | “The role of the PINK1/Parkin pathway in mitochondrial integrity.” | Investigator Grant | Leo Joseph Pallanck, PhD | University of Washington | Seattle | WA | US | $125,000.00 |
| 2008 | “OXPHOS modulation by mitochondrial protein phosphorylation in mtDNA mutant cells.” | Investigator Grant | Rebeca Acin-Peres, PhD | Weill Medical College, Cornell University | New York | NY | US | $99,990.00 |
| 2008 | “Evaluation of novel zinc finger nucleases as a means to target m.3243A>G in vivo.” | Investigator Grant | Sion L. Williams, PhD | University of Miami | Miami | FL | US | $99,998.00 |
| 2008 | “Utilization of knockout mouse models to elucidate the importance of the de novo mitochondrial fatty acid synthesis pathway in mitochondrial function.” | Investigator Grant | Stuart Smith, PhD, DSc | Children’s Hospital & Research Institute at Oakland | Oakland | CA | US | $128,563.00 |
| 2008 | “Selective alteration of mitochondrial gene expression via modulation of the dual-function h-mtTFB1 and B2 factors as a potential therapy for mitochondrial diseases.” | Investigator Grant | Timothy E. Shutt, PhD | Yale University School of Medicine | New Haven | CT | US | $99,998.00 |
| 2009 | “Mitochondrial dysfunction, exercise intolerance and myopathy in skeletal muscle-specific PGC-1α-deficient mice.” | Investigator Grant | Christoph Handschin, PhD | University of Basel | Basel | | SE | $130,000.00 |
| 2009 | “Development of a Novel Mass Spectrometric Approach to Measure Mitochondrial Oxidative Damage In Vivo.” | Investigator Grant | Michael P. Murphy, BA, PhD | Medical Research Council, Dunn Human Nutrition Unit | Cambridge | | UK | $110,000.00 |
| 2009 | “Selecting for Transformation with Mitochondrial DNA.” | Investigator Grant | Patrick H. O’Farrell, PhD | University of California-San Francisco | San Francisco | CA | US | $81,857.00 |
| 2009 | “Investigating the Rescue of Mitochondrial Dysfunction by SIRT1 and Calorie Restriction.” | Investigator Grant | Sarika Srivastava, PhD | Harvard Medical School | Boston | MA | US | $90,804.00 |
| 2010 | “Spinocerebellar ataxia with axonal neuropathy: defining the mitochondrial component.” | Investigator Grant | Cornelius Franciscus Boerkoel, MD, PhD | University of British Columbia | Vancouver | BC | CA | $130,348.00 |
| 2010 | “Pilot study to investigate the efficacy of L-arginine therapy on endothelium-dependent vasodilation & mitochondrial metabolism in MELAS syndrome.” | Investigator Grant | Ingrid Tein, MD | Hospital for Sick Children | Toronto | ON | CA | $75,000.00 |
| 2010 | “DMCA and Barth Syndromes- similar diseases caused by defects in mitochondrial protein import?” | Investigator Grant | Robert E. Jensen, PhD | Johns Hopkins University | Baltimore | MD | US | $110,000.00 |
| 2011 | “Regulatory mechanisms governing TFAM-mediated mtDNA copy number control” | Investigator Grant | Brett Kaufman, PhD | University of Pennsylvania | Philadelphia | PA | US | $120,000.00 |
| 2011 | “Deficiencies of tRNA maturation and the pathogenesis of mitochondrial diseases.” | Investigator Grant | Miguel Garcia-Diaz, PhD | Stony Brook University | Stony Brook | NY | US | $100,000.00 |
| 2011 | “Therapeutic Interventions for Pyruvate Dehydrogenase Deficiency.” | Investigator Grant | Nicola Brunetti-Pierri, MD | Telethon Institute of Genetics and Medicine Fondazione Telethon | Pozzuoli | | IT | $120,000.00 |
| 2011 | “Driving Selection Against Heteroplasmic Mitochondrial DNA Mutations by Enhancing Mitophagy.” | Investigator Grant | Ying Dai, MD, PhD | Beth Israel Deaconess Medical Center | Boston | MA | US | $80,000.00 |
