The goal of the BSF Research Program is to foster the discovery and development of therapies to alleviate suffering and prolong life for individuals affected by Barth syndrome.
Since 2002, the Barth Syndrome Foundation has invested $6.6 million USD via >115 research grants to >68 principle investigators worldwide in order to better understand this rare X-linked genetic disease characterized by cardiomyopathy, growth delay, muscle hypoplasia, neutropenia and extreme fatigue.
In consultation with BSF's Scientific and Medical Advisory Board, and with the support of the international affiliates - Barth Syndrome Foundation of Canada, Barth Syndrome UK, Association Syndrome de Barth France, and Barth Italia Onlus) - our strategic seed-funding approach has resulted in BSF's original research investments translating into $37.7 million USD in follow-on funding for Barth syndrome research and catalyzed another $6.7 million USD for clinical trials research.
2021 Research Awards
2020 Research Awards
Development of mitochondria-targeted peptide compounds as Barth syndrome therapeutics
Nathan Alder, PhD, Associate Professor, University of Connecticut, Storrs, CT
Award - $50,000 over 1-year period
Awarded to Associate Professor Nathan Alder of University of Connecticut, this project will first ask how Szeto-Schiller compounds impact mitochondrial function – of which elamipretide is a member. These findings will then allow Dr. Alder and his team to focus on developing Szeto-Schiller compounds tailored to treat Barth syndrome. The potential impact of this project stems from Dr. Alder’s ideal expertise in cell-free model systems, alongside our increasing knowledge of the safety and efficacy (or positive impact) of elamipretide in our affected individuals. This project’s funding was made possible by the generous support of the Will McCurdy Fund for Advancement in Therapies for Barth Syndrome.
Investigation of a new nutraceutical for treatment of Barth Syndrome
Robin E. Duncan, PhD, Associate Professor, University of Waterloo, Waterloo, ON, Canada
Award - $41,580 over 2-year period
Awarded to Associate Professor Robin Duncan of University of Waterloo, this project will assess the therapeutic potential and activity of a nutraceutical (a possible supplement therapy that is available without prescription) in preserving the viability of Barth syndrome cells. Following up on early results that this nutraceutical has the ability to help Barth syndrome cells survive at the same levels as normal cells, Dr. Duncan and her team will try to understand what is the process that helps preserve these cells, and further expand her research into the Taz knockout (TAZKO) mouse model. As an early stage research effort (aka preclinical study), this research aims to provide the foundational understanding of this nutraceutical and its impact on Barth syndrome. This project’s funding was made possible by generous contributions from our affiliates Barth Syndrome Foundation of Canada and the Barth Syndrome UK.
Structural and Biophysical Studies of Tafazzin
Steven Glynn, Associate Professor, Stony Brook University, Stony Brook, NY
Award - $50,000 over 2-year period
Awarded to Associate Professor Steven Glynn of Stony Brook University, whom is a trained crystallographer (someone who purifies and generates protein crystals for structural studies). Dr. Glynn will apply his experience towards purifying normal and variant versions of Taz from yeast. If successful, he will determine what normal Taz looks like and how variant versions look and function differently. This important discovery science project will shed light on how some of the TAZ variants we know of and track impact Taz activity. As every biochemistry student learns early on – protein structure dictates function. This project’s funding was made possible by a generous contribution from our affiliate Association Syndrome de Barth France.
Cardiolipin Requirement for Mitochondrial Calcium Import
Vishal Gohil, PhD, Associate Professor, Texas A&M University, College Station, TX
Award - $50,000 over 1-year period
Awarded to Associate Professor Vishal Gohil of Texas A&M University, this discovery science project aims to understand how levels of calcium, mature cardiolipin (CL), and energy generation play a role in Barth syndrome. By using the highly modifiable yeast system, Dr. Gohil will probe what happens with reduced levels of mature CL (which is what happens in Barth syndrome) and its subsequent impact on the amount of calcium inside and outside of the mitochondria. Studying this relationship may further shed light on why Barth syndrome mitochondria produce lower levels of energy.
Essential activities of Tafazzin that are independent of cardiolipin remodeling
William T. Pu, MD, Professor, Boston Children's Hospital, Boston, MA
Award - $50,000 over 1-year period
Awarded to Professor William Pu of Boston Children’s Hospital and a member of the BSF SMAB, this project aims to understand the functions of mouse tafazzin (Taz) beyond generating mature cardiolipin (CL). By utilizing the Taz knockout (TAZKO) mouse model, Dr. Pu and his team found that replacing the Taz gene with different versions (variants of Taz), resulted in different levels of rescue for the TAZKO mice. Using these variant Taz versions as bait for proteins that interact with Taz, Dr. Pu and his research team hope to identify what are the other proteins that work with Taz independent of its CL-modifying function.
