“Saving lives through education,
   advances in treatment, and
finding a cure for Barth syndrome”

Grants Awarded

Since the 2002 season the Barth Syndrome Foundation, in consultation with its Scientific and Medical Advisory Board and with the support of the international affiliate chapters (Barth Syndrome Foundation of Canada, Barth Syndrome Trust {UK and Europe}, Association Barth France, and Association Barth Italy), has awarded a total of US $4.2 million to 58 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. This competitive grant program has resulted in many publications which are unraveling the details of this multi-faceted disease and are leading towards new ideas for treatment. Many of the past and present grant awardees attended the 8th International Barth Syndrome Scientific, Medical & Family Conference on July 18-23, 2016 in Clearwater, Florida.

To date, there are a total of 142 distinct publications acknowledging financial support and/or biological samples (and/or information) from Barth families, the Barth Syndrome Registry and Repository (BRR), and BSF and/or its affiliates.

Below are links to slides and audio presentations of the doctors and scientists involved in the many aspects of Barth syndrome. These presentations, given at BSF's 2016, 2014, 2012 and 2010 international conferences, reveal the latest underlying scientific developments and clinical insights. We hope that these important communications will encourage collaboration and accelerate advances in the understanding and treatment of Barth syndrome.

2016 Grant Cycle

 
 


Christina Pacak, PhD,
Assistant Professor, University of Florida, Gainesville, FL

Optimization of AAV-mediated gene therapy for Barth syndrome

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 Barth Syndrome Foundation of Canada

 Research currently underway

 

   


Deborah Tribouillard-Tanvier, PhD,
Permanent Researcher, CNRS, University of Bordeaux, Bordeaux, France

Discovery of drug candidates for the Barth syndrome using a yeast-based screening approach and higher eurkaryotic models of this disease

Award: US $44,000 over 2-year period

*Funding for this award was provided by Association Barth France

  Research currently underway

   


W. Todd Cade, PT, PhD,
Professor, Washington University, St. Louis, MO

Characterization of the ‘metabolic phenotype’ in Barth syndrome with cardiac transplantation

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

Research currently underway


   


Shanta Dhar, PhD,
Associate Professor, University of Miami Miller School Medicine, Miami, FL

Cardiolipin enhancing biodegradable nanoparticle for Barth syndrome

Award: US $50,000 over 2-year period

Research currently underway

 

2015 Grant Cycle

   

Eric Ortlund, PhD, Associate Professor, Emory University, Atlanta, GA                                                          

Structural studies of human tafazzin

Award—US $50,000 over 1-year period

 Research currently underway

 

   

George Schweitzer, PhD, Postdoctoral Research Associate, Washington University School of Medicine, St. Louis, MO

Metabolic adaption in Barth syndrome

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

 Research currently underway

   

Yuguang (Roger) Shi, PhD, Professor, University of Texas Health Sciences Center in San Antonio, San Antonio, TX

Molecular mechanisms underlying a causative role ALCAT1 in the pathogenesis of Barth syndrome

Award—US $100,000 over 3-year period

Research currently underway

 

   

Miriam Greenberg, PhD, Professor, Wayne State University, Detroit, MI

Cardiolipin is required for mitochondrial protein processing

Award—US $50,000 over 1-year period

Research currently underway


 

   


Robin Duncan,
Assistant Professor, University of Waterloo, Waterloo, Ontario, Canada

A new enzyme and pathway in cardiolipin synthesis

Award—US $50,000 over 2-year period

*Partial funding for this award was provided by Barth Syndrome Foundation of Canada

Research currently underway

   


Doron Rapaport, PhD,
Professor, University of Tuebingen, Tuebingen, Bavaria, Germany

Use of high throughput screens in yeast to investigate the pathomechanism of Barth syndrome

Award—US $50,000 over 1-year period

*Partial funding for this award was provided by Association Barth France

Research currently underway


2014 Grant Cycle

 

Valerian Kagan, PhD, Professor and Vice-Chairman, University of Pittsburgh, Pittsburgh, PA                                   

Mechanism and role of cardiolipin oxidation and hydrolysis in Barth syndrome

Award—US $100,000 over 3-year period

*Partial funding for this award was provided by the Barth Syndrome Foundation of Canada