| 2012 | “Estrogen mediated regulation of mitochondrial biogenesis and functions: possible therapeutic implications for Leber’s hereditary optic neuropathy.” | Investigator Grant | Carla Giordano, MD, PhD | University of Rome | Rome | | IT | $108,000.00 |
| 2012 | “Ultra-high-throughput screening for mitochondrial enhancers as novel targets for treating mitochondrial diseases.” | Investigator Grant | David A. Sinclair, PhD | Harvard Medical School | Boston | MA | US | $80,000.00 |
| 2012 | “Preclinical studies for the gene therapy of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Long-term follow-up and use of adeno-associated viral vectors.” | Investigator Grant | Javier Torres-Torronteras, PhD | Vall d’Hebron Research Institute | Barcelona | | ES | $93,000.00 |
| 2012 | “Rescuing complex I defective mitochondria and target organs with methylene blue.” | Investigator Grant | Mariana G. Rosca, MD | Case Western Reserve University | Cleveland | OH | US | $100,000.00 |
| 2012 | “Mechanisms and treatment of mitochondrial deafness.” | Investigator Grant | Nuno Raimundo, PhD | Yale University School of Medicine | New Haven | CT | US | $50,000.00 |
| 2012 | “Multifunctional Radical Quenchers (MRQs) for the Treatment of Mitochondrial Disorders- Evaluation in Cellular Disease Models” | Investigator Grant | Sidney M. Hecht, PhD | Arizona State University Center for BioEnergetics | Tempe | AZ | US | $105,293.00 |
| 2012 | “Multifunctional Radical Quenchers (MRQs) for the Treatment of Mitochondrial Disorders- Exploration of the MRQ B Series” | Investigator Grant | Sidney M. Hecht, PhD | Arizona State University, Center for BioEnergetics | Tempe | AZ | US | $102,836.00 |
| 2012 | “Testing Gene Therapy in an Animal Model of Mitochondrial Respiratory Chain Disorders.” | Investigator Grant | William James Craigen, MD, PhD | Baylor College of Medicine | Waco | TX | US | $100,000.00 |
| 2013 | “A Genome-wide RNAi Screening to Identify New Genes Involved in Mitochondrial Diseases.” | Investigator Grant | Alberto Sanz-Monterro, PhD | University of Tampere | Tampere | | FI | $100,000.00 |
| 2013 | “Hypogonadotropic hypogonadism in mitochondrial disease: prevalence, phenotypic heterogeneity and hormonal spectrum variations in a tertiary hospital cohort.” | Clinical Fellowship Training Grant | Amel Karaa, MD | Harvard Medical School and Massachusetts General Hospital | Boston | MA | US | $70,000.00 |
| 2013 | “Characterization of disease-specific mitochondrial stress-signaling pathways in vivoas potential therapeutic targets for mitochondrial diseases.” | Investigator Grant | Gerald Shadel, PhD | Yale University | New Haven | CT | US | $90,000.00 |
| 2013 | “Using mtDNA mutator mouse-derived lineages to generate mouse models of human mitochondrial diseases.” | Investigator Grant | James Stewart, PhD | Max Planck Institute for the Biology of Ageing | Cologne | | DE | $90,000.00 |
| 2013 | “Utilizing dynamically regulated phosphorylation as a means to modulate mitochondrial metabolism.” | Postdoctoral Grant - accelerators | Natalie Niemi, PhD | University of Wisconsin | Madison | WI | US | $75,000.00 |
| 2013 | “A Human Reprogrammed-Cell Model of MELAS.” | Investigator Grant | Rajesh Ambasudhan, PhD | Sanford-Burnham Medical Research Institute | San Diego | CA | US | $84,000.00 |
| 2014 | “Developing specific mitochondrial nucleases to eliminate mutant mtDNA.” | Investigator Grant | Carlos Moraes, PhD | University of Miami Miller School of Medicine | Miami | FL | US | $120,000.00 |
| 2014 | “Pathogenesis of myopathies caused by mitochondrial phosphate carrier mutations.” | Investigator Grant | Erin Seifert, PhD | Thomas Jefferson University | Philadelphia | PA | US | $120,000.00 |