2018 Research Awards
Strategic Research Focus Area #1: Gene Therapy
Discovery of genetic modifiers of Barth syndrome
William Pu, MD, Professor, Boston Children’s Hospital, Boston, MA
Award—US $50,000 over 1-year period
*This grant is made possible in part by support from the Paula and Woody Varner Fund
Genetic and environmental modifiers are likely to offer insight into the wide spectrum of severity that exists in people with Barth syndrome.
Dr. William Pu of Boston Children’s Hospital will use the genetics of the knockout mouse model of Barth syndrome to identify genes that may modify the high death rate observed in this animal model.
Understanding the genetics and the impact of genetic modifiers is important because these genes represent therapeutic opportunities to improve care and treatment of individuals with Barth syndrome.
A new model to address the mechanism of neutropenia in patients with Barth syndrome
David Sykes, MD, PhD, Assistant Professor, Massachusetts General Hospital, Boston, MA
Award—US $50,000 over 1-year period
*This grant is made possible in part by support from Association Syndrome de Barth France
Neutropenia is a serious health risk for individuals with Barth syndrome, and how it is connected to the other aspects of the disease is not well understood. What is understood is that a mutation in the tafazzin gene, which causes Barth syndrome, also causes neutropenia in the large majority of our boys.
Dr. David Sykes of Massachusetts General Hospital will set up a system to allow precursor cells to develop into neutrophils and determine if there are developmental defects that lead to altered immune function. In parallel, Dr. Christopher Park of New York University School of Medicine will investigate whether the neutrophil deficits in Barth syndrome are due to cell-intrinsic defects that occur as neutrophils mature.
Understanding exactly how neutropenia develops and appreciating the causal relationship to the tafazzin gene should lead to new discoveries of tafazzin function that could be therapeutically exploited.
Characterization of hematopoietic stem and progenitor cells in Barth syndrome
Christopher Y. Park, MD, PhD, Associate Professor, New York University School of Medicine, New York, NY
Award—US $50,000 over 1-year period
*This grant is made possible in part by support from Association Syndrome de Barth France and Barth Syndrome Foundation of Canada
Strategic Research Focus Area #2: Modification of Cardiolipin
Deuterated polyunsaturated fatty acids as protective therapy in the treatment of Barth syndrome
Catherine F. Clarke, PhD, Professor and Chair, University of California at Los Angeles, Los Angeles, CA (UCLA)
Award—US $100,000 over 2-year period
*This grant is made possible by support from the Will McCurdy Fund for Advancement in Therapies for Barth Syndrome
Barth syndrome is uniquely associated with a deficiency and alterations in cardiolipin, a phospholipid that is an important component of the inner mitochondrial membrane. This deficiency and alterations in cardiolipin result in damage to the cell. Providing a “disease-resistant” cardiolipin to increase and replace the usual molecules may be therapeutic for individuals with Barth syndrome.
To test this hypothesis, Dr. Catherine Clarke of UCLA will apply this unique therapeutic idea by using chemically modified lipids to reduce the amount of cellular damage produced by deficient and altered cardiolipin.
If this novel specific lipid-replacement therapy preserves mitochondrial function, it could protect cells against the oxidative stress conditions known to exist in people with Barth syndrome.
Strategic Research Focus Area #3: Improving Mitochondrial Function
Resolution of the underlying basis for the impaired oxidation of fatty acids in Barth syndrome
Riekelt Houtkooper, PhD, Professor, Amsterdam Medical Center, Amsterdam, The Netherlands
Award—US $50,000 over 1-year period
*This grant is made possible in part by support from Association Syndrome de Barth France
Barth syndrome is a unique mitochondrial disease. Another type of mitochondrial disease that has common attributes with Barth syndrome is fatty acid oxidation (FAO) disorders. This is a group of diseases that affect approximately 1 in 10,000 births making it 30 times more numerous than Barth syndrome.
Dr. Riekelt Houtkooper of Amsterdam Medical Center will investigate how closely Barth syndrome resembles fatty acid oxidation disorders. Dr. Jan Dudek of University Medical Center Würzburg will collaborate with Dr. Houtkooper’s group to study the relationship of fatty acid oxidation and heart failure as it relates to Barth syndrome.
These projects aim to explain why underlying defective mechanisms in Barth syndrome impair the body’s ability to use fatty acids properly. Similarly, researchers aim to resolve the cause for the diminished oxidation of fatty acids in Barth syndrome with the ultimate goal of informing novel therapeutic strategies.
