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

Barth Syndrome Trust image

Barth Syndrome Trust image


Grants Funded by Barth Syndrome Trust

Over the years, we have worked with the Barth Syndrome Foundation and fundraising efforts from UK and European families and friends have allowed us to fund several exciting grants designed to further our knowledge of Barth syndrome. For a full list of grants awarded by BSF click here




Borko Amulic, PhD, Lecturer (Assistant Professor), University of Bristol, Bristol, UK

Neutrophil dysfunction in Barth syndrome 
Award: US $49,967 over 2-year period

Funded in equal parts by Barth Syndrome UK and BSF USA


Barth syndrome (BTHS) is an X-linked genetic disease caused by loss-of-function mutations in the tafazzin (TAZ) gene, leading to mitochondrial dysfunction and neutropenia, cardioskeletal myopathy and growth delay. Neutropenia is found in 80% of BTHS patients and is accompanied by a risk of life-threatening bacterial infections. The molecular mechanism underlying neutropenia in BTHS has not been fully elucidated. We will examine neutrophils from patients under the care of the UK NHS Barth Syndrome Service to test the hypotheses that mitochondrial defects lead to breakdown of neutrophil homeostasis and impaired antimicrobial function. Specifically, we will analyse (1) metabolism, (2) a neutrophil-specific cell death pathway called NETosis and (3) anti-microbial effector functions, in order to gain insight into disease mechanisms leading to neutrophil dysfunction.



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

*Co-funded by Barth Syndrome Trust and Barth Syndrome Foundation

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

*Co-funded by Barth Syndrome Trust and Barth Syndrome Foundation



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

Characterisation of a conditional knockout of tafazzin in the mouse

Award — US $49,837 over 2-year period



William T. Pu, MD, Associate Professor

Children´s Hospital of Boston, Boston, MA

Maturation of Barth syndrome models for clinical translation.

Award—US $40,000 over 1-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.
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.
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



Willem Kulik, PhD Head Mass Spectrometry/Metabolomics
University of Amsterdam,Amsterdam, The Netherlands
Development of BTHS screening using bloodspots and HPLC tandem mass spectrometry.
Award — US $30,000 over 1-year period



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.
Award — US $40,000 over 1-year period (Funding for this award was provided by Barth Syndrome Foundation  and Barth Syndrome Trust)

Barth Syndrome Trust graphic

Over $285 000 (£215 000) funded so far through UK efforts

As at 2018 we have funded  nearly $285 000 in research projects related to Barth syndrome.


If you are a scientist interested in this multidisciplinary condition, please contact us to see how we can help.

Barth Syndrome Trust graphic
Barth Syndrome Trust graphic
Barth Syndrome Trust graphic