| 2014 | “Modulation of GSK3 activity to maintain neuronal survival in complex IV deficient mouse.” | Investigator Grant | Francisca Diaz, PhD | University of Miami Miller School of Medicine | Miami | FL | US | $80,000.00 |
| 2014 | “Development of an autologous myogenic stem cell therapy for carriers of a heteroplasmic mtDNA mutation, a proof of principle study.” | Investigator Grant | Hubert Smeets, PhD | Maastricht University | Maastricht | | NE | $25,000.00 |
| 2014 | “Improving CNS delivery of brain antioxidants after acute metabolic decompensation in mitochondrial disease.” | Investigator Grant | Michael James Bell, MD | University of Pittsburgh | Pittsburgh | PA | US | $23,679.00 |
| 2014 | “Targeted delivery of copper to mitochondria: investigating its therapeutic potential for the effective treatment of patients with mutations in SCO1 and SCO2.” | Investigator Grant | Scot Leary, PhD | University of Saskatchewan | Saskatoon | SK | CA | $120,000.00 |
| 2015 | “Vitamins B as Therapy for Disorders with mtDNA Instability.” | Investigator Grant | Anu Suomalainen Wartiovaara MD, PhD | University of Helsinki | Helsinki | | FI | $100,000.00 |
| 2015 | “Kinetics of Mitochondrial Complex Assembly.” | Investigator Grant | Daniel F. Bogenhagen, MD | Stony Brook University | Stony Brook | NY | US | $100,000.00 |
| 2015 | “Allotopic RNA Rescue of LHON Mouse Model.” | Investigator Grant | Dr. Atif Towheed, PhD | Children’s Hospital of Philadelphia | Philadelphia | PA | US | $70,000.00 |
| 2015 | “Utility of FGF21 and GDF15 as Diagnostic and Prognostic Biomarkersof Mitochondrial Respiratory Chain Disorders.” | Investigator Grant | John Christodoulou, PhD | Children’s Hospital at Westmead | Sydney | | AU | $140,000.00 |
| 2015 | “Validation of an Observer Reported Outcome (ObsRO) Measure of Home Functionality in Children with Pyruvate Dehydrogenase Complex Deficiency (PDCD).” | Investigator Grant | Peter W. Stacpoole, MD, PhD | University of Florida | Gainesville | FL | US | $24,898.00 |
| 2015 | “Characterizing the Function of the Atypical Mitochondrial Kinase ADCK3.” | Investigator Grant | Sara M. Nowinski, PhD | University of Utah | Salt Lake City | UT | US | $70,000.00 |
| 2016 | "Quality Control of Unimported Mitochondrial Precursor Proteins" | Investigator Grant | Adam Hughes, PhD | University of Utah School of Medicine | Salt Lake City | UT | US | $100,000.00 |
| 2016 | "Molecular Mechanisms for Suppression of Mitochondrial Disease by Acarbose" | Postdoctoral Grant - accelerators | Alessandro Bitto, PhD, | University of Washington Medical Center | Seattle | WA | US | $70,000.00 |
| 2016 | "Investigating the Pathogenesis of C12orf65 Deficiency in Mitochondrial Translation and Mitochondrial Disease" | Investigator Grant | Brendan J. Battersby, PhD, Research Director | University of Helsinki | Helsinki | | FI | $70,000.00 |
| 2016 | Cerebral Folate Deficiency | Investigator Grant | William A. Gahl, MD, PhD | National Human Genome Research Institute | Bethesda | MD | US | $54,500.00 |
| 2016 | "Interrogating the Mitochondrial Interactome Using BioID" | Investigator Grant | Eric A. Shoubridge, PhD | McGill University | Montreal | QB | CA | $75,000.00 |
| 2016 | "Manipulating the Permeability Transition Pore to Ameliorate Neonatal Heart Failure" | Investigator Grant | George A. Porter, Jr., MD, PhD | University of Rochester Medical Center | Rochester | NY | US | $115,042.00 |
| 2016 | "Mitochondrial Complexome Profiling Provides a Novel Tool to Diagnose and Understand Complex I Deficiency" | Investigator Grant | Leo Nijtmans, PhD | Radboud University Medical Centre | Nijmegen | | NL | $40,000.00 |