Research currently underway

 


W. Todd Cade, PT, PhD,
Associate Professor, Washington University School of Medicine, St. Louis, MO

Effects of resistance exercise training on cardiac, metabolic, and muscle function and quality of life in Barth syndrome: Part II

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

 


Christina Pacak, PhD, Assistant Professor, University of Florida, Gainesville, FL

Correction of mitochondrial dysfunction in Barth syndrome

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

*Partial funding for this award was provided by Association Barth France

Research currently underway

 

Cynthia James, PhD, Research Associate, Johns Hopkins University, Baltimore, MD

How do women adapt to being a Barth syndrome carrier? A mixed methodological study of psychological adjustment and reproductive options

Award—US $48,563 over 2-year period

Research currently underway 

 

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

Assessment of quality of life, anxiety, and depression in Barth syndrome: Expanding the scope of comprehensive care

Award—US $28,749 over 2-year period

*Partial funding for this award was provided by Barth Syndrome Trust

Research currently underway

 


Adam Chicco, PhD,
Associate Professor, Colorado State University, Fort Collins, CO

Translating murine Taz deficiency to human Barth syndrome: Focus on impaired lipid oxidation

Award—US $49,998 over 1-year period

*Partial funding for this award was provided by Barth Syndrome Trust

 


Colin Phoon, MD, MPhil,
Associate Professor, New York University School of Medicine, New York, NY

Novel antioxidant therapies in a mouse model of Barth syndrome

Award—US $50,000 over 2-year period

*Funding for this award was provided by the Paula & Woody Varner Fund

Research currently underway

 


Michael T. Chin, MD, PhD,
Associate Professor, University of Washington, Seattle, WA

Enzyme replacement therapy in heart failure associated with tafazzin deficiency

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


 

Trudy M. Forte, PhD, Director of Research, Lypro Biosciences, Inc., Berkeley, CA

Reversal of cardiolipin deficiency in Barth syndrome mouse model

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

 


Renata Goncalves, PhD
, Postdoctoral Research Associate, Harvard T. H. Chan School of Public Health, Boston, MA

Correcting mitochondrial ROS production to decrease Barth syndrome symptoms

Award—US $50,000 over 1-year period 


 

2013 Grant Cycle

William

William T. Pu, MD, Associate Professor, Boston Children´s Hospital, Boston, MA

Reactive oxygen species and mitochondrial dynamics in the pathogenesis of Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $100,000 over 2-year period


 

Miriam Greenberg, PhD, Professor, Wayne State University, Detroit, MI

Identification of human cardiolipin phospholipases that are deleterious to tafazzin-deficient cells
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $50,000 over 1-year period



Douglas Strathdee, PhD, Head of Transgenic Technology, Beatson Institute for Cancer Research, Glasgow, Scotland

Characterization of a conditional knockout of tafazzin in the mouse
(Read more...Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $49,837 over 2-year period

*Funding for this award was provided by Barth Syndrome Trust (UK and Europe)


Stacey Reynolds, PhD, OTR/L, Associate Professor, Virginia Commonwealth University, Richmond, VI

A systematic investigation into sensory and motor based feeding issues in boys with Barth syndrome

(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $18,732 over 1-year period

*Funding for this award was provided by Association Barth France



Grant Hatch, PhD, Professor, University of Manitoba, Winnipeg, Manitoba, Canada

Tafazzin knockdown alters hepatic lipid metabolism
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $49,995 over 1-year period

*Partial funding for this award was provided by Barth Syndrome Foundation of Canada



Nathan N. Alder, PhD, Assistant Professor, University of Connecticut, Storrs, CT

Investigation of cardiolipin-dependent respiratory complex activity and development of small molecule lipid analogs
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $50,000 over 1-year period


 

Michael T. Chin, MD, PhD, Associate Professor, University of Washington, Seattle, WA

Tafazzin enzyme replacement therapy in a mouse model of Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award—US $50,000 over 1-year period


2012 Grant Cycle

William

William T. Pu, MD, Associate Professor, Boston Children´s Hospital, Boston, MA

Maturation of Barth syndrome models for clinical translation
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

