Historical Grants

UMDF Historical Research Grants

YearProject TitleType of AwardInvestigatorInstitutionCountryTotal Amount Funded by UMDFCo-Funded by:
1998"Mitochondrial etiologies of pseudoobstruction and dysmotility in children"Principal Investigator GrantCarolyn BayChildren's Hospital of PittsburghUS$5,000.00
1998"Gene mutations in Leigh's Disease"Principal Investigator GrantJohn ShoffnerHorizon Molecular LaboratoryUS$30,000.00
1998"Search for Pathogenic Mitochondrial DNA Mutations Using Temporal Temperature Gradient Gel Electrophoresis (TTGE)"Principal Investigator GrantRichard BolesChildren's Hospital of Los AngelesUS$30,000.00
1999"Efficacy of Prenatal Diagnosis of Mitochondrial Diseases"Principal Investigator GrantBrian RobinsonThe Hospital for Sick ChildrenCA$8,863.00
1999"Characterization of Mitochondrial Nitric-Oxide Synthase"Principal Investigator GrantCecilia GiuliviUniversity of MinnesotaUS$31,137.00
2000"Quantitative In Vivo 1H Magnetic Resonance Spectroscopic Imaging of Cerebral Lactate as a Screening Test for Mitochondrial Disorders"Principal Investigator GrantDikoma ShunguColumbia UniversityUS$36,719.00
2000"Is oxidative damage a result of metabolic abnormalities in Alzheimer disease?"Principal Investigator GrantGeorge PerryCase Western Reserve UniversityUS$18,281.00
2001"Efficacy of prenatal diagnosis of mitochondrial diseases."Principal Investigator GrantBrian RobinsonThe Hospital for Sick ChildrenCA$15,000.00
2001"Complex I: The role of nuclear genes in disorders of childhood due to mitochondrial Complex I deficiency."Principal Investigator GrantEdwin KirkSydney Children's HospitalAU$12,000.00
2001"Biochemical Basis for Maternally Inherited Deafness"Principal Investigator GrantMin-Xin GuanChildren's Hospital Medical CenterUS$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"Principal Investigator GrantJose Hernandez-YagoInstitute for Cell ResearchES$41,085.00
2002"Electrophysiologic Properties of Neural Stem Cells from Patients with Mitochondrial Disease"Principal Investigator GrantPhilip SchwartzChildren's Hospital of Orange CountyUS$81,574.00
2002"Exercise-induced mitochondrial gene shifting: Resistance training as a therapy for sporadic mtDNA mutations"Principal Investigator GrantTanja TaivassaloInstitute for Exercise & Environmental MedicineUS$61,389.00
2002"Exploiting the potential of yeast NDI1 gene in the therapy of diseases linked with mtDNA"Principal Investigator GrantYidong BaiUniversity of Texas Health Science Center at San AntonioUS$66,000.00
2003"The Use of the Yeast CYB2 Gene As Therapy for Complex I Mutations in a C. elegans Model System"Principal Investigator GrantBernard LemireUniversity of AlbertaCA$76,780.00
2003"MtDNA complementation and recombination in mitochondrial disorders"Principal Investigator GrantGiovanni ManfrediWeill Medical College of Cornell UniversityUS$50,000.00
2003"Application of RNA interference in the study of NADH-ubiquinone oxidoreductase (complex I) assembly in mammalian mitochondria"Principal Investigator GrantImmo SchefflerUniversity of California, San DiegoUS$100,000.00
2003"Molecular Basis of Mitochondrial Membrane Dynamics: a New Paradigm of Human Disease"Principal Investigator GrantKoji OkamotoUniversity of UtahUS$83,400.00
2003"Role of Rhomboid Proteolysis in Optic Atrophy"Principal Investigator GrantMatthew FreemanLaboratory of Molecular Biology ? M.R.C.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"Principal Investigator GrantMikhail AlexeyevUniversity of South AlabamaUS$100,000.00
2004"Drug development for the regulation of respiratory chain components in mitochondria"Principal Investigator GrantBrian RobinsonHospital for Sick ChildrenCA$44,000.00
2004"Understanding the role of mitochondrial fusion in mitochondrial myopathies"Principal Investigator GrantDavid C. ChanCalifornia Institute of TechnologyUS$128,000.00
2004"GSH levels, reactive oxygen species production, lipid peroxidation, products and mitochondrial membrane potential in patients with mitochondrial disease"Principal Investigator GrantGregory M. EnnsStanford UniversityUS$34,179.00
2004"The hypoxia sensing transcription factor EPAS1/HIF-2a is a novel mitochondrial disease candidate in mice and man"Principal Investigator GrantJoseph A. GarciaUniversity of Texas SW Medical Center at DallasUS$88,852.00
2004"The nuclear-encoded gene OMI and mitochondrial disease"Principal Investigator GrantMiriam H. MeislerUniversity of MichiganUS$108,305.00
2004"Restoration of thymidine phosphorylase activity in MNGIE patients through platelets infusion"Principal Investigator GrantRamon MartiFundacio Institut Hospital Vall d'HebronES$33,776.00
2004"Protein phosphatase 2A in mitochondrial function and disease"Principal Investigator GrantStefan StrackUniversity of Iowa, Carver College of MedicineUS$88,000.00
2004"Genomic Approaches to Human Cytochrome c Oxidase Deficiency"Principal Investigator GrantVamsi K. MoothaBroad Institute, Massachusetts Institute of TechnologyUS$90,200.00
2004"Development of a method for transforming mitochondria in living mammalian cells with exogenous DNA"Principal Investigator GrantVolkmar WeissigNortheastern University, Dept. of Pharmaceutical SciencesUS$99,360.00