Impaired fatty acid utilization and alternate substrates in Barth syndrome
Jan Dudek, PhD, Independent Junior Group Leader, University Medical Center Wurzburg, Wurzburg, Germany
Award—US $50,000 over 1-year period
*This grant is made possible by support from the Will McCurdy Fund for Advancement in Therapies for Barth Syndrome
Supplementation of critical metabolites improves TCA cycle function and viability of tafazzin-deficient cells
Miriam Greenberg, PhD, Professor, Wayne State University, Detroit, MI
Award—US $50,000 over 1-year period
*This grant is made possible by support from the Will McCurdy Fund for Advancement in Therapies for Barth Syndrome
Metabolic disease is any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular level. At a fundamental level Barth syndrome is a metabolic disease. For some metabolic diseases, altered nutrition, use of supplements and/or adhering to a specialized diet may be therapeutic.
Dr. Miriam Greenberg of Wayne State University will determine why diet supplements may be beneficial to boys living with Barth syndrome by measuring the metabolism of cellular models of Barth syndrome exposed to different amino acids and similar nutrients. The proposed study aims to identify specific metabolic compounds that improve the function of cells that are deficient in cardiolipin.
The outcome of this study could provide important guidelines for dietary intervention that may potentially improve the quality of life for Barth syndrome patients.
2017 Grant Cycle
Neutrophil dysfunction in Barth syndrome
Borko Amulic, PhD, Lecturer (Assistant Professor), University of Bristol, Bristol, UK
Award: US $49,967 over 2-year period
*Partial funding for this award was provided by Barth Syndrome Trust
Mutual connections of mitochondrial membrane architecture and cardiolipin homeostasis in Barth syndrome
Martin van der Laan, PhD, Professor, Saarland University, Homburg, Germany
Award: US $48,906 over 1.5-year period
*Funding for this award was provided by Association Syndrome de Barth France
Cardiolipin activates pyruvate dehydrogenase (PDH) — a potential new target for treatment of Barth syndrome
Miriam Greenberg, PhD, Professor, Wayne State University, Detroit, MI
Award: US $50,000 over 1-year period
The cause and consequences of plasmalogen depletion in Barth syndrome
Richard Epand, PhD, Professor, McMaster University, Hamilton, Ontario, Canada
Award: US $50,000 over 1-year period
*Partial funding for this award was provided by Barth Syndrome Foundation of Canada
Prenatal cardiac phenotype as a platform for testing Barth syndrome therapies
Colin Phoon, MPhil, MD, Associate Professor, New York University School of Medicine, New York, NY
Award: US $70,000 over 2-year period
*Partial funding for this award was provided by the Paula and Woody Varner Fund
2016 Grant Cycle
Optimization of AAV-mediated gene therapy for Barth syndrome
Christina Pacak, PhD, Assistant Professor, University of Florida, Gainesville, Florida
Award: US $100,000 over 2-year period
*Funding for this award was provided by the Will McCurdy Fund for Advancement in Therapies for Barth Syndrome and the Barth Syndrome Foundation of Canada
Discovery of drug candidates for the Barth syndrome using a yeast-based screening approach and higher eurkaryotic models of this disease
Deborah Tribouillard-Tanvier, PhD, Permanent Researcher, CNRS, University of Bordeaux, Bordeaux, France
Award: US $44,000 over 2-year period
*Funding for this award was provided by Association Barth France
Characterization of the ‘metabolic phenotype’ in Barth syndrome with cardiac transplantation
W. Todd Cade, PT, PhD, Professor, Washington University, St. Louis, MO
Award: US $49,820 over 1-year period with $21,000 in travel expenses
*Funding for this award was provided by the Will McCurdy Fund for Advancement in Therapies for Barth Syndrome
Cardiolipin enhancing biodegradable nanoparticle for Barth syndrome
Shanta Dhar, PhD, Associate Professor, University of Miami Miller School Medicine, Miami, FL
Award: US $50,000 over 2-year period
2015 Grant Cycle
Structural studies of human tafazzin
Eric Ortlund, PhD, Associate Professor, Emory University, Atlanta, GA
Award—US $50,000 over 1-year period
Metabolic adaption in Barth syndrome
George Schweitzer, PhD, Postdoctoral Research Associate, Washington University School of Medicine, St. Louis, MO
Award—US $50,000 over 1-year period
*Funding for this award was provided by the Will McCurdy Fund for Advancement in Therapies for Barth Syndrome
Molecular mechanisms underlying a causative role ALCAT1 in the pathogenesis of Barth syndrome
Yuguang (Roger) Shi, PhD, Professor, University of Texas Health Sciences Center in San Antonio, San Antonio, TX
Award—US $100,000 over 3-year period
Cardiolipin is required for mitochondrial protein processing