*Funding for this award was provided by Barth Syndrome Trust (UK and Europe)


Colin Phoon, MPhil, MD, Associate Professor, New York University Medical Center, New York, NY

Role of mitochondria during myocardial morphogenesis in Barth syndrome 
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

*Funding for this award was provided by BSF's Paula and Woody Varner Fund

Yuguang

Yuguang (Roger) Shi, PhD, Professor, Pennsylvania State University School of Medicine, Hershey, PA

Regulation of cardiomyopathy by ALCAT1 in Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

Adam Chicco, PhD, Assistant Professor, Colorado State University, Fort Collins, CO

Mechanisms of substrate-specific impairment of oxidative phosphorylation in taz-deficient cardiac mitochondria
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

Angela Corcelli, PhD, Associate Professor, University of Bari Aldo Moro, Bari, Italy

Determination of the monolysocardiolipin/cardiolipin (MLCL/CL) ratio in intact nucleated cells: A new tool for the screening of Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $36,300 over 1-year period

*Funding for this award was provided by the Association Barth France

Richard Epand, PhD, Professor, McMaster University, Hamilton, Ontario, Canada

Relationship between membrane physical properties and the action of tafazzin
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $37,950 over 2-year period

*Partial funding for this award was provided by the Barth Syndrome Foundation of Canada


Matthew P. Gillum, PhD, Research Assistant Professor, University of Iowa, Iowa City, IA

Implications of phosphatidylserine deficiency in skeletal muscle and heart of ROSA26-taz shRNATet-on mouse model of Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period


Robert Ryan, PhD, Senior Scientist, Children´s Hospital and Research Center at Oakland, Oakland, CA

Cardiolipin replacement therapy for Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

 

Michael T. Chin, MD, PhD, Associate Professor, University of Washington, Seattle, WA

Tafazzin enzyme replacement therapy for heart muscle in Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

2011 Grant Cycle

Steven M. Claypool, PhD, Assistant Professor, The Johns Hopkins University, Baltimore, MD

Characterizing endogenous mammalian TAZ1
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period


William T. Pu, MD, Associate Professor, Children´s Hospital of Boston, Boston, MA

Using induced pluripotent stem cells and modified RNAs to model and correct Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period


Mindong Ren, PhD, Assistant Professor, New York University School of Medicine, New York, NY

Drug repositioning for Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period


Miriam Greenberg, PhD, Professor, Wayne State University, Detroit, MI

Cardiolipin deficiency leads to defects in the TCA cycle
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

*Funding for this award was provided by Association Barth France


W. Todd Cade, PT, PhD, Assistant Professor, Washington University School of Medicine, St. Louis, MO

Effects of resistance training on cardiac, metabolic, and muscle function and quality of life in Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $39,937 over 1-year period


Grant Hatch, PhD, Professor, University of Manitoba, Winnipeg, Manitoba, Canada

MLCL AT-1 elevates cardiolipin and mitochondrial function in cardiac myocytes of taz knockdown mice
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

*Funding for this award was provided by the Barth Syndrome Foundation of Canada


Yana Sandlers, PhD, Assistant Director of Biochemical Genetics, Kennedy Krieger Institute, Baltimore, MD

Characterization of biochemical abnormalities in Barth syndrome patients and mouse model of Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $21,065 over 1-year period


Ji Zhang, MD, PhD, Assistant Project Scientist, University of California at San Diego, San Diego, CA

Functional characterization of a mitochondrial lipid phosphatase that involves cardiolipin biosynthesis
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 2-year period


Junhwan Kim, PhD, Research Associate, Case Western Research University, Cleveland, OH

Causative and correlative role of cardiolipin on integrated mitochondrial function in Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

2010 Grant Cycle

Barry J. Byrne, MD, PhD, Associate Chair Pediatrics, Director Powell Gene Therapy Center
Professor of Cardiology
, University of Florida, Gainesville, FL

Gene therapy in mouse model of Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $39,820 over 1-year period

Colin K. Phoon, MPhil, MD, Associate Professor, New York University School of Medicine, New York, NY