2005"The Mechanism of Mitochondrial Dysfunction in Paraplegin-Deficient Mice."Principal Investigator GrantElena RugarliTelethon Institute of Genetics and MedicineIT$126,500.00
2005"The assembly pathway of human cytochrome-c oxidase studied with RNA interference"Principal Investigator GrantJan-Willem TaanmanUniversity College LondonUK$86,445.00
2005"Biochemical and structural studies on mitochondrial disease mutations in methionyl-tRNA."Principal Investigator GrantLinda SpremulliUniversity of North Carolina, Chapel HillUS$110,980.00
2005"Role of mitofusin-2, a mitochondria-shaping protein mutated in Charcot-Marie-Tooth IIa, in controlling mitochondrial function and apoptosis."Principal Investigator GrantLuca ScorranoDulbecco-Telethon InstituteIT$94,000.00
2005"Molecular Basis of Mitochondrial Gene Regulation"Principal Investigator GrantMair ChurchillUniversity of Colorado Health Sciences CenterUS$116,133.00
2005"MitoPLD, a novel enzymatic regulator of mitochondrial morphology and fusion"Principal Investigator GrantMichael FrohmanStony Brook UniversityUS$141,027.00
2005"The Population prevalence of ten mtDNA mutations"Principal Investigator GrantPatrick F. ChinneryUniversity of Newcaslte upon Tyne, UKUK$162,878.00
2005"Diagnostic Utility of DHPLC in Mitochondrial Disease"Principal Investigator GrantRichard H. HaasUniversity of California, San DiegoUS$109,991.00
2005"Barth Syndrome: A Mitochondrial Disease with Insights into Cardiolipin Synthesis"Principal Investigator GrantTal Mia LewinUniversity of North Carolina, Chapel HillUS$70,625.00
2006"High throughput screening for mitochondrial enhancers"Principal Investigator GrantBrian H. RobinsonHospital for Sick ChildrenCA$125,000.00
2006"Defective biogenesis of mitochondrial beta-barrel proteins as a cause for Mohr-Tranebjaerg syndrome"Principal Investigator GrantDoron RapaportUniversity of TuebingenDE$98,000.00
2006"Mechanisms of muscle dysfunction studied in mouse models of mitochondrial myopathies"Principal Investigator GrantH†kan WesterbladKarolinska InstituteSE$122,720.00
2006"Enzymereplacement therapy: A novel approach for treating a mitochondrial disease-LAD deficiency"Principal Investigator GrantHaya Lorberboum-GalskiHebrew University of JerusalemIS$115,000.00
2006"Enzymatic, assembly and genetic studies on the human pyruvate dehydrogenase multi-enzyme complex"Principal Investigator GrantJohn Gordon LindsayUniversity of GlasgowUK$43,494.00
2006"Developing therapies for mitochondrial disease"Principal Investigator GrantMichael J. PalladinoUniversity of PittsburghUS$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"Principal Investigator GrantStephane ChironUniversity of California-San DiegoUS$98,500.00
2006"Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease"Principal Investigator GrantThomas W. O'BrienUniversity of FloridaUS$125,000.00
2006"Molecular signatures of mitochondrial disorders"Principal Investigator GrantVishal GohilMassachusetts General HospitalUS$88,850.00
2006"Animal models of human Barth syndrome, a mitochondrial cardiolipin disorder"Principal Investigator GrantZaza KhuchuaVanderbilt University Medical CenterUS$110,000.00
2007"Mitochondrial DNA synthesis and Krebs (tricarboxylic acid) cycle: the succinyl-CoA synthase."Principal Investigator GrantAnn SaadaHadassah Hebrew University Medical CenterIS$98,340.00
2007"Mutant Complex I inÿDrosophila melanogaster: a Novel Genetic Model for Mitochondrial Disease."Principal Investigator GrantBrett GrahamBaylor College of MedicineUS$111,779.00
2007"Development of high throughput mtDNA sequencing for mutation detection and heteroplasmy assessment."Principal Investigator GrantKonstantin KhrapkoBeth Israel Deaconess Medical CenterUS$110,000.00
2007"Determination of the nuclear transcriptional responses that affect animal physiopathology upon impaired mitochondrial respiratory chain function."Principal Investigator GrantLudivine WalterCornell UniversityUS$100,000.00
2007"Development of high throughput assays for mitochondrial respiratory chain function."Principal Investigator GrantMichael Paul KingThomas Jefferson UniversityUS$118,648.00
2007"Genotype-Phenotype Correlation and Genetic Modifiers in Barth Syndrome."ÿPrincipal Investigator GrantMindong RenNew York University School of MedicineUS$157,450.00
2007"Identification of novel genes associated with isolated complex I deficiency using whole genome mapping in small consanguineous families"Principal Investigator GrantOrly ElpelegHadassah Hebrew University Medical CenterIS$60,500.00
2007"Mitochondrial calcium signaling and organelle dysfunction in mitochondrial diseases: molecularÿdeterminants and regulatory mechanisms."Principal Investigator GrantPaolo PintonUniversity of FerraraIT$86,250.00
2007"Molecular genetic dissection of mitochondrial complex I assembly"Principal Investigator GrantPatrice HamelOhio State UniversityUS$114,189.00
2007"Defining copper homeostasis in the mitochondria: Recruitment and distribution of copper for the assembly of cuproenzymes."Principal Investigator GrantPaul A. CobineUniversity of UtahUS$99,000.00
2007"Increased mitochondrial biogenesis as therapy to mitochondrial myopathies."Principal Investigator GrantTina WenzUniversity of MiamiUS$94,481.00
2008"Cerium oxide nanoparticles in the treatment of mitochondrial diseases."Principal Investigator GrantBeverly A. RzigalinskiVirginia College of Osteopathic MedicineUS$101,569.00