| 2016 | "Phenylbutyrate Therapy for Pyruvate Dehydrogenase Deficiency" | Investigator Grant | Nicola Brunetti-Pierri, MD, FACMG | Telethon Institute of Genetics and Medicine | Pozzuoli | | IT | $25,000.00 |
| 2016 | "Development and Validation of a New Outcome Measure in Mitochondrial Disease" | Investigator Grant | Zarazuela Zolkipli Cunningham, MBChB MRCP | Children’s Hospital of Philadelphia | Philadelphia | PA | US | $25,000.00 |
| 2017 | "Developing personalized mitochondrial disease treatment for SURF1 disease patients by modeling effects of candidate therapies in human patient cell and zebrafish animal models" | Investigator Grant | Marni Falk, MD | Children's Hospital of Philadelphia | Philadelphia | PA | US | $25,450.00 |
| 2017 | “A Single Blood Draw Test of Mitochondrial Disease” | Postdoctoral Grant - accelerators | Melissa Anne Walker, MD, PhD | Massachusetts General Hospital | Boston | MA | US | $100,000.00 |
| 2017 | Identification of SLC Family Members as Predictive Biomarkers for Mitochondrial Disease” | Investigator Grant | Prashant Mishra, MD, PhD | University of Texas Southwestern Medical Center; Children’s Research Institute | Dallas | TX | US | $100,000.00 |
| 2017 | “Photopic Negative Response as an Objective Biomarker in Mitochondrial Disease” | Investigator Grant | Rustum Karanjia, MD, PhD | University of Ottawa | Ottawa | ON | CA | $100,000.00 |
| 2017 | “Study of Mouse Models of Mitochondrial Optic Neuropathies” | Investigator Grant | Alfredo Sadun, MD, PhD | Doheny Eye Institute | Pasadena | CA | US | $25,000.00 |
| 2017 | “LHON Mood Study” | Investigator Grant | Alfredo Sadun, MD, PhD | Doheny Eye Institute | Pasadena | CA | US | $25,000.00 |
| 2017 | "Pearson Syndrome Natrual History Study - Travel Funds Grant" | Investigator Grant | Sumit Parikh, MD | Cleveland Clinic | Cleveland | OH | US | $5,000.00 |
| 2019 | "Identification of novel compounds to treat rare mitochondrial diseases" | Postdoctoral Grant - accelerators | Arwen Gao, PhD | EPFL - Lab of Integrative Systems Physiology | Lausanne | | CH | $50,000.00 |
| 2019 | "Structural and Functional Characterization of COQ9 in Facilitating Coenzyme Q Biosynthesis and Complex Q Formation" | Postdoctoral Grant - accelerators - Family Funded | Rachel Guerra, PhD | Morgridge Institute for Research | Madison | WI | US | $50,000.00 |
| 2019 | "Manipulating Mitochondrial Metabolism Via The Mitochondrial Derived Compartment Pathway" | Postdoctoral Grant - accelerators - Family Funded | Zachary Wilson, PhD | University of Utah | Salt Lake City | UT | US | $50,000.00 |
| 2019 | "Can novel mitochondria-targeted hydrogen sulfide delivery molecules restore cellular bioenergetics in primary mitochondrial disease?" | Investigator Grant | Matthew Whiteman, PhD | University of Exeter | Exeter | | UK | $200,000.00 |
| 2019 | "Natural History of Mitochondrial Myopathy" | Investigator Grant | Zarazuela Zolkipli Cunningham, MBChB MRCP | Children's Hospital of Philadelphia | Philadelphia | PA | US | $100,000.00 |
| 2020 | MEPAN Study | Family Impact Fund Grant | Deborah Murdoch, MD, PhD | Children's Hospital of Philadelphia | Philadelphia | PA | US | $199,710.00 |
| 2020 | Leigh Syndrome Natural History Study | LSIC Roadmap Project Grant | Robert McFarland, PhD | Newcastle University | Newcastle upon Tyne | | UK | $50,000.00 |
| 2020 | "Mechanisms of protein assembly underlying mitochondrial DNA maintenance but altered in early-onset neurodegenerative disorders" | Investigator Grant | Breann Brown, PhD | Vanderbilt University | Nashville | TN | US | $100,000.00 |