Cardiomyopathy in a mouse model of Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 2-year period

Adam J. Chicco, PhD, Assistant Professor, Colorado State University, Fort Collins, CO

Targeting cardiolipin deficiency in the taz shRNA mouse model of Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 2-year period

Anton I. de Kroon, PhD, Docent (Associate Professor), Utrecht University, Utrecht, The Netherlands

The preferred acyl chain donor of Taz1p in the acylation of monolysocardiolipin
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 2-year period

*Funding for this award was provided by Barth Syndrome Trust (UK & Europe)


Bram Van Raam, PhD, Postdoctoral Associate, Sanford-Burnham Medical Research Institute, La Jolla, CA

Caspase-8 in control of mitochondrial metabolism
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 2-year period

Miriam Greenberg, PhD, Professor, Wayne State University, Detroit, MI

Loss of cardiolipin leads to defective mitochondrial iron/sulfur biosynthesis and iron homeostasis
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

Christopher McMaster, PhD, Professor, Dalhousie University, Halifax, Nova Scotia, Canada

A screen for drug leads for the treatment of Barth syndrome
(Read more... Author Abstract ~ Associated Publications/Presentations To Date)

Award — US $38,350 over 1-year period

*Funding for this award was provided by Barth Syndrome Foundation of Canada

2009 Grant Cycle

Zaza Khuchua, PhD, Research Associate Professor, Children´s Hospital Medical Center, Cincinnati, OH

The shRNA-mediated tafazzin knockdown mouse model for Barth syndrome
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $39,998 over 2-year period

Michael A. Kiebish, PhD, Postdoctoral Research Associate, Washington University School of Medicine, St. Louis, MO

Does cardiolipin synthase upregulation alleviate cardiolipin abnormalities and bioenergetic dysfunction in Barth syndrome?
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 2-year period

Miriam Greenberg, PhD, Professor and Associate Dean, Wayne State University, Detroit, MI

Perturbation of mitophagy in cardiolipin mutants
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

*Funding for this award was provided by Barth Syndrome Trust (UK & Europe)

Yang Xu, PhD, MD, Instructor, New York University School of Medicine, New York, NY

Expression levels, localization, and function of tafazzin isoforms

Award — US $38,370 over 2-year period

W. Todd Cade, PT, PhD, Assistant Professor, Washington University School of Medicine, St. Louis, MO

Safety and efficacy of aerobic exercise training in Barth syndrome: A pilot study
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $39,600 over 2-year period

Grant Hatch, PhD, Professor, University of Manitoba, Winnipeg, Manitoba, Canada

Role of human monolysocardiolipin acyltransferase in Barth syndrome
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

*Funding for this award was provided by Barth Syndrome Foundation of Canada

William Pu, MD, Associate Professor, Children´s Hospital of Boston, Boston, MA

Analysis of metabolic abnormalities in TAZ-deficient cardiomyocytes
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

2008 Grant Cycle

W. Todd Cade, PT, PhD, Assistant Professor, Washington University School of Medicine, St. Louis, MO

Characterization of nutrient metabolism in Barth syndrome
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $39,998 over 1-year period

Miriam L. Greenberg, PhD, Professor and Associate Dean, Wayne State University, Detroit, MI

The role of tafazzin in mitochondrial protein import — Implications for Barth syndrome
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

*Funding for this award was provided by Barth Syndrome Foundation and Barth Syndrome Foundation of Canada

Genevieve Sparagna, PhD, University of Colorado at Boulder, Boulder, CO

Fatty acid combinational therapy for Barth syndrome investigated using a rat model of heart failure
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 2-year period

Ashim Malhotra, PhD, Postdoctoral Fellow, New York University School of Medicine, New York, New York

The role of cardiolipin and phosphatidylethanolamine in the maintenance of mitochondrial membrane architecture
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $23,980 over 1-year period

2007 Grant Cycle

Miriam Greenberg, PhD, Professor and Associate Dean, Wayne State University, Detroit, MI

Perturbation of the osmotic stress response in cardiolipin deficient mutants
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

Carol P. Moreno-Quinn, MD, PhD, Assistant Professor, Medical College of Wisconsin, Milwaukee, WI