Miriam Greenberg, PhD, Professor, Wayne State University, Detroit, MI
Award—US $50,000 over 1-year period
A new enzyme and pathway in cardiolipin synthesis
Robin Duncan, Assistant Professor, University of Waterloo, Waterloo, Ontario, Canada
Award—US $50,000 over 2-year period
*Partial funding for this award was provided by Barth Syndrome Foundation of Canada
Use of high throughput screens in yeast to investigate the pathomechanism of Barth syndrome
Doron Rapaport, PhD, Professor, University of Tuebingen, Tuebingen, Bavaria, Germany
Award—US $50,000 over 1-year period
*Partial funding for this award was provided by Association Barth France
2014 Grant Cycle
Mechanism and role of cardiolipin oxidation and hydrolysis in Barth syndrome
Valerian Kagan, PhD, Professor and Vice-Chairman, University of Pittsburgh, Pittsburgh, PA
Award—US $100,000 over 3-year period
*Partial funding for this award was provided by the Barth Syndrome Foundation of Canada
Effects of resistance exercise training on cardiac, metabolic, and muscle function and quality of life in Barth syndrome: Part II
W. Todd Cade, PT, PhD, Associate Professor, Washington University School of Medicine, St. Louis, MO
Award—US $45,313 plus $13,500 for travel expenses over 1-year period
*Funding for this award was provided by the Will McCurdy Fund for the Advancement of Therapies for Barth Syndrome
Correction of mitochondrial dysfunction in Barth syndrome
Christina Pacak, PhD, Assistant Professor, University of Florida, Gainesville, FL
Award—US $100,000 over 3-year period
*Partial funding for this award was provided by the Will McCurdy Fund for the Advancement of Therapies for Barth Syndrome and Association Barth France
How do women adapt to being a Barth syndrome carrier? A mixed methodological study of psychological adjustment and reproductive options
Cynthia James, PhD, Research Associate, Johns Hopkins University, Baltimore, MD
Award—US $48,563 over 2-year period
Assessment of quality of life, anxiety, and depression in Barth syndrome: Expanding the scope of comprehensive care
John L. Jefferies, MD, MPH, FAAP, FACC, FAHA, Director, Advanced Heart Failure and Cardiomyopathy Services; Associate Professor, Pediatric Cardiology and Adult Cardiovascular Diseases, The Heart Institute; Associate Professor, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Award—US $28,749 over 2-year period
*Partial funding for this award was provided by Barth Syndrome Trust
Translating murine Taz deficiency to human Barth syndrome: Focus on impaired lipid oxidation
Adam Chicco, PhD, Associate Professor, Colorado State University, Fort Collins, CO
Award—US $49,998 over 1-year period
*Partial funding for this award was provided by Barth Syndrome Trust
Novel antioxidant therapies in a mouse model of Barth syndrome
Colin Phoon, MD, MPhil, Associate Professor, New York University School of Medicine, New York, NY
Award—US $50,000 over 2-year period
*Funding for this award was provided by the Paula & Woody Varner Fund
Enzyme replacement therapy in heart failure associated with tafazzin deficiency
Michael T. Chin, MD, PhD, Associate Professor, University of Washington, Seattle, WA
Award—US $50,000 over 1-year period
*Funding for this award was provided by the Will McCurdy Fund for the Advancement of Therapies for Barth Syndrome
Reversal of cardiolipin deficiency in Barth syndrome mouse model
Trudy M. Forte, PhD, Director of Research, Lypro Biosciences, Inc., Berkeley, CA
Award—US $49,997 over 1-year period
*Funding for this award was provided by the Will McCurdy Fund for the Advancement of Therapies for Barth Syndrome
Correcting mitochondrial ROS production to decrease Barth syndrome symptoms
Renata Goncalves, PhD, Postdoctoral Research Associate, Harvard T. H. Chan School of Public Health, Boston, MA
Award—US $50,000 over 1-year period
2013 Grant Cycle
Reactive oxygen species and mitochondrial dynamics in the pathogenesis of Barth syndrome
William T. Pu, MD, Associate Professor, Boston Children´s Hospital, Boston, MA
Award — US $100,000 over 2-year period
Identification of human cardiolipin phospholipases that are deleterious to tafazzin-deficient cells
Miriam Greenberg, PhD, Professor, Wayne State University, Detroit, MI
Award — US $50,000 over 1-year period
Characterization of a conditional knockout of tafazzin in the mouse
Douglas Strathdee, PhD, Head of Transgenic Technology, Beatson Institute for Cancer Research, Glasgow, Scotland
Award — US $49,837 over 2-year period
*Funding for this award was provided by Barth Syndrome Trust (UK and Europe)
A systematic investigation into sensory and motor based feeding issues in boys with Barth syndrome
Stacey Reynolds, PhD, OTR/L, Associate Professor, Virginia Commonwealth University, Richmond, VA
Award — US $18,732 over 1-year period