2008"Identifying genetic modifiers of tissue-specific mitochondrial DNA segregation."Principal Investigator GrantBrendan James BattersbyUniversity of HelsinkiFI$150,000.00
2008"Evaluation of the efficacy and safety of erythrocyte encapsulated thymidine phosphorylase therapy in two patients with mitochondrial neurogastrointestional encephalomyopathy."Principal Investigator GrantBridget Elizabeth BaxSt. George's University of LondonUK$116,428.00
2008"Study of redox regulated pathways in the mitochondrion."Principal Investigator GrantDeepa Vinay DabirUniversity of California-Los AngelesUS$100,000.00
2008"Mitochondrial Fusion Defects in Neurological Disease."Principal Investigator GrantElizabeth Anne AmiottUniversity of UtahUS$98,300.00
2008"The role of the PINK1/Parkin pathway in mitochondrial integrity."Principal Investigator GrantLeo Joseph PallanckUniversity of WashingtonUS$125,000.00
2008"OXPHOS modulation by mitochondrial protein phosphorylation in mtDNA mutant cells."Principal Investigator GrantRebeca Acin-PeresWeill Medical College, Cornell UniversityUS$99,990.00
2008"Evaluation of novel zinc finger nucleases as a means to target m.3243A>G in vivo."Principal Investigator GrantSion L. WilliamsUniversity of MiamiUS$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."Principal Investigator GrantStuart SmithChildren's Hospital & Research Institute at OaklandUS$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."Principal Investigator GrantTimothy E. ShuttYale University School of MedicineUS$99,998.00
2009"Mitochondrial dysfunction, exercise intolerance and myopathy in skeletal muscle-specific PGC-1à-deficient mice."Principal Investigator GrantChristoph HandschinUniversity of BaselSE$130,000.00
2009"Development of a Novel Mass Spectrometric Approach to Measure Mitochondrial Oxidative DamageÿIn Vivo."Principal Investigator GrantMichael P. MurphyMedical Research Council, Dunn Human Nutrition UnitUK$110,000.00
2009"Selecting for Transformation with Mitochondrial DNA."Principal Investigator GrantPatrick H. O'FarrellUniversity of California-San FranciscoUS$81,857.00
2009"Investigating the Rescue of Mitochondrial Dysfunction by SIRT1 and Calorie Restriction."Principal Investigator GrantSarika SrivastavaHarvard Medical SchoolUS$90,804.00
2010"Spinocerebellar ataxia with axonal neuropathy: defining the mitochondrial component."Principal Investigator GrantCornelius Franciscus BoerkoelUniversity of British ColumbiaCA$130,348.00
2010"Pilot study to investigate the efficacy of L-arginine therapy on endothelium-dependent vasodilation & mitochondrial metabolism in MELAS syndrome."Principal Investigator GrantIngrid TeinHospital for Sick ChildrenCA$75,000.00
2010"DMCA and Barth Syndromes- similar diseases caused by defects in mitochondrial protein import?"Principal Investigator GrantRobert E. JensenJohns Hopkins UniversityUS$110,000.00
2011"Regulatory mechanisms governing TFAM-mediated mtDNA copy number control"Principal Investigator GrantBrett KaufmanUniversity of PennsylvaniaUS$120,000.00
2011"Deficiencies of tRNA maturation and the pathogenesis of mitochondrial diseases."Principal Investigator GrantMiguel Garcia-DiazStony Brook UniversityUS$100,000.00
2011"Therapeutic Interventions for Pyruvate Dehydrogenase Deficiency."Principal Investigator GrantNicola Brunetti-PierriTelethon Institute of Genetics and MedicineÿFondazione TelethonIT$120,000.00
2011"Driving Selection Against Heteroplasmic Mitochondrial DNA Mutations by Enhancing Mitophagy."Principal Investigator GrantYing DaiBeth Israel Deaconess Medical CenterUS$80,000.00
2012"Estrogen mediated regulation of mitochondrial biogenesis and functions: possible therapeutic implications for Leber's hereditary optic neuropathy."Principal Investigator GrantCarla GiordanoUniversity of RomeIT$108,000.00
2012"Ultra-high-throughput screening for mitochondrial enhancers as novel targets for treating mitochondrial diseases."Principal Investigator GrantDavid A. SinclairHarvard Medical SchoolUS$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."Principal Investigator GrantJavier Torres-TorronterasVall d'Hebron Research InstituteES$93,000.00
2012"Rescuing complex I defective mitochondria and target organs with methylene blue."Principal Investigator GrantMariana G. RoscaCase Western Reserve UniversityUS$100,000.00
2012"Mechanisms and treatment of mitochondrial deafness."Principal Investigator GrantNuno RaimundoYale University School of MedicineUS$50,000.00
2012"Multifunctional Radical Quenchers (MRQs) for the Treatment of Mitochondrial Disorders- Evaluation in Cellular Disease Models"Principal Investigator GrantSidney M. HechtArizona State University Center for BioEnergeticsUS$105,293.00
2012"Multifunctional Radical Quenchers (MRQs) for the Treatment of Mitochondrial Disorders- Exploration of the MRQ B Series"Principal Investigator GrantSidney M. HechtArizona State University, Center for BioEnergeticsUS$102,836.00
2012"Testing Gene Therapy in an Animal Model of Mitochondrial Respiratory Chain Disorders."Principal Investigator GrantWilliam James CraigenBaylor College of MedicineUS$100,000.00
2012-2023Mitochondrial Disease Sequence Data Resource ConsortiumInfrastructure GrantMarni FalkChildren's Hospital of PhiladelphiaUS$288,000.00