| 2020 | "Implementation of the CRISPR gene editing technology Plasmids - toward the curing of mitochondrial diseases caused by mutations in mitochondrial DNA" | Investigator Grant | Hajime Sakai, PhD | NAPIGEN | Wilmington | DE | US | $100,000.00 |
| 2020 | Investigating intrinsic and extrinsic factors influencing mitochondrial heteroplasmy in mt-tRNA mutation-linked disease | Postdoctoral Grant - accelerators | Kinsley Bell, PhD | Stanford University | Stanford | CA | US | $50,000.00 |
| 2020 | "Effect of Putative Therapeutic Interventions on Cultured Skin Fibroblasts from Patients with Identified Pathological Mutations for Mitochondrial Disease" | Gateway to Mitochondrial Medicine Grant | Julia Stokes | Seattle Children's Hospital | Seattle | WA | US | $5,000.00 |
| 2020 | "An ATP synthesis assay to evaluate genetic variants in complex V" | Gateway to Mitochondrial Medicine | Kaz M. Knight | University of Colorado Anschultz | Denver | CO | US | $5,000.00 |
| 2020 | "Impact of COVID-19 on People Living with Rare Disease and Their Families" | Gateway to Mitochondrial Medicine | Kevin Wongsodirdjo | Columbia University | New York | NY | US | $5,000.00 |
| 2020 | "Effect of Putative Therapeutic Interventions on Cultured Skin Fibroblasts from Patients with Identified Pathological Mutations for Mitochondrial Disease" | Gateway to Mitochondrial Medicine | Lilly Izaelia Lee | University of California San Diego | San Diego | CA | US | $5,000.00 |
| 2020 | "Determination of disease-causing variant frequencies in genes associated with pyruvate dehydrogenase deficiency" | Gateway to Mitochondrial Medicine | Nikki Ducich | University Hospitals Cleveland Medical Center | Cleveland | OH | US | $5,000.00 |
| 2020 | "Intellectual disability and mitochondrial disease: A cohort study" | Gateway to Mitochondrial Medicine | Rory Tinker | Children's Hospital of Philadelphia | Philadelphia | PA | US | $5,000.00 |
| 2021 | Deletion Syndrome Roadmap Project | Family Impact Fund Grant - Cavan McGovern Impact Fund | Samantha Lewis, PhD | University of California - Berkeley | Berkeley | CA | US | $50,000.00 |
| 2021 | "Modulation of the nuclear epigenome as a new strategy for mitochondrial DNA heteroplasmy shift" | Postdoctoral Grant - accelerators | Lia Mayorga, PhD | Instituto de Histolgoia y Embriologia de Mendoza (IHEM) | Mendoza | | AR | $50,000.00 |
| 2021 | "ATPIF1 Expression in Mitochondrial Disease" | Gateway to Mitochondrial Medicine | Dana Strode | University of Colorado | Denver | CO | US | $5,000.00 |
| 2021 | "Efficacy of Exercise in Patients with Mitochondrial Myopathy" | Gateway to Mitochondrial Medicine | Isaac T. Martin | Children's Hospital of Philadelphia | Philadelphia | PA | US | $5,000.00 |
| 2021 | "Improving emergency care for mitochondrial patients" | Gateway to Mitochondrial Medicine | Jennifer Yang | University of California San Diego | San Diego | CA | US | $5,000.00 |
| 2021 | "Developing novel therapeutics for Leber Hereditary Optic Neuropathy (LHON) and utilizing in vitro models" | Gateway to Mitochondrial Medicine | Joshua P. Nederveen | McMaster University | Hamilton | ON | CA | $5,000.00 |
| 2021 | "Development of a single-chain mitochondrial base editor" | Gateway to Mitochondrial Medicine | Santiago Restrepo-Castillo | MAYO Clinic | Rochester | MN | US | $5,000.00 |
| 2021 | "Time to harmonize mitochondrial syndromes classification: a consensus from the North American Mitochondrial Disease Consortium (NAMDC)" | Gateway to Mitochondrial Medicine | Valentina Emmanuele | Columbia University | New York | NY | US | $5,000.00 |
| 2021 | Combining gene replacement and focused ultrasound to treat Leigh Syndrome | LSIC Roadmap Project Grant | Michael Decressac, PhD | Universite Grenoble-Alpes | Grenoble | | FR | $30,000.00 |
