Historical Grants

UMDF Historical Research Grants

Year	Project Title	Type of Award	Investigator	Institution	City	State	Total Amount Funded by UMDF	Co-Funded by:
1998	Mitochondrial etiologies of pseudoobstruction and dysmotility in children	Investigator Grant	Carolyn Bay, MD	Children's Hospital of Pittsburgh	Pittsburgh	PA	$5,000.00
1998	Gene mutations in Leigh's Disease	Investigator Grant	John Shoffner, MD	Horizon Molecular Laboratory	Dunwoody	GA	$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	$30,000.00
1999	Efficacy of Prenatal Diagnosis of Mitochondrial Diseases	Investigator Grant	Brian Robinson, PhD	The Hospital for Sick Children	Toronto	ON	$8,863.00
1999	Characterization of Mitochondrial Nitric-Oxide Synthase	Investigator Grant	Cecilia Giulivi, PhD	University of Minnesota	Rochester	MN	$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	$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	$18,281.00
2001	Efficacy of prenatal diagnosis of mitochondrial diseases.	Investigator Grant	Brian Robinson, PhD	The Hospital for Sick Children	Toronto		$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		$12,000.00
2001	Biochemical Basis for Maternally Inherited Deafness	Investigator Grant	Min-Xin Guan, PhD	Children's Hospital Medical Center	Omaha	NE	$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		$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	$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	$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	$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	$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	$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	$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	$83,400.00
2003	Role of Rhomboid Proteolysis in Optic Atrophy	Investigator Grant	Matthew Freeman, PhD	Laboratory of Molecular Biology M.R.C.	Cambridge		$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	$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	$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	$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	$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	$88,852.00
2004	The nuclear-encoded gene OMI and mitochondrial disease	Investigator Grant	Miriam H. Meisler, PhD	University of Michigan	Ann Arbor	MI	$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		$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	$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	$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	$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		$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		$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	$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		$94,000.00
2005	Molecular Basis of Mitochondrial Gene Regulation	Investigator Grant	Mair Churchill, PhD	University of Colorado Health Sciences Center	Denver	CO	$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	$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		$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	$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	$70,625.00
2006	High throughput screening for mitochondrial enhancers	Investigator Grant	Brian H. Robinson, PhD	Hospital for Sick Children	Toronto	ON	$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		$98,000.00
2006	Mechanisms of muscle dysfunction studied in mouse models of mitochondrial myopathies	Investigator Grant	Håkan Westerblad, MD, PhD	Karolinska Institute	Solna		$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		$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		$43,494.00
2006	Developing therapies for mitochondrial disease	Investigator Grant	Michael J. Palladino, PhD	University of Pittsburgh	Pittsburgh	PA	$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	$98,500.00
2006	Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease	Investigator Grant	Thomas W. O'Brien, PhD	University of Florida	Gainesville	FL	$125,000.00
2006	Molecular signatures of mitochondrial disorders	Investigator Grant	Vishal Gohil, PhD	Massachusetts General Hospital	Boston	MA	$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	$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		$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	$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	$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	$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	$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	$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		$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		$86,250.00
2007	Molecular genetic dissection of mitochondrial complex I assembly	Investigator Grant	Patrice Hamel, PhD	Ohio State University	Columbus	OH	$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	$99,000.00