2012-2023North American Mitochondrial Disease ConsortiumInfrastructure GrantMichio HiranoColumbia UniversityUS$300,000.00
2013"A Genome-wide RNAi Screening to Identify New Genes Involved in Mitochondrial Diseases."Principal Investigator GrantAlberto Sanz-MonterroUniversity of TampereFI$100,000.00
2013"Hypogonadotropic hypogonadism in mitochondrial disease: prevalence, phenotypic heterogeneity and hormonal spectrum variations in a tertiary hospital cohort."Clinical Fellowship Training GrantAmel KaraaHarvard Medical School and Massachusetts General HospitalUS$70,000.00
2013"Characterization of disease-specific mitochondrial stress-signaling pathways in vivoas potential therapeutic targets for mitochondrial diseases."Principal Investigator GrantGerald ShadelYale UniversityUS$90,000.00
2013"Using mtDNA mutator mouse-derived lineages to generate mouse models of human mitochondrial diseases."Principal Investigator GrantJames Stewart Max Planck Institute for the Biology of AgeingDE$90,000.00
2013"Utilizing dynamically regulated phosphorylation as a means to modulate mitochondrial metabolism."Postdoctoral Fellow GrantNatalie NiemiUniversity of WisconsinUS$75,000.00
2013"A Human Reprogrammed-Cell Model of MELAS."Principal Investigator GrantRajesh AmbasudhanSanford-Burnham Medical Research InstituteUS$84,000.00
2014"Developing specific mitochondrial nucleases to eliminate mutant mtDNA."Principal Investigator GrantCarlos MoraesUniversity of Miami Miller School of MedicineUS$120,000.00
2014"Pathogenesis of myopathies caused by mitochondrial phosphate carrier mutations."Principal Investigator GrantErin SeifertThomas Jefferson UniversityUS$120,000.00
2014"Modulation of GSK3 activity to maintain neuronal survival in complex IV deficient mouse."Principal Investigator GrantFrancisca DiazUniversity of Miami Miller School of MedicineUS$80,000.00
2014"Development of an autologous myogenic stem cell therapy for carriers of a heteroplasmic mtDNA mutation, a proof of principle study."ÿPrincipal Investigator GrantHubert Smeets Maastricht UniversityNE$25,000.00
2014"Improving CNS delivery of brain antioxidants after acute metabolic decompensation in mitochondrial disease."ÿPrincipal Investigator GrantMichael James BellUniversity of PittsburghUS$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."ÿÿPrincipal Investigator GrantScot LearyUniversity of SaskatchewanCA$120,000.00
2015"Vitamins B as Therapy for Disorders with mtDNA Instability."ÿPrincipal Investigator GrantAnu Suomalainen Wartiovaara University of HelsinkiFI$100,000.00
2015"Kinetics of Mitochondrial Complex Assembly."ÿPrincipal Investigator GrantDaniel F. BogenhagenStony Brook UniversityUS$100,000.00
2015"Allotopic RNA Rescue of LHON Mouse Model."Postdoctoral Fellow GrantAtif TowheedChildren's Hospital of PhiladelphiaUS$70,000.00
2015"Utility of FGF21 and GDF15 as Diagnostic and Prognostic Biomarkersof Mitochondrial Respiratory Chain Disorders."ÿPrincipal Investigator GrantJohn ChristodoulouChildren's Hospital at WestmeadAU$140,000.00Mito Foundation
2015"Validation of an Observer Reported Outcome (ObsRO) Measure of Home Functionality in Children with Pyruvate Dehydrogenase Complex Deficiency (PDCD)."ÿPrincipal Investigator GrantPeter W. StacpooleUniversity of FloridaUS$24,898.00
2015"Characterizing the Function of the Atypical Mitochondrial Kinase ADCK3."Principal Investigator GrantSara M. NowinskiUniversity of UtahUS$70,000.00
2016"Quality Control of Unimported Mitochondrial Precursor Proteins"Principal Investigator GrantAdam HughesUniversity of Utah School of Medicine US$100,000.00
2016"Molecular Mechanisms for Suppression of Mitochondrial Disease by Acarbose"Postdoctoral Fellow GrantAlessandro BittoUniversity of Washington Medical Center US$70,000.00
2016"Investigating the Pathogenesis of C12orf65 Deficiency in Mitochondrial Translation and Mitochondrial Disease"Principal Investigator GrantBrendan J. BattersbyUniversity of Helsinki FI$70,000.00
2016"Cerebral Folate Deficiency"Principal Investigator GrantWilliam A. GahlNational Human Genome Research InstituteUS$54,500.00
2016"Interrogating the Mitochondrial Interactome Using BioID"Principal Investigator GrantEric A. ShoubridgeMcGill University CA$75,000.00
2016"Manipulating the Permeability Transition Pore to Ameliorate Neonatal Heart Failure"Principal Investigator GrantGeorge A. Porter, Jr.University of Rochester Medical Center US$115,042.00
2016"Mitochondrial Complexome Profiling Provides a Novel Tool to Diagnose and Understand Complex I Deficiency"Principal Investigator GrantLeo NijtmansRadboud University Medical CentreNL$40,000.00
2016"Phenylbutyrate Therapy for Pyruvate Dehydrogenase Deficiency"Principal Investigator GrantNicola Brunetti-PierriTelethon Institute of Genetics and Medicine IT$25,000.00
2016"Development and Validation of a New Outcome Measure in Mitochondrial Disease"Principal Investigator GrantZarazuela Zolkipli CunninghamChildren's Hospital of PhiladelphiaUS$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"Principal Investigator GrantMarni FalkChildren's Hospital of PhiladelphiaUS$25,450.00
2017"A Single Blood Draw Test of Mitochondrial Disease"Postdoctoral Fellow Grant Melissa Anne WalkerMassachusetts General HospitalUS$100,000.00