*Funding for this award was provided by Association Barth France
Tafazzin knockdown alters hepatic lipid metabolism
Grant Hatch, PhD, Professor, University of Manitoba, Winnipeg, Manitoba, Canada
Award — US $49,995 over 1-year period
*Partial funding for this award was provided by Barth Syndrome Foundation of Canada
Investigation of cardiolipin-dependent respiratory complex activity and development of small molecule lipid analogs
Nathan N. Alder, PhD, Assistant Professor, University of Connecticut, Storrs, CT
Award — US $50,000 over 1-year period
Tafazzin enzyme replacement therapy in a mouse model of Barth syndrome
Michael T. Chin, MD, PhD, Associate Professor, University of Washington, Seattle, WA
Award—US $50,000 over 1-year period
2012 Grant Cycle
Maturation of Barth syndrome models for clinical translation
William T. Pu, MD, Associate Professor, Boston Children´s Hospital, Boston, MA
Award — US $40,000 over 1-year period
*Funding for this award was provided by Barth Syndrome Trust (UK and Europe)
Role of mitochondria during myocardial morphogenesis in Barth syndrome
Colin Phoon, MPhil, MD, Associate Professor, New York University Medical Center, New York, NY
Award — US $40,000 over 1-year period
*Funding for this award was provided by BSF's Paula and Woody Varner Fund
Regulation of cardiomyopathy by ALCAT1 in Barth syndrome
Yuguang (Roger) Shi, PhD, Professor, Pennsylvania State University School of Medicine, Hershey, PA
Award — US $40,000 over 1-year period
Mechanisms of substrate-specific impairment of oxidative phosphorylation in taz-deficient cardiac mitochondria
Adam Chicco, PhD, Assistant Professor, Colorado State University, Fort Collins, CO
Award — US $40,000 over 1-year period
Determination of the monolysocardiolipin/cardiolipin (MLCL/CL) ratio in intact nucleated cells: A new tool for the screening of Barth syndrome
Angela Corcelli, PhD, Associate Professor, University of Bari Aldo Moro, Bari, Italy
Award — US $36,300 over 1-year period
*Funding for this award was provided by the Association Barth France
Relationship between membrane physical properties and the action of tafazzin
Richard Epand, PhD, Professor, McMaster University, Hamilton, Ontario, Canada
Award — US $37,950 over 2-year period
*Partial funding for this award was provided by the Barth Syndrome Foundation of Canada
Implications of phosphatidylserine deficiency in skeletal muscle and heart of ROSA26-taz shRNATet-on mouse model of Barth syndrome
Matthew P. Gillum, PhD, Research Assistant Professor, University of Iowa, Iowa City, IA
Award — US $40,000 over 1-year period
Cardiolipin replacement therapy for Barth syndrome
Robert Ryan, PhD, Senior Scientist, Children´s Hospital and Research Center at Oakland, Oakland, CA
Award — US $40,000 over 1-year period
Tafazzin enzyme replacement therapy for heart muscle in Barth syndrome
Michael T. Chin, MD, PhD, Associate Professor, University of Washington, Seattle, WA
Award — US $40,000 over 1-year period
2011 Grant Cycle
Characterizing endogenous mammalian TAZ1
Steven M. Claypool, PhD, Assistant Professor, The Johns Hopkins University, Baltimore, MD
Award — US $40,000 over 1-year period
Using induced pluripotent stem cells and modified RNAs to model and correct Barth syndrome
William T. Pu, MD, Associate Professor, Children´s Hospital of Boston, Boston, MA
Award — US $40,000 over 1-year period
Drug repositioning for Barth syndrome
Mindong Ren, PhD, Assistant Professor, New York University School of Medicine, New York, NY
Award — US $40,000 over 1-year period
Cardiolipin deficiency leads to defects in the TCA cycle
Miriam Greenberg, PhD, Professor, Wayne State University, Detroit, MI
Award — US $40,000 over 1-year period
*Funding for this award was provided by Association Barth France
Effects of resistance training on cardiac, metabolic, and muscle function and quality of life in Barth syndrome
W. Todd Cade, PT, PhD, Assistant Professor, Washington University School of Medicine, St. Louis, MO
Award — US $39,937 over 1-year period
MLCL AT-1 elevates cardiolipin and mitochondrial function in cardiac myocytes of taz knockdown mice
Grant Hatch, PhD, Professor, University of Manitoba, Winnipeg, Manitoba, Canada
Award — US $40,000 over 1-year period
*Funding for this award was provided by the Barth Syndrome Foundation of Canada
Characterization of biochemical abnormalities in Barth syndrome patients and mouse model of Barth syndrome
Yana Sandlers, PhD, Assistant Director of Biochemical Genetics, Kennedy Krieger Institute, Baltimore, MD
Award — US $21,065 over 1-year period
Functional characterization of a mitochondrial lipid phosphatase that involves cardiolipin biosynthesis
Ji Zhang, MD, PhD, Assistant Project Scientist, University of California at San Diego, San Diego, CA
Award — US $40,000 over 2-year period