| 2021 | Induced Pluripotent stem cells (iPSC)-driven drug repositioning for Leigh Syndrome | LSIC Roadmap Project Grant | Alessandro Prigione, PhD/ Dao-Fu Dai, PhD | Heinrich Heine University/University of Iowa | Dusseldorf | | DE | $40,000.00 |
| 2021 | Gene therapy in mouse models of Leigh Syndrome | LSIC Roadmap Project Grant | Massimo Zeviani, MD, PhD | University of Padova | Padova | | IT | $50,000.00 |
| 2021 | Using a variety of pre-clinical disease motels to identify novel drug candidates for the treatment of Leigh Syndrome | LSIC Roadmap Project Grant | Roan Louw, PhD | North-West University | Potchefstroom | | ZA | $8,000.00 |
| 2021 | Safety, Efficacy and Mechanism of a Nicotinamidated Fumarate for Leigh Syndrome | LSIC Roadmap Project Grant | Gino Cortopassi, PhD | University of California - Davis | Davis | CA | US | $22,000.00 |
| 2022 | "Exploring the etiologies of multiple low level mitochondrial DNA deletions in muscle tissues" | Family Impact Fund Grant - Hayley Leib Impact Fund | Jing Wang, MD, FACMG, ASCP | Children's Hospital of Philadelphia | Philadelphia | PA | US | $100,000.00 |
| 2022 | "Pre-clinical study on novel treatment strategies for RRM2B disease" | Postdoctoral Grant - accelerators | Sara Carli, PhD | Universita di Bologna | Bologna | | IT | $50,000.00 |
| 2022 | "Generation of innovative gene-independent therapeutic strategies for mitochondrial optic neuropathies (MONs)" | Postdoctoral Grant | Filomena Massa, PhD | Telethon Institute of Genetics and Medicine | Pozzuoli | | IT | $50,000.00 |
| 2022 | "Interrogating cell death mechanisms and identifying therapeutic leads in zebrafish surf1-/- models of Leigh syndrome" | Postdoctoral Grant | Leonard Berg, MD | Children's Hospital of Philadelphia | Philadelphia | PA | US | $50,000.00 |
| 2022 | "A reference guide for functional mitochondrial analyses, a new tool in the mitochondrial disease diagnosis repertoire" | Gateway to Mitochondrial Medicine | Laura Teresa Forero Zapata | University of California San Diego | San Diego | CA | US | $5,000.00 |
| 2022 | "Dysmorphology in Mitochondrial Disease" | Gateway to Mitochondrial Medicine | Mary Higgins | Children's Hospital of Philadelphia | Philadelphia | PA | US | $5,000.00 |
| 2022 | "Characterization of a novel MT-TL1 pathogenic variant causing late-onset chronic progressive external opthalmoplegia-plus" | Gateway to Mitochondrial Medicine | Amber Tucker | Columbia University | New York | NY | US | $7,500.00 |
| 2022 | "Metabolism and Epigenetics of Uveal Melanoma" | Gateway to Mitochondrial Medicine | Piotr Kopinksi | MAYO Clinic | Rochester | MN | US | $5,000.00 |
| 2022 | "Pathogenic variants in MRPS18C cause a complex mitochondrial neurocardiac disorder" | Gateway to Mitochondrial Medicine | Jessica Lee | University of Colorado | Denver | CO | US | $5,000.00 |
| 2022 | "Harnessing the potential of transcriptional adaptation for patients with rare mitochondrial gentic disorders" | Gateway to Mitochondrial Medicine | Adriana Morales Gomez | MAYO Clinic | Rochester | MN | US | $5,000.00 |
| 2022 | "Understanding the impact of SARS-CoV-2 on leukocyte mitochondrial function in MELAS patients and healthy, sex- and age matched controls." | Gateway to Mitochondrial Medicine | Donald Xhuti | McMaster University | Hamilton | ON | CA | $7,500.00 |
| 2022 | "Understanding the impact of SARS-CoV-2 on leukocyte mitochondrial function in MELAS patients and healthy, sex- and age matched controls." | Gateway to Mitochondrial Medicine | Joshua P. Nederveen | McMaster University | Hamilton | ON | CA | $5,000.00 |