2017Identification of SLC Family Members as Predictive Biomarkers for Mitochondrial Disease"Principal Investigator GrantPrashant MishraUniversity of Texas Southwestern Medical Center; Children's Research InstituteUS$100,000.00
2017"Photopic Negative Response as an Objective Biomarker in Mitochondrial Disease"Principal Investigator GrantRustum KaranjiaUniversity of OttawaCA$100,000.00
2017"Study of Mouse Models of Mitochondrial Optic Neuropathies" Principal Investigator GrantAlfredo SadunDoheny Eye InstituteUS$25,000.00
2017"LHON Mood Study" Principal Investigator GrantAlfredo SadunDoheny Eye InstituteUS$25,000.00
2017"Pearson Syndrome Natrual History Study - Travel Funds Grant"Principal Investigator GrantSumit ParikhCleveland ClinicUS$5,000.00
2018Leigh Syndrome - Leigh Syndrome Roadmap Project Consortium FundingLSIC Roadmap Project GrantInternational$1,090,000.00Mito Foundation, Lily Foundation, PALS, MitoCon
2019"Identification of novel compounds to treat rare mitochondrial diseases"Postdoctoral Fellow Grant - acceleratorsArwen GaoEPFL - Lab of Integrative Systems PhysiologyCH$50,000.00
2019"Structural and Functional Characterization of COQ9 in Facilitating Coenzyme Q Biosynthesis and Complex Q Formation"Postdoctoral Fellow Grant - accelerators - Family FundedRachel GuerraMorgridge Institute for ResearchUS$50,000.00
2019"Manipulating Mitochondrial Metabolism Via The Mitochondrial Derived Compartment Pathway"Postdoctoral Fellow Grant - accelerators - Family FundedZachary WilsonUniversity of UtahUS$50,000.00
2019"Can novel mitochondria-targeted hydrogen sulfide delivery molecules restore cellular bioenergetics in primary mitochondrial disease?"Principal Investigator GrantMatthew WhitemanUniversity of ExeterUK$200,000.00
2019"Fumarates for Leigh Syndrome"LSIC Roadmap Project GrantGino CortopassiUniversity of California, DavisUS$30,000.00Mito Foundation, Lily Foundation, PALS, MitoCon
2019"The role of microglia, NAD+ and mitochondrial ROS in Leigh Syndrome"LSIC Roadmap Project GrantDao-Fu DaiUnveristy of IowaUS$15,000.00Mito Foundation, Lily Foundation, PALS, MitoCon
2019"Therapeutic efficacy of miR-181a/b down regulation in Leigh SyndromeLSIC Roadmap Project GrantBrunella FrancoFondazione TelethonIT$25,000.00Mito Foundation, Lily Foundation, PALS, MitoCon
2019"Novel dietary and pharmacological therapies in a Drosophila model of Maternally Inherited Leigh Syndrome"LSIC Roadmap Project GrantMichael PalladinoUniversity of PittsburghUS$50,000.00Mito Foundation, Lily Foundation, PALS, MitoCon
2019"iPSC-driven repositioning of PDE5 inhibitors for Leigh Syndrome patients carrying MT-ATP6 mutations"LSIC Roadmap Project GrantAlessandro PrigioneHeinrich Heine University DE$34,000.00Mito Foundation, Lily Foundation, PALS, MitoCon
2019"Leigh syndrome: Investigating outcome measure & natural history (LION) - a prospective, longitudinal cohort study"LSIC Roadmap Project GrantRobert McFarland, PhDNewcastle UniversityUK$50,000.00Mito Foundation, Lily Foundation, PALS, MitoCon
2019"Natural History of Mitochondrial Myopathy"Principal Investigator GrantZarazuela Zolkipli CunninghamChildren's Hospital of PhiladelphiaUS$100,000.00
2020"Development of Therapeutic Models for MECR-Related Disease"Family Impact Fund GrantDeborah MurdockChildren's Hospital of PhiladelphiaUS$199,710.00
2020"Mechanisms of protein assembly underlying mitochondrial DNA maintenance but altered in early-onset neurodegenerative disorders"Principal Investigator GrantBreann BrownVanderbilt UniversityUS$100,000.00
2020"Implementation of the CRISPR gene editing technology Plasmids - toward the curing of mitochondrial diseases caused by mutations in mitochondrial DNA"Principal Investigator GrantHajime SakaiNAPIGENUS$100,000.00
2020"Investigating intrinsic and extrinsic factors influencing mitochondrial heteroplasmy in mt-tRNA mutation-linked disease"Postdoctoral Fellow Grant - acceleratorsKinsley BellStanford UniversityUS$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 GrantJulia StokesSeattle Children's HospitalUS$5,000.00NAMDC
2020"An ATP synthesis assay to evaluate genetic variants in complex V"Gateway to Mitochondrial Medicine GrantKaz M. KnightUniversity of Colorado Anschultz US$5,000.00NAMDC
2020"Impact of COVID-19 on People Living with Rare Disease and Their Families"Gateway to Mitochondrial Medicine GrantKevin WongsodirdjoColumbia UniversityUS$5,000.00NAMDC
2020"Effect of Putative Therapeutic Interventions on Cultured Skin Fibroblasts from Patients with Identified Pathological Mutations for Mitochondrial Disease"Gateway to Mitochondrial Medicine GrantLilly Izaelia LeeUniversity of California San DiegoUS$5,000.00NAMDC
2020"Determination of disease-causing variant frequencies in genes associated with pyruvate dehydrogenase deficiency"Gateway to Mitochondrial Medicine GrantNikki DucichUniversity Hospitals Cleveland Medical CenterUS$5,000.00NAMDC
2020"Intellectual disability and mitochondrial disease: A cohort study"Gateway to Mitochondrial Medicine GrantRory TinkerChildren's Hospital of PhiladelphiaUS$5,000.00NAMDC
2021Deletion Syndrome Roadmap ProjectFamily Impact Fund GrantSamantha LewisUniversity of California - BerkeleyUS$50,000.00