Causative and correlative role of cardiolipin on integrated mitochondrial function in Barth syndrome
Junhwan Kim, PhD, Research Associate, Case Western Research University, Cleveland, OH
Award — US $40,000 over 1-year period
2010 Grant Cycle
Gene therapy in mouse model of Barth syndrome
Barry J. Byrne, MD, PhD, Associate Chair Pediatrics, Director Powell Gene Therapy Center; Professor of Cardiology, University of Florida, Gainesville, FL
Award — US $39,820 over 1-year period
Cardiomyopathy in a mouse model of Barth syndrome
Colin K. Phoon, MPhil, MD, Associate Professor, New York University School of Medicine, New York, NY
Award — US $40,000 over 2-year period
Targeting cardiolipin deficiency in the taz shRNA mouse model of Barth syndrome
Adam J. Chicco, PhD, Assistant Professor, Colorado State University, Fort Collins, CO
Award — US $40,000 over 2-year period
The preferred acyl chain donor of Taz1p in the acylation of monolysocardiolipin
Anton I. de Kroon, PhD, Docent (Associate Professor), Utrecht University, Utrecht, The Netherlands
Award — US $40,000 over 2-year period
*Funding for this award was provided by Barth Syndrome Trust (UK & Europe)
Caspase-8 in control of mitochondrial metabolism
Bram Van Raam, PhD, Postdoctoral Associate, Sanford-Burnham Medical Research Institute, La Jolla, CA
Award — US $40,000 over 2-year period
Loss of cardiolipin leads to defective mitochondrial iron/sulfur biosynthesis and iron homeostasis
Miriam Greenberg, PhD, Professor, Wayne State University, Detroit, MI
Award — US $40,000 over 1-year period
A screen for drug leads for the treatment of Barth syndrome
Christopher McMaster, PhD, Professor, Dalhousie University, Halifax, Nova Scotia, Canada
Award — US $38,350 over 1-year period
*Funding for this award was provided by Barth Syndrome Foundation of Canada
2009 Grant Cycle
The shRNA-mediated tafazzin knockdown mouse model for Barth syndrome
Zaza Khuchua, PhD, Research Associate Professor, Children´s Hospital Medical Center, Cincinnati, OH
Award — US $39,998 over 2-year period
Does cardiolipin synthase upregulation alleviate cardiolipin abnormalities and bioenergetic dysfunction in Barth syndrome?
Michael A. Kiebish, PhD, Postdoctoral Research Associate, Washington University School of Medicine, St. Louis, MO
Award — US $40,000 over 2-year period
Perturbation of mitophagy in cardiolipin mutants
Miriam Greenberg, PhD, Professor and Associate Dean, Wayne State University, Detroit, MI
Award — US $40,000 over 1-year period
Expression levels, localization, and function of tafazzin isoforms
Yang Xu, PhD, MD, Instructor, New York University School of Medicine, New York, NY
Award — US $38,370 over 2-year period
Safety and efficacy of aerobic exercise training in Barth syndrome: A pilot study
W. Todd Cade, PT, PhD, Assistant Professor, Washington University School of Medicine, St. Louis, MO
Award — US $39,600 over 2-year period
Role of human monolysocardiolipin acyltransferase in Barth syndrome
Grant Hatch, PhD, Professor, University of Manitoba, Winnipeg, Manitoba, Canada
Award — US $40,000 over 1-year period
*Funding for this award was provided by Barth Syndrome Foundation of Canada
Analysis of metabolic abnormalities in TAZ-deficient cardiomyocytes
William Pu, MD, Associate Professor, Children´s Hospital of Boston, Boston, MA
Award — US $40,000 over 1-year period
2008 Grant Cycle
Characterization of nutrient metabolism in Barth syndrome
W. Todd Cade, PT, PhD, Assistant Professor, Washington University School of Medicine, St. Louis, MO
Award — US $39,998 over 1-year period
The role of tafazzin in mitochondrial protein import — Implications for Barth syndrome
Miriam L. Greenberg, PhD, Professor and Associate Dean, Wayne State University, Detroit, MI
Award — US $40,000 over 1-year period
*Funding for this award was provided by Barth Syndrome Foundation and Barth Syndrome Foundation of Canada
Fatty acid combinational therapy for Barth syndrome investigated using a rat model of heart failure
Genevieve Sparagna, PhD, University of Colorado at Boulder, Boulder, CO
Award — US $40,000 over 2-year period
The role of cardiolipin and phosphatidylethanolamine in the maintenance of mitochondrial membrane architecture
Ashim Malhotra, PhD, Postdoctoral Fellow, New York University School of Medicine, New York, NY
Award — US $23,980 over 1-year period
2007 Grant Cycle
Perturbation of the osmotic stress response in cardiolipin deficient mutants
Miriam Greenberg, PhD, Professor and Associate Dean, Wayne State University, Detroit, MI
Award — US $40,000 over 1-year period
Creation of a rat model of Barth syndrome
Carol P. Moreno-Quinn, MD, PhD, Assistant Professor, Medical College of Wisconsin, Milwaukee, WI
Award — US $40,000 over 1-year period
Are reactive oxygen species involved in the development of dilated cardiomyopathy in Barth syndrome?