| 2023 | Leigh Syndrome - LSRP DCC Year 1 | LSIC Roadmap Project Grant | Marni Falk, MD | Children's Hospital of Philadelphia | Philadelphia | PA | US | $40,089.00 |
| 2023 | Leigh Syndrome Natural History Study | LSIC Roadmap Project Grant | | Children's Hospital of Philadelphia, UT Health, Akron Children's Hospital and University of California - San Diego | Akron | OH | US | $90,000.00 |
| 2023 | Digital Video Assessment for PolG/PMM Patients | Infrastructure Grant | Siri Bolding, PhD | Emmes | Rockville | MD | US | $200,000.00 |
| 2023 | Perlara Leigh Syndrome Roadmap Project | Family Impact Fund Grant - Nina Hall Impact Fund | Ethan Perlstein, PhD | Perlara | San Francisco | CA | US | $72,500.00 |
| 2023 | "The role of microglia in AIFM1-associated mitochondrial disease" | Gateway to Mitochondrial Medicine | Ryan Liao | Seattle Children's Hospital | Seattle | WA | US | $5,000.00 |
| 2023 | "Systematic evaluation of laboratory primary endpoints of untargeted therapeutics for pyruvate dehydrogenase complex deficiency" | Gateway to Mitochondrial Medicine | Anisha Verma | University of Pittsburgh Medical Center | Pittsburgh | PA | US | $5,000.00 |
| 2023 | "Resilience and coping in parents of individuals with primary mitochondrial disease: Quantitative and qualitative assessment" | Gateway to Mitochondrial Medicine | Camille Brown | Penn University | Philadelphia | PA | US | $5,000.00 |
| 2023 | "Whole genome sequencing for the diagnosis of mitochondrial disease" | Gateway to Mitochondrial Medicine | Mallory Owen | University of California - San Diego | San Diego | CA | US | $5,000.00 |
| 2023 | "Establishing Embryonic Viability in GUK1-Deficient Mouse Model through Forodesine Treatment: A Potential Therapeutic Approach" | Gateway to Mitochondrial Medicine | Agustin Hidalgo-Gutierrez | Columbia University | New York | NY | US | $5,000.00 |
| 2023 | "Development of in vitro models of the pathogenic m.3242G>A variant" | Gateway to Mitochondrial Medicine | Santiago Restrepo-Castillo | MAYO Clinic | Rochester | MN | US | $5,000.00 |
| 2023 | "Probing the Pathogenic Mechanisms of Parkinsonism-Like Features in a Novel Primary Cell Model for Leigh Syndrome" | Investigator Grant | Anthony Grillo, MD, PhD | University of Cincinnati | Cincinnati | OH | US | $100,000.00 |
| 2023 | "Pilot Study of Apple Watches for Monitoring Patients with Mitochondrial Disease." | Clinical Trial Readiness Grant | Anthony Ford-Hutchinson, PhD | RiboNova, Inc. | Wynnewood | PA | US | $100,000.00 |
| 2023 | "The Role of Metaxins in Mitochondrial Health and Homeostasis" | Postdoctoral Grant - Family Funded | Jonathan Dietz, PhD | Waksman Institute - Rutgers | Piscataway | NJ | US | $50,000.00 |
| 2023 | "Mitochondrial ribosome signaling and survival mechanisms in mitochondrial disease" | Postdoctoral Grant - accelerators | Conor Ronayne, PhD | Dana Farber Cancer Institute | Boston | MA | US | $50,000.00 |
| 2023 | "Leveraging a preclinical animal model to repurpose FDA approved drugs for mtDNA depletion syndromes" | Postdoctoral Grant - Family Funded | Tejashree Waingankar, PhD | University of California - Berkeley | Berkeley | CA | US | $50,000.00 |
| 2023 | "Studies toward repurposing drugs to treat mitochondrial disease patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)" | Family Fund Impact Grant - Sterchi, Keifeer, Ritterbushes and Kindbom Families | Tamas Kozick, MD, PhD | Mount Sinai | New York | NY | US | $106,000.00 |
| 2012-2023 | Mitochondrial Disease Sequence Data Resource Consortium | Infrastructure Grant | | Children's Hospital of Philadelphia | Philadelphia | PA | US | $288,000.00 |