2021"Modulation of the nuclear epigenome as a new strategy for mitochondrial DNA heteroplasmy shift"Postdoctoral Fellow Grant - acceleratorsLia MayorgaInstituto de Histolgoia y Embriologia de Mendoza (IHEM)AR$50,000.00
2021"ATPIF1 Expression in Mitochondrial Disease"Gateway to Mitochondrial Medicine GrantDana StrodeUniversity of Colorado US$5,000.00NAMDC
2021"Efficacy of Exercise in Patients with Mitochondrial Myopathy"Gateway to Mitochondrial Medicine GrantIsaac T. MartinChildren's Hospital of PhiladelphiaUS$5,000.00NAMDC
2021"Improving emergency care for mitochondrial patients"Gateway to Mitochondrial Medicine GrantJennifer YangUniversity of California San DiegoUS$5,000.00NAMDC
2021"Developing novel therapeutics for Leber Hereditary Optic Neuropathy (LHON) and utilizing in vitro models"Gateway to Mitochondrial Medicine GrantJoshua P. NederveenMcMaster UniversityCA$5,000.00NAMDC
2021"Development of a single-chain mitochondrial base editor"Gateway to Mitochondrial Medicine GrantSantiago Restrepo-CastilloMAYO ClinicUS$5,000.00NAMDC
2021"Time to harmonize mitochondrial syndromes classification: a consensus from the North American Mitochondrial Disease Consortium (NAMDC)"Gateway to Mitochondrial Medicine GrantValentina EmmanueleColumbia UniversityUS$5,000.00NAMDC
2021"Combining gene replacement and focused ultrasound to treat Leigh Syndrome"LSIC Roadmap Project GrantMichael DecressacUniversite Grenoble-AlpesFR$30,000.00Mito Foundation, Lily Foundation, PALS, MitoCon
2021"Induced Pluripotent stem cells (iPSC)-driven drug repositioning for Leigh Syndrome"LSIC Roadmap Project GrantAlessandro Prigione/Dao-Fu DaiHeinrich Heine University/University of IowaDE$40,000.00Mito Foundation, Lily Foundation, PALS, MitoCon
2021"Gene therapy in mouse models of Leigh Syndrome"LSIC Roadmap Project GrantMassimo ZevianiUniversity of PadovaIT$50,000.00Mito Foundation, Lily Foundation, PALS, MitoCon
2021"Using a variety of pre-clinical disease motels to identify novel drug candidates for the treatment of Leigh Syndrome"LSIC Roadmap Project GrantRoan LouwNorth-West UniversityZA$8,000.00Mito Foundation, Lily Foundation, PALS, MitoCon
2021"Safety, Efficacy and Mechanism of a Nicotinamidated Fumarate for Leigh Syndrome"LSIC Roadmap Project GrantGino CortopassiUniversity of California - DavisUS$22,000.00Mito Foundation, Lily Foundation, PALS, MitoCon
2022"Exploring the etiologies of multiple low level mitochondrial DNA deletions in muscle tissues"Family Impact Fund GrantJing WangChildren's Hospital of PhiladelphiaUS$100,000.00
2022"Pre-clinical study on novel treatment strategies for RRM2B disease"Postdoctoral Fellow Grant - acceleratorsSara CarliUniversita di BolognaIT$50,000.00
2022"Generation of innovative gene-independent therapeutic strategies for mitochondrial optic neuropathies (MONs)"Postdoctoral Fellow Grant Filomena MassaTelethon Institute of Genetics and MedicineIT$50,000.00
2022"Interrogating cell death mechanisms and identifying therapeutic leads in zebrafish surf1-/- models of Leigh syndrome" Postdoctoral Fellow Grant Leonard BergChildren's Hospital of PhiladelphiaUS$50,000.00
2022"A reference guide for functional mitochondrial analyses, a new tool in the mitochondrial disease diagnosis repertoire"Gateway to Mitochondrial Medicine GrantLaura Teresa Forero ZapataUniversity of California San DiegoUS$5,000.00NAMDC
2022"Dysmorphology in Mitochondrial Disease"Gateway to Mitochondrial Medicine GrantMary HigginsChildren's Hospital of PhiladelphiaUS$5,000.00NAMDC
2022"Characterization of a novel MT-TL1 pathogenic variant causing late-onset chronic progressive external opthalmoplegia-plus"Gateway to Mitochondrial Medicine GrantAmber TuckerColumbia UniversityUS$7,500.00NAMDC
2022"Metabolism and Epigenetics of Uveal Melanoma" Gateway to Mitochondrial Medicine GrantPiotr KopinksiMAYO ClinicUS$5,000.00NAMDC
2022"Pathogenic variants in MRPS18C cause a complex mitochondrial neurocardiac disorder"Gateway to Mitochondrial Medicine GrantJessica LeeUniversity of ColoradoUS$5,000.00NAMDC
2022"Harnessing the potential of transcriptional adaptation for patients with rare mitochondrial gentic disorders"Gateway to Mitochondrial Medicine GrantAdriana Morales GomezMAYO ClinicUS$5,000.00NAMDC
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 GrantDonald XhutiMcMaster UniversityCA$7,500.00NAMDC
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 GrantJoshua P. NederveenMcMaster UniversityCA$5,000.00NAMDC
2023Leigh Syndrome - LSRP Natural History StudyLSIC Roadmap Project GrantChildren's Hospital of Philadelphia, UTHealth Houston, Akron Children's Hospital and University of California - San DiegoUS$97,339.00Mito Foundation, Lily Foundation, PALS, MitoCon
2023Digital Video Assessment for PolG/PMM PatientsInfrastructure GrantCasimir/Emmes US$200,000.00POLG Foundation, Mito Foundation
2023Perlara Leigh Syndrome Roadmap ProjectFamily Impact Fund GrantEthan PerlsteinPerlaraUS$72,500.00
2023"The role of microglia in AIFM1-associated mitochondrial disease"Gateway to Mitochondrial Medicine GrantRyan LiaoSeattle Children's HospitalUS$5,000.00NAMDC
2023"Systematic evaluation of laboratory primary endpoints of untargeted therapeutics for pyruvate dehydrogenase complex deficiency"Gateway to Mitochondrial Medicine GrantAnisha VermaUniversity of Pittsburgh Medical CenterUS$5,000.00NAMDC