Quan He, PhD, Research Scientist, Henry Ford Hospital, Detroit, MI
Award — US $39,996 over 2-year period
Prevalence of Barth syndrome in adult cardiomyopathies
Matthew R. G. Taylor, MD, PhD, Associate Professor and Director of Adult Clinical Genetics, University of Colorado at Denver and Health Sciences Center, Aurora, CO
Award — US $33,701 over 1-year period
Neutropenia in Barth syndrome
David Dale, MD, Professor of Medicine, University of Washington, Seattle, WA
Award — US $40,000 over 1-year period
Neutropenia in Barth syndrome: New in vitro models to study BTHS neutrophils
Taco Kuijpers, MD, PhD, Professor, University of Amsterdam, Amsterdam, The Netherlands
Award — US $40,000 over 1-year period
*Funding for this award was provided by Barth Syndrome Trust (UK & Europe)
Consequences of the alteration of cardiolipin structure on the properties of the mitochondrial membranes
Richard Epand, PhD, Professor, McMaster University, Hamilton, ON, Canada
Award — US $38,900 over 1-year period
*Funding for this award was provided by Barth Syndrome Foundation of Canada
Barth syndrome testing: Are we missing some patients?
Susan Kirwin, Senior Research Associate, Assistant Director, Nemours Children´s Clinic, Alfred I. duPont Hospital for Children, Wilmington, DE
Award — US $24,145 over 1-year period
Synthetic genetics towards understanding Barth syndrome cell biology
Christopher R. McMaster, PhD, Professor, Dalhousie University, Halifax, Nova Scotia, Canada
Award — US $36,712 over 1-year period
*Funding for this award was provided by Barth Syndrome Foundation and Barth Syndrome Foundation of Canada
2006 Grant Cycle
Pathogenetic mechanism and genetic suppressors of Barth syndrome
Mindong Ren, PhD, Assistant Professor, New York University, New York, NY
Award — US $40,000 over 1-year period
The role of phosphatidylglycerol in activating Protein Kinase C mediated signaling
Miriam Greenberg, PhD, Professor and Associate Dean, Wayne State University, Detroit, MI
Award — US $40,000 over 1-year period
Regulation of cardiolipin remodeling in the heart studied using a rat model of heart failure
Genevieve Sparagna, PhD, Faculty Research Associate, University of Colorado, Boulder, CO
Award — US $40,000 over 2-year period
Early indices of learning difficulties in young boys with Barth syndrome
Michele M. M. Mazzocco, PhD, Associate Professor, Johns Hopkins School of Medicine, Baltimore, MD
Award — US $40,000 over 1.5-year period
Cardiac and skeletal muscle in Barth syndrome: Evaluation of functional capacity and energy metabolism
Carolyn Spencer, MD, Assistant Professor, University of Florida, Gainesville, FL
Award — US $39,600 over 2-year period
Development of BTHS screening using bloodspots and HPLC tandem mass spectrometry
Willem Kulik, PhD, Head Mass Spectrometry/Metabolomics, University of Amsterdam, Amsterdam, The Netherlands
Award — US $30,000 over 1-year period
*Funding for this award was provided by Barth Syndrome Trust (UK & Europe)
Identification of the proteins interacting with tafazzin and resolution of the consequences of the deficiency of cardiolipin at the protein level
Frédéric M. Vaz, PhD, Departments of Pediatrics & Clinical Chemistry, University of Amsterdam, Amsterdam, The Netherlands
Award — US $40,000 over 1-year period
*Funding for this award was provided by Barth Syndrome Foundation and Barth Syndrome Trust (UK & Europe)
Organization of cardiolipin in Barth syndrome
Toshihide Kobayashi, PhD, Chief Scientist, Director of Lipid Biology Laboratory, RIKEN, Wako, Saitama, Japan
Award — US $39,600 over two-year period
2005 Grant Cycle
Does copper deficiency play a role in Barth syndrome?