2007	Increased mitochondrial biogenesis as therapy to mitochondrial myopathies.	Investigator Grant	Tina Wenz, PhD	University of Miami	Miami	FL	$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	$101,569.00
2008	Identifying genetic modifiers of tissue-specific mitochondrial DNA segregation.	Investigator Grant	Brendan James Battersby, PhD	University of Helsinki	Helsinki		$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		$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	$100,000.00
2008	Mitochondrial Fusion Defects in Neurological Disease.	Investigator Grant	Elizabeth Anne Amiott, PhD	University of Utah	Salt Lake City	UT	$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	$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	$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	$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	$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	$99,998.00
2009	Mitochondrial dysfunction, exercise intolerance and myopathy in skeletal muscle-specific PGC-1?-deficient mice.	Investigator Grant	Christoph Handschin, PhD	University of Basel	Basel		$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		$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	$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	$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	$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	$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	$110,000.00
2011	Regulatory mechanisms governing TFAM-mediated mtDNA copy number control	Investigator Grant	Brett Kaufman, PhD	University of Pennsylvania	Philadelphia	PA	$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	$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		$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	$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		$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	$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		$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	$100,000.00
2012	Mechanisms and treatment of mitochondrial deafness.	Investigator Grant	Nuno Raimundo, PhD	Yale University School of Medicine	New Haven	CT	$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	$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	$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	$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		$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	$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	$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		$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	$75,000.00
2013	A Human Reprogrammed-Cell Model of MELAS.	Investigator Grant	Rajesh Ambasudhan, PhD	Sanford-Burnham Medical Research Institute	San Diego	CA	$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	$120,000.00
2014	Pathogenesis of myopathies caused by mitochondrial phosphate carrier mutations.	Investigator Grant	Erin Seifert, PhD	Thomas Jefferson University	Philadelphia	PA	$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	$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		$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	$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	$120,000.00
2015	Vitamins B as Therapy for Disorders with mtDNA Instability.	Investigator Grant	Anu Suomalainen Wartiovaara MD, PhD	University of Helsinki	Helsinki		$100,000.00
2015	Kinetics of Mitochondrial Complex Assembly.	Investigator Grant	Daniel F. Bogenhagen, MD	Stony Brook University	Stony Brook	NY	$100,000.00
2015	Allotopic RNA Rescue of LHON Mouse Model.	Investigator Grant	Dr. Atif Towheed, PhD	Children's Hospital of Philadelphia	Philadelphia	PA	$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		$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	$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	$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	$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	$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		$70,000.00
2016	Cerebral Folate Deficiency	Investigator Grant	William A. Gahl, MD, PhD	National Human Genome Research Institute	Bethesda	MD	$54,500.00
2016	"Interrogating the Mitochondrial Interactome Using BioID"	Investigator Grant	Eric A. Shoubridge, PhD	McGill University	Montreal	QB	$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	$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		$40,000.00
2016	"Phenylbutyrate Therapy for Pyruvate Dehydrogenase Deficiency"	Investigator Grant	Nicola Brunetti-Pierri, MD, FACMG	Telethon Institute of Genetics and Medicine	Pozzuoli		$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	$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	$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	$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	$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	$100,000.00