2023"Resilience and coping in parents of individuals with primary mitochondrial disease: Quantitative and qualitative assessment"Gateway to Mitochondrial Medicine GrantCamille BrownPenn UniversityUS$5,000.00NAMDC
2023"Whole genome sequencing for the diagnosis of mitochondrial disease"Gateway to Mitochondrial Medicine GrantMallory OwenUniversity of California - San DiegoUS$5,000.00NAMDC
2023"Establishing Embryonic Viability in GUK1-Deficient Mouse Model through Forodesine Treatment: A Potential Therapeutic Approach"Gateway to Mitochondrial Medicine GrantAgustin Hidalgo-GutierrezColumbia UniversityUS$5,000.00NAMDC
2023"Development of in vitro models of the pathogenic m.3242G>A variant"Gateway to Mitochondrial Medicine GrantSantiago Restrepo-CastilloMAYO ClinicUS$5,000.00NAMDC
2023"Probing the Pathogenic Mechanisms of Parkinsonism-Like Features in a Novel Primary Cell Model for Leigh Syndrome"Principal Investigator GrantAnthony GrilloUniversity of CincinnatiUS$100,000.00
2023"Pilot Study of Apple Watches for Monitoring Patients with Mitochondrial Disease."Clinical Trial Readiness GrantZarazuela Zolkipli-CunninghamChildren's Hospital of PhiladelphiaUS$100,000.00
2023"The Role of Metaxins in Mitochondrial Health and Homeostasis"Postdoctoral Fellow Grant - Family FundedJonathan DietzWaksman Institute - RutgersUS$50,000.00
2023"Mitochondrial ribosome signaling and survival mechanisms in mitochondrial disease"Postdoctoral Fellow Grant - acceleratorsConor Ronayne/Jonathan PalozziDana Farber Cancer InstituteUS$50,000.00
2023"Leveraging a preclinical animal model to repurpose FDA approved drugs for mtDNA depletion syndromes"Postdoctoral Fellow Grant - Family FundedTejashree WaingankarUniversity of California - BerkeleyUS$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 GrantTamas KoziczMount SinaiUS$106,000.00
2024"Research toward the development of therapies for MEPAN"Family Fund Impact Grant Deborah MurdockChildren's Hospital of PhiladelphiaUS$450,000.00
2024"Single Large-Scale mtDNA Deletion (SLSMD) Syndrome Research Program"Family Fund Impact Grant Suraiya HaroonChildren's Hospital of PhiladelphiaUS$200,000.00
2024"POLG- Project Butterfly"Family Fund Impact GrantMichio HiranoColumbia UniversityUS$23,000.00
2024"Prevalence of Primary Mitochondrial and Metabolic Disorders in the Nephrotic Syndrome Study Network"Gateway to Mitochondrial Medicine GrantDaniel SchecterMount SinaiUS$5,000.00NAMDC
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 GrantOlivia Sniezek CarneyUniversity of PittsburghUS$5,000.00NAMDC
2024"Clinical presentations of Primary Hyperoxaluria 3 in pediatric and adult HOGA1 carrier populations"Gateway to Mitochondrial Medicine GrantSohum PuraoBaylor College of MedicineUS$5,000.00NAMDC
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 GrantBianca SeminottiChildren's Hospital PittsburghUS$5,000.00NAMDC
2024"Exploring the role of platelet/plasma mitochondria delivery in mitochondrial diseases: A Potential Therapeutic Approach"Gateway to Mitochondrial Medicine GrantJieru Egeria LinColumbia UniversityUS$5,000.00NAMDC
2024"Assessing Neurodevelopmental Outcomes in Mitochondrial Disease"Gateway to Mitochondrial Medicine GrantFatima AlkhyeliUC San DiegoUS$5,000.00NAMDC
2024"Utilizing long-read sequencing to decipher the genomic architecture of Early-Onset Parkinson's Disease, a mitochondrial disease"Gateway to Mitochondrial Medicine GrantNgan TranMayo ClinicUS$5,000.00NAMDC
2024"Elucidating mechanisms of cycloheximide to treat primary mitochondrial respiratory chain disease"Gateway to Mitochondrial Medicine GrantShrey DalwadiChildren's Hospital of PhiladelphiaUS$5,000.00NAMDC
2024"Antisense Oligonucleotides for Splice Sorrection in Mitochondrial Disorders"Principal Investigator GrantHolger ProkischTechnical University of MunichDE$100,000.00
2024"Dysregulation of MTORC1 in human cell models of Mitochondrial Complex V deficiency"Postdoctoral Fellow Grant - acceleratorsKristen G. NavarroChildren's Hospital of PhiladelphiaUS$50,000.00
2024"Implications and Novel Therapeutic Insights on Mitochondrial Integrity in Hematopoiesis and Immune Balance in the context of Mitochondrial Diseases"Postdoctoral Fellow Grant - Family FundedRaquel Justo-MendezIRB BarcelonaES$50,000.00
2024"Unveiling the Role of Secreted Mitochondria in Extracellular Vesicles: Implications for Primary Mitochondrial Diseases"Postdoctoral Fellow Grant - Family FundedDaniel LagosUniversity of CambridgeGB$50,000.00
2024Leigh Syndrome - LSRP Natural History StudyLSIC Roadmap Project GrantChildren's Hospital of Philadelphia, UTHealth Houston, Akron Children's Hospital and University of California - San Diego, Murdoch Children's Research InstituteUS$84,443.00Mito Foundation, Lily Foundation, PALS, MitoCon
2025"NanoMDS ? Nanomedicines nucleotides or RNA therapeutics delivery for treating mitochondrial DNA depletion syndromes"Principal Investigator GrantCaterina GaroneUniversity of BolognaIT$100,000.00Mito Foundation
2025"Elucidating Mitochondrial Impairment in Troyer Syndrome - EMITS" Principal Investigator GrantChristian BergaminiUniversity of BolognaIT$100,000.00Mito Foundation
2025"Unraveling the Effects of SSBP1 Mutation on Vision"Principal Investigator GrantNan-Kai WongColumbia UniversityUS$100,000.00Mito Foundation