| 2012-2023 | North American Mitochondrial Disease Consortium | Infrastructure Grant | | Columbia University | New York | NY | US | $300,000.00 |
| 2024 | "Research toward the development of therapies for MEPAN" | Family Fund Impact Grant - Breslow Family Fund | Deborah Murdoch, MD, PhD | Children's Hospital of Philadelphia | Philadelphia | PA | US | $450,000.00 |
| 2024 | "Single Large-Scale mtDNA Deletion (SLSMD) Syndrome Research Program" | Family Fund Impact Grant - McGovern/Satcher/CPEO/KSS | Suraiya Haroon, PhD | Children's Hospital of Philadelphia | Philadelphia | PA | US | $200,000.00 |
| 2024 | "Project Butterfly" | Family Fund Impact Grant - Bertucci Family | Michio Hirano, MD, PhD | Columbia University | New York | NY | US | $23,000.00 |
| 2024 | "Prevalence of Primary Mitochondrial and Metabolic Disorders in the Nephrotic Syndrome Study Network" | Gateway to Mitochondrial Medicine | Daniel Schecter, MD, MS | Mount Sinai | New York | NY | US | $5,000.00 |
| 2024 | "Evaulating the role of mitophagy in muscle cell differentiation and regeneration oin an iPSC-derived skeletal muscle model of Barth Syndrome" | Gateway to Mitochondrial Medicine | Olivia Sniezek Carney, BS | University of Pittsburgh | Pittsburgh | PA | US | $5,000.00 |
| 2024 | "Clinical presentations of Primary Hyperoxaluria 3 in pediatric and adult HOGA1 carrier populations" | Gateway to Mitochondrial Medicine | Sohum Purao, BS, MBA | Baylor College of Medicine | Houston | TX | US | $5,000.00 |
| 2024 | "Prospective analysis of UPMC patients with specific amino acids ratios to identify those with pyruvate dehydrogenase deficiency or other mitochondrial diseases" | Gateway to Mitochondrial Medicine | Bianca Seminotti, MS, PhD | Children's Hospital Pittsburgh | Pittsburgh | PA | US | $5,000.00 |
| 2024 | "Exploring the role of platelet/plasma mitochondria delivery in mitochondrial diseases: A Potential Therapeutic Approach" | Gateway to Mitochondrial Medicine | Jieru Egeria Lin, MD, PhD | Columbia University | New York | NY | US | $5,000.00 |
| 2024 | "Assessing Neurodevelopmental Outcomes in Mitochondrial Disease" | Gateway to Mitochondrial Medicine | Fatima Alkhyeli, MD | UC San Diego | San Diego | CA | US | $5,000.00 |
| 2024 | "Utilizing long-read sequencing to decipher the genomic architecture of Early-Onset Parkinson's Disease, a mitochondrial disease" | Gateway to Mitochondrial Medicine | Ngan Tran, BA | MAYO Clinic | Rochester | MN | US | $5,000.00 |
| 2024 | "Elucidating mechanisms of cycloheximide to treat primary mitochondrial respiratory chain disease" | Gateway to Mitochondrial Medicine | Shrey Dalwadi, BS | Children's Hospital of Philadelphia | Philadelphia | PA | US | $5,000.00 |
| 2024 | "Antisense Oligonucleotides for Splice Sorrection in Mitochondrial Disorders" | Investigator Grant | Holger Prokisch, PhD | Technical University of Munich | Munich | | DE | $100,000.00 |
| 2024 | "Dysregulation of MTORC1 in human cell models of Mitochondrial Complex V deficiency" | Postdoctoral Grant - accelerators | Kristen G. Navarro, PhD | Children's Hospital of Philadelphia | Philadelphia | PA | US | $50,000.00 |
| 2024 | "Implications and Novel Therapeutic Insights on Mitochondrial Integrity in Hematopoiesis and Immune Balance in the context of Mitochondrial Diseases" | Postdoctoral Grant - Family Funded | Raquel Justo-Mendez, PhD | IRB Barcelona | Barcelona | | ES | $50,000.00 |
| 2024 | "Unveiling the Role of Secreted Mitochondria in Extracellular Vesicles: Implications for Primary Mitochondrial Diseases" | Postdoctoral Grant - Family Funded | Daniel Lagos, PhD | University of Cambridge | Cambridge | | GB | $50,000.00 |