2017	Study of Mouse Models of Mitochondrial Optic Neuropathies	Investigator Grant	Alfredo Sadun, MD, PhD	Doheny Eye Institute	Pasadena	CA	$25,000.00
2017	LHON Mood Study	Investigator Grant	Alfredo Sadun, MD, PhD	Doheny Eye Institute	Pasadena	CA	$25,000.00
2017	"Pearson Syndrome Natrual History Study - Travel Funds Grant"	Investigator Grant	Sumit Parikh, MD	Cleveland Clinic	Cleveland	OH	$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		$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	$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	$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		$200,000.00
2019	"Natural History of Mitochondrial Myopathy"	Investigator Grant	Zarazuela Zolkipli Cunningham, MBChB MRCP	Children's Hospital of Philadelphia	Philadelphia	PA	$100,000.00
2020	MEPAN Study	Family Impact Fund Grant	Deborah Murdoch, MD, PhD	Children's Hospital of Philadelphia	Philadelphia	PA	$199,710.00
2020	Leigh Syndrome Natural History Study	LSIC Roadmap Project Grant	Robert McFarland, PhD	Newcastle University	Newcastle upon Tyne		$50,000.00	Mito Foundation, Lily Foundation, PALS, MitoCon
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	$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	$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	$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	$5,000.00	NAMDC
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	$5,000.00	NAMDC
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	$5,000.00	NAMDC
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	$5,000.00	NAMDC
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	$5,000.00	NAMDC
2020	"Intellectual disability and mitochondrial disease: A cohort study"	Gateway to Mitochondrial Medicine	Rory Tinker	Children's Hospital of Philadelphia	Philadelphia	PA	$5,000.00	NAMDC
2021	Deletion Syndrome Roadmap Project	Family Impact Fund Grant - Cavan McGovern Impact Fund	Samantha Lewis, PhD	University of California - Berkeley	Berkeley	CA	$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		$50,000.00
2021	"ATPIF1 Expression in Mitochondrial Disease"	Gateway to Mitochondrial Medicine	Dana Strode	University of Colorado	Denver	CO	$5,000.00	NAMDC
2021	"Efficacy of Exercise in Patients with Mitochondrial Myopathy"	Gateway to Mitochondrial Medicine	Isaac T. Martin	Children's Hospital of Philadelphia	Philadelphia	PA	$5,000.00	NAMDC
2021	"Improving emergency care for mitochondrial patients"	Gateway to Mitochondrial Medicine	Jennifer Yang	University of California San Diego	San Diego	CA	$5,000.00	NAMDC
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	$5,000.00	NAMDC
2021	"Development of a single-chain mitochondrial base editor"	Gateway to Mitochondrial Medicine	Santiago Restrepo-Castillo	MAYO Clinic	Rochester	MN	$5,000.00	NAMDC
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	$5,000.00	NAMDC
2021	Combining gene replacement and focused ultrasound to treat Leigh Syndrome	LSIC Roadmap Project Grant	Michael Decressac, PhD	Universite Grenoble-Alpes	Grenoble		$30,000.00	Mito Foundation, Lily Foundation, PALS, MitoCon
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		$40,000.00	Mito Foundation, Lily Foundation, PALS, MitoCon
2021	Gene therapy in mouse models of Leigh Syndrome	LSIC Roadmap Project Grant	Massimo Zeviani, MD, PhD	University of Padova	Padova		$50,000.00	Mito 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 Grant	Roan Louw, PhD	North-West University	Potchefstroom		$8,000.00	Mito Foundation, Lily Foundation, PALS, MitoCon
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	$22,000.00	Mito Foundation, Lily Foundation, PALS, MitoCon
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	$100,000.00
2022	"Pre-clinical study on novel treatment strategies for RRM2B disease"	Postdoctoral Grant - accelerators	Sara Carli, PhD	Universita di Bologna	Bologna		$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		$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	$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	$5,000.00	NAMDC
2022	"Dysmorphology in Mitochondrial Disease"	Gateway to Mitochondrial Medicine	Mary Higgins	Children's Hospital of Philadelphia	Philadelphia	PA	$5,000.00	NAMDC
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	$7,500.00	NAMDC
2022	"Metabolism and Epigenetics of Uveal Melanoma"	Gateway to Mitochondrial Medicine	Piotr Kopinksi	MAYO Clinic	Rochester	MN	$5,000.00	NAMDC
2022	"Pathogenic variants in MRPS18C cause a complex mitochondrial neurocardiac disorder"	Gateway to Mitochondrial Medicine	Jessica Lee	University of Colorado	Denver	CO	$5,000.00	NAMDC
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	$5,000.00	NAMDC
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	$7,500.00	NAMDC