Miriam L. Greenberg, PhD, Professor, Biological Sciences, Associate Dean for Research, Wayne State University, Detroit, MI
Award — US $40,000 over 1-year period
A role for cardiolipin in Barth syndrome
Thomas H. Haines, PhD, Professor, Chemistry and Biochemistry, City College of the City University of New York, New York, NY
Award — US $40,000 over 1-year period
Cholesterol metabolism in Barth syndrome
Grant M. Hatch, PhD, Professor, Pharmacology and Therapeutics; Acting Associate Dean of Medicine for Research, University of Manitoba, Winnipeg, Manitoba, Canada
Award — US $40,000 over 2-year period
*Funding for this award was provided by Barth Syndrome Foundation and Barth Syndrome Foundation of Canada
Characterization of endosome specific lipid lysobisphosphatidic acid in lymphoblasts from patients with Barth syndrome
Toshihide Kobayashi, PhD, Chief Scientist, Director of Lipid Biology Laboratory, RIKEN, Wako, Saitama, Japan
Award — US $23,100 over 1-year period
Psychosocial aspects of Barth syndrome: Quality of life, family functioning, and relationship to biologic variables
Eric A. Storch, PhD, Assistant Professor, Psychiatry and Pediatrics, University of Florida, Gainesville, FL
Award — US $20,701 over 1.5-year period
2004 Gant Cycle
Retro- and prospective measurement of the incidence of Barth syndrome in cardiomyopathic patients and development of a tool for Barth syndrome newborn screening using HPLC tandem mass spectrometry
Willem Kulik, PhD, Head, Mass Spectrometry/Metabolomics, University of Amsterdam/AMC, Amsterdam, The Netherlands
Award — US $37,000 over 1-year period
A drosophila model of Barth syndrome
Mindong Ren, PhD, Assistant Professor of Cell Biology, New York University School of Medicine, New York, NY
Award — US $40,000 over 2-year period (revised)
Cardiac functional and electrophysiological abnormalities in Barth syndrome
Carolyn T. Spencer, MD, Assistant Professor, Pediatric Cardiology, University of Florida, Gainesville, FL
Award — US $40,000 over 2-year period
Tafazzin function in animal models of Barth syndrome
Arnold W. Strauss, MD, Professor and Chair, Pediatrics, Vanderbilt University Medical Center, Nashville, TN
Award — US $40,000 over 1-year period
2003 Grant Cycle
Neutropenia in Barth syndrome
David C. Dale, MD, Professor of Medicine, University of Washington, Seattle, WA
Award — US $40,000 over 2-year period
Bid and cardiolipin metabolism: Impact on neutropenia and lymphoma predisposition
Mauro Degli Esposti, PhD, Lecturer in Molecular Toxicology, The University of Manchester, Manchester, UK
Award — US $30,000 over 1-year period
Neutrophil function in Barth syndrome in relation to annexin-V binding and cell death
Taco W. Kuijpers, MD, PhD, Professor in Pediatric Hematology, Immunology & Infectious Disease, Emma Children´s Hospital/Academic Medical Center, Amsterdam, The Netherlands
Award — US $40,000 over 2-year period
Genetic analysis of Barth syndrome
Cathryn S. Mah, PhD, Research Assistant Professor, Pediatrics, University of Florida, Gainesville, FL
Award — US $40,000 over 2-year period
Is tafazzin a phospholipid transacylase?
Yang Xu, MD, PhD, Research Assistant Scientist, Department of Anesthesiology, New York University School of Medicine, New York, NY
Award — US $23,760 over 2-year period
2002 Grant Cycle
A study of TAZ mRNAs in Barth syndrome individuals
Iris L. Gonzalez, PhD, Senior Research Scientist, A.I. DuPont Hospital for Children, Wilmington, DE
Award — US $13,310 over 1.5-year period
TAZ1 gene function in yeast: A molecular model for Barth syndrome
Miriam L. Greenberg, PhD, Professor, Biological Sciences, Wayne State University, Detroit, MI
Award — US $39,630 over 2-year period
The molecular mechanism of Barth syndrome
Grant M. Hatch, PhD, Professor, Pharmacology & Therapeutics, University of Manitoba, Winnipeg, Manitoba, Canada
Award — US $18,287 over 1-year period
A mouse gene ablation model of Barth syndrome
Arnold W. Strauss, MD, Professor and Chairman, Pediatrics, Vanderbilt University Medical Center, Nashville, TN
Award — US $40,000 over 1-year period
Resolution of the function of the TAZ-gene and characterization of its gene products
Frédéric M. Vaz, PhD, Laboratory of Genetic Metabolic Disorders, Academic Medical Center, Amsterdam, The Netherlands
Award — US $37,715 over 1-year period
Last updated 3/15/2019