Creation of a rat model of Barth syndrome

Award — US $40,000 over 1-year period

Quan He, PhD, Research Scientist, Henry Ford Hospital, Detroit, MI

Are reactive oxygen species involved in the development of dilated cardiomyopathy in Barth syndrome?
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $39,996 over 2-year period

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

Prevalence of Barth syndrome in adult cardiomyopathies

(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $33,701 over 1-year period

David Dale, MD, Professor of Medicine, University of Washington, Seattle, WA

Neutropenia in Barth syndrome

(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

Taco Kuijpers, MD, PhD, Professor, University of Amsterdam, Amsterdam, The Netherlands

Neutropenia in Barth syndrome: New in vitro models to study BTHS neutrophils

Award — US $40,000 over 1-year period

*Funding for this award was provided by Barth Syndrome Trust (UK & Europe)

Richard Epand, PhD, Professor, McMaster University, Hamilton, ON, Canada

Consequences of the alteration of cardiolipin structure on the properties of the mitochondrial membranes
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $38,900 over 1-year period

*Funding for this award was provided by Barth Syndrome Foundation of Canada

Susan Kirwin, Senior Research Associate, Assistant Director, Nemours Children´s Clinic, Alfred I. duPont Hospital for Children, Wilmington, DE

Barth syndrome testing: Are we missing some patients?
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $24,145 over 1-year period

Christopher R. McMaster, PhD, Professor, Dalhousie University, Halifax, Nova Scotia, Canada

Synthetic genetics towards understanding Barth syndrome cell biology
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

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

Mindong Ren, PhD, Assistant Professor, New York University, New York, NY

Pathogenetic mechanism and genetic suppressors of Barth syndrome

(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

Miriam Greenberg, PhD, Professor and Associate Dean, Wayne State University, Detroit, MI

The role of phosphatidylglycerol in activating Protein Kinase C mediated signaling

(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

Genevieve Sparagna, PhD, Faculty Research Associate, University of Colorado, Boulder, CO

Regulation of cardiolipin remodeling in the heart studied using a rat model of heart failure
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 2-year period

Michele M. M. Mazzocco, PhD, Associate Professor, Johns Hopkins School of Medicine, Baltimore, MD

Early indices of learning difficulties in young boys with Barth syndrome

(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1.5-year period


Carolyn Spencer, MD, Assistant Professor, University of Florida, Gainesville, FL

Cardiac and skeletal muscle in Barth syndrome: Evaluation of functional capacity and energy metabolism
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $39,600 over 2-year period

Willem Kulik, PhD, Head Mass Spectrometry/Metabolomics, University of Amsterdam, Amsterdam, The Netherlands

Development of BTHS screening using bloodspots and HPLC tandem mass spectrometry
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $30,000 over 1-year period

*Funding for this award was provided by Barth Syndrome Trust (UK & Europe)

Frédéric M. Vaz, PhD, Departments of Pediatrics & Clinical Chemistry, University of Amsterdam, Amsterdam, The Netherlands

Identification of the proteins interacting with tafazzin and resolution of the consequences of the deficiency of cardiolipin at the protein level
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $40,000 over 1-year period

*Funding for this award was provided by Barth Syndrome Foundation and Barth Syndrome Trust (UK & Europe)

Toshihide Kobayashi, PhD, Chief Scientist, Director of Lipid Biology Laboratory, RIKEN, Wako, Saitama, Japan

Organization of cardiolipin in Barth syndrome
(Read more... Author Summary ~ Associated Publications/Presentations To Date)

Award — US $39,600 over two-year period

2005 Grant Cycle

Miriam L. Greenberg, PhD, Professor, Biological Sciences, Associate Dean for Research, Wayne State University, Detroit, MI

Does copper deficiency play a role in Barth syndrome?