2025"Anaplerotic odd-chain fatty acid therapy for the treatment of Leigh Syndrome"Principal Principal Investigator GrantNorma FrizzelLUniversity of South CarolinaUS$100,000.00Mito Foundation
2025"Validating Digital Functional Assessments in Mitochondrial Diseases: A Multinational Smartphone and Wearable Validation Study"Clinical Trial Readiness GrantNikita KonstantinoskiyJellyfish Bio, Inc. US$50,000.00Mito Foundation
2025"Optimizing cryopreservation of muscle stem cell medicinal product for direct clinical administrationin Mitochondrial Myopathy patients"Clinical Trial Readiness GrantFlorence Van TienenMaastricht University NE$32,531.76Mito Foundation
2025"Monoclonal antibody therapy for Leigh Syndrome" Postdoctoral Fellow GrantAnastasia DimitriouUniversity of Northumbria at NewcastleUK$50,000.00Mito Foundation & Lily Foundation
2025"Therapeutic degrader molecules targeting excessive mitophagy in FBXL4- and PPTC7- associated Mitochondrial Disease" Postdoctoral Fellow Grant - Family FundedKeri-Lyn KozulWashington UniversityUS$50,000.00
2025Leigh Syndrome - LSRP Natural History StudyLSIC Roadmap Project GrantChildren's Hospital of Philadelphia, UTHealth Houston, Akron Children's Hospital and University of California - San Diego, Murdoch Children's Research InstituteUS$81,797.00Mito Foundation, Lily Foundation, PALS, MitoCon
2026"A precision medicine approach targeting cardiovascular manifestations of m.3243A>G borne primary mitochondrial disease"Graduate Student GrantLily FarmerieUniversity of PittsburghUS$25,000.00Mito Foundation
2026"mRNA-induced protein replacement therapy for mitochondrial DNA depletion syndromes"Graduate Student GrantNissa CarrodusThe University of QueenslandAU$25,000.00Mito Foundation
2026"OPERA (OPA1-Related Energetics Rescue): Translational Validation of 20 Therapeutic Candidates in OPA1 Patient-Derived Retinal Ganglion Cells"Postdoctoral Fellow GrantMelis KoseChildren's Hospital of PhiladelphiaUS$50,000.00Mito Foundation
2026"Early Pharmacological Intervention in SURF1-Related Leigh Syndrome Using Sildenafil"Postdoctoral Fellow GrantChiaro GuaronaFondazione IRCCS Carlo BestoIT$50,000.00Mito Foundation
2026"Function and regulation of the mitochondrial disease-causing metabolite transporter SLC25A19"Postdoctoral Fellow GrantAlvaro J. Narbona-PerezUniversity of UtahUS$50,000.00Mito Foundation
2026"Gene therapy in a humanized Dars2 mouse model that recapitulates LBSL neuropathology"Principal Investigator GrantJavier Tri¤anes RamosAmsterdam Medical CenterNE$100,000.00Mito Foundation
2026"Development of regulatable mitoTALENs to increase the efficacy of mitochondrial replacement therapy."Principal Investigator GrantMary HerbertMonash University AU$100,000.00Mito Foundation
2026"Next-Generation Mitochondrial ND4 Gene Therapy for LHON: Improving Delivery and Mitochondrial Targeting"Principal Investigator GrantJiang-Hui WangCentre for Eye Research AustraliaAU$100,000.00Mito Foundation
2026"Elucidating the Metabolomic and Lipidomic Changes Underlying Mitochondrial Dysfunction in WWOX-Associated Neurodegeneration"Gateway to Mitochondrial Medicine GrantAmeya WalimbeBaylor College of MedicineUS$5,000.00NAMDC
2026"Comprehensive Validation of FDA Screen Hits in a C. elegans model of FARS2 deficiency"Gateway to Mitochondrial Medicine GrantAafia AhmedChildren's Hospital of PhiladelphiaUS$5,000.00NAMDC
2026"Retrospective cohort study of neuroinflammatory overlap syndromes with primary mitochondrial diseases"Gateway to Mitochondrial Medicine GrantSamantha MakUniversity of California, San DiegoUS$5,000.00NAMDC
2026"Studying NAD booster forms to treat mitochondrial disorders in tissue culture"Gateway to Mitochondrial Medicine GrantStephanie A. LucasChildren's Hospital of ColoradoUS$5,000.00NAMDC
2026"Defining the Spectrum of Hyperinflammatory Syndromes in Primary Mitochondrial Disease"Gateway to Mitochondrial Medicine GrantDaniel BrooksBaylor College of Medicine/Texas Children's HospitalUS$5,000.00NAMDC
2026"Expanding Structure-Guided Ligand Strategies for Variant-Specific PDC Rescue"Gateway to Mitochondrial Medicine GrantZeina AbdelsalamUniversity of PittsburghUS$5,000.00NAMDC
2026"Enhancing NRF2-mediated antioxidant defense to mitigate microglial dysfunction in POLG-associated neurodegeneration"Gateway to Mitochondrial Medicine GrantJing WangUniversity of California, San DiegoUS$5,000.00NAMDC
2026"Optical Monitoring of Vascular Occlusion Response Dynamics in Patients with Mitochondrial Disease"Gateway to Mitochondrial Medicine GrantZaha ShahdadChildren's Hospital of PhiladelphiaUS$5,000.00NAMDC
2026"Ligand-Mediated Modulation of PDC Function and Fatty Acid Oxidation in PDHA1-Related"Gateway to Mitochondrial Medicine GrantAnushka Singha RoyUniversity of PittsburghUS$5,000.00NAMDC
2026"Investigating mitoribosome alterations in RMND1 patients-derived fibroblast"Gateway to Mitochondrial Medicine GrantAlba PesiniColumbia University Medical CenterUS$5,000.00NAMDC
2026Leigh Syndrome - LSRP Natural History StudyLSIC Roadmap Project GrantChildren's Hospital of Philadelphia, UTHealth Houston, Akron Children's Hospital and University of California - San Diego, Murdoch Children's Research InstituteUS$69,237.00Mito Foundation, Lily Foundation, PALS, MitoCon