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	$5,000.00	NAMDC
2023	Leigh Syndrome - LSRP DCC Year 1	LSIC Roadmap Project Grant	Marni Falk, MD	Children's Hospital of Philadelphia	Philadelphia	PA	$40,089.00	Mito Foundation, Lily Foundation, PALS, MitoCon
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	$90,000.00	Mito Foundation, Lily Foundation, PALS, MitoCon
2023	Digital Video Assessment for PolG/PMM Patients	Infrastructure Grant	Siri Bolding, PhD	Emmes	Rockville	MD	$200,000.00	POLG Foundation
2023	Perlara Leigh Syndrome Roadmap Project	Family Impact Fund Grant - Nina Hall Impact Fund	Ethan Perlstein, PhD	Perlara	San Francisco	CA	$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	$5,000.00	NAMDC
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	$5,000.00	NAMDC
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	$5,000.00	NAMDC
2023	"Whole genome sequencing for the diagnosis of mitochondrial disease"	Gateway to Mitochondrial Medicine	Mallory Owen	University of California - San Diego	San Diego	CA	$5,000.00	NAMDC
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	$5,000.00	NAMDC
2023	"Development of in vitro models of the pathogenic m.3242G>A variant"	Gateway to Mitochondrial Medicine	Santiago Restrepo-Castillo	MAYO Clinic	Rochester	MN	$5,000.00	NAMDC
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	$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	$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	$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	$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	$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	$106,000.00
2012-2023	Mitochondrial Disease Sequence Data Resource Consortium	Infrastructure Grant		Children's Hospital of Philadelphia	Philadelphia	PA	$288,000.00
2012-2023	North American Mitochondrial Disease Consortium	Infrastructure Grant		Columbia University	New York	NY	$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	$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	$200,000.00
2024	"Project Butterfly"	Family Fund Impact Grant - Bertucci Family	Michio Hirano, MD, PhD	Columbia University	New York	NY	$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	$5,000.00	NAMDC
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	$5,000.00	NAMDC
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	$5,000.00	NAMDC
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	$5,000.00	NAMDC
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	$5,000.00	NAMDC
2024	"Assessing Neurodevelopmental Outcomes in Mitochondrial Disease"	Gateway to Mitochondrial Medicine	Fatima Alkhyeli, MD	UC San Diego	San Diego	CA	$5,000.00	NAMDC
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	$5,000.00	NAMDC
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	$5,000.00	NAMDC
2024	"Antisense Oligonucleotides for Splice Sorrection in Mitochondrial Disorders"	Investigator Grant	Holger Prokisch, PhD	Technical University of Munich	Munich		$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	$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		$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		$50,000.00
2025	"NanoMDS Nanomedicines nucleotides or RNA therapeutics delivery for treating mitochondrial DNA depletion syndromes	Investigator Grant	Caterina Garone, MD, PhD.	University of Bologna	Bologna		$100,000.00	Mito Foundation
2025	"Elucidating Mitochondrial Impairment in Troyer Syndrome - EMITS	Investigator Grant	Christian Bergamini, PhD	University of Bologna	Bologna		$100,000.00	Mito Foundation
2025	"Unraveling the Effects of SSBP1 Mutation on Vision"	Investigator Grant	Nan-Kai Wong, MD, PhD	Columbia University	Columbia	NY	$100,000.00	Mito Foundation
2025	"Anaplerotic odd-chain fatty acid therapy for the treatment of Leigh Syndrome"	Investigator Grant	Norma FrizzelL, PhD	University of South Carolina	Columbia	SC	$100,000.00	Mito Foundation
2025	Validating Digital Functional Assessments in Mitochondrial Diseases: A Multinational Smartphone and Wearable Validation Study	Clinical Trial Readiness Grant	Nikita Konstantinoskiy	Jellyfish Bio, Inc.	Dover	DE	$50,000.00	Mito Foundation
2025	Optimizing cryopreservation of muscle stem cell medicinal product for direct clinical administrationin Mitochondrial Myopathy patients	Clinical Trial Readiness Grant	Florence Van Tienen, PhD	Maastricht University	Maastricht		$32,531.76	Mito Foundation
2025	Monoclonal antibody therapy for Leigh Syndrome	Postdoctoral Grant	Anastasia Dimitriou, PhD	University of Northumbria at Newcastle	Newcastle upon Tyne		$50,000.00	Mito Foundation & Lily Foundation
2025	Therapeutic degrader molecules targeting excessive mitophagy in FBXL4- and PPTC7- associated Mitochondrial Disease	Postdoctoral Grant - Family Funded	Keri-Lyn Kozul, PhD	Washington University	St. Louis	MO	$50,000.00