Award — US $40,000 over 1-year period

Thomas H. Haines, PhD, Professor, Chemistry and Biochemistry, City College of the City University of New York, New York, NY

A role for cardiolipin in Barth syndrome

Award — US $40,000 over 1-year period

Grant M. Hatch, PhD, Professor, Pharmacology and Therapeutics; Acting Associate Dean of Medicine for Research, University of Manitoba, Winnipeg, Manitoba, Canada

Cholesterol metabolism in Barth syndrome

Award — US $40,000 over 2-year period

*Funding for this award was provided by Barth Syndrome Foundation and Barth Syndrome Foundation of Canada

Toshihide Kobayashi, PhD, Chief Scientist, Director of Lipid Biology Laboratory, RIKEN, Wako, Saitama, Japan

Characterization of endosome specific lipid lysobisphosphatidic acid in lymphoblasts from patients with Barth syndrome

Award — US $23,100 over 1-year period

Eric A. Storch, PhD, Assistant Professor, Psychiatry and Pediatrics, University of Florida, Gainesville, FL

Psychosocial aspects of Barth syndrome: Quality of life, family functioning, and relationship to biologic variables

Award — US $20,701 over 1.5-year period

2004 Grant Cycle

Willem Kulik, PhD, Head, Mass Spectrometry/Metabolomics, University of Amsterdam/AMC, Amsterdam, The Netherlands

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

Award — US $37,000 over 1-year period

Mindong Ren, PhD, Assistant Professor of Cell Biology, New York University School of Medicine, New York, NY

A drosophila model of Barth syndrome

Award — US $40,000 over 2-year period (revised)

 

Carolyn T. Spencer, MD, Assistant Professor, Pediatric Cardiology, University of Florida, Gainesville, FL

Cardiac functional and electrophysiological abnormalities in Barth syndrome

Award — US $40,000 over 2-year period

Arnold W. Strauss, MD, Professor and Chair, Pediatrics, Vanderbilt University Medical Center, Nashville, TN

Tafazzin function in animal models of Barth syndrome

Award — US $40,000 over 1-year period

2003 Grant Cycle

David C. Dale, MD, Professor of Medicine, University of Washington, Seattle, WA

Neutropenia in Barth syndrome

Award — US $40,000 over 2-year period

Mauro Degli Esposti, PhD, Lecturer in Molecular Toxicology, The University of Manchester, Manchester, UK

Bid and cardiolipin metabolism: Impact on neutropenia and lymphoma predisposition

Award — US $30,000 over 1-year period

Taco W. Kuijpers, MD, PhD, Professor in Pediatric Hematology, Immunology & Infectious Disease,
Emma Children´s Hospital/Academic Medical Center, Amsterdam, The Netherlands

Neutrophil function in Barth syndrome in relation to annexin-V binding and cell death

Award — US $40,000 over 2-year period

Cathryn S. Mah, PhD, Research Assistant Professor, Pediatrics, University of Florida, Gainesville, FL

Genetic analysis of Barth syndrome

Award — US $40,000 over 2-year period

Yang Xu, MD, PhD, Research Assistant Scientist, Department of Anesthesiology, New York University School of Medicine, New York, NY

Is tafazzin a phospholipid transacylase?

Award — US $23,760 over 2-year period

2002 Grant Cycle

Iris L. Gonzalez, PhD, Senior Research Scientist, A.I. DuPont Hospital for Children, Wilmington, DE

A study of TAZ mRNAs in Barth syndrome individuals

Award — US $13,310 over 1.5-year period

Miriam L. Greenberg, PhD, Professor, Biological Sciences, Wayne State University, Detroit, MI

TAZ1 gene function in yeast: A molecular model for Barth syndrome

Award — US $39,630 over 2-year period

Grant M. Hatch, PhD, Professor, Pharmacology & Therapeutics, University of Manitoba, Winnipeg, Manitoba, Canada

The molecular mechanism of Barth syndrome

Award — US $18,287 over 1-year period

Arnold W. Strauss, MD, Professor and Chairman, Pediatrics, Vanderbilt University Medical Center, Nashville, TN

A mouse gene ablation model of Barth syndrome

Award — US $40,000 over 1-year period

Frédéric M. Vaz, PhD, Laboratory of Genetic Metabolic Disorders, Academic Medical Center, Amsterdam, The Netherlands

Resolution of the function of the TAZ-gene and characterization of its gene products


Award — US $37,715 over 1-year period

Last Updated: 2017-03-07

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