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

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Grants Funded by Barth Syndrome UK


Investigating the basis of neutropenia in Barth Syndrome

Borko Amulic, Professor, University of Bristol

Idea Award, $50,000 over one year

We're pleased to announce a new project, co-funded equally by Barth Syndrome UK and Barth Syndrome Foundation of Canada. This research project - led by Profs Borko Amulic and Colin Steward in Bristol, UK - hopes to increase our understanding of neutropenia in Barth syndrome, i.e. why people with Barth syndrome have neutropenia and why their neutrophil counts fluctuate so much at times.  


Aim 1:Profs Amulic and Steward will run experiments on the cells that become neutrophils to see what they do under normal circumstances. They’ll take and compare the following cells:

1.      Cells from healthy people (control)
2.      Cells from healthy people with the Barth gene TAFAZZIN knocked out (using CRISPR)
3.      Cells from Bristol Barth patients (we in the UK are accelerating research because we have the double arm of medicine and research in Bristol and access to our community’s actual cells is a huge deal)


What they’re looking for: Is there a difference between Barth cells and ‘normal’ cells under NORMAL circumstances? 


Then they’ll repeat the process this time subjecting the cells to infections/inflammation/stress – i.e. Does the difference only reveal itself under conditions of stress/illness? This could lead to some interesting new information.

 Aim 2Why are granules excessively released by Barth patients and what is their effect?

 Neutrophils kill invading bacteria and fungi in at least 3 different ways:

1.      They engulf the bacterium and destroy it (phagocytosis)
2.      They create traps (NETosis)
3.      They release granules directed at a bacterium (degranulation)

It’s this third function that Borko and Colin will concentrate on now: why are granules released more readily/inappropriately by Barth patients and what is their effect?


Why are they focusing on this particular function (as opposed to the other two mentioned)? Because their previous research has taught them that Barth cells are quicker to release granules compared to controls.  And Barth cells release more granules. This is called hyperdegranulation. Why could this be? 


With Barth neutrophils releasing more granules and releasing them faster, we’d expect Barth patients to have higher numbers of neutrophils when we test their blood, instead we find the opposite.  


Hypothesis: perhaps the reason for this is that the granules are getting stuck in the tissues and are less mobile than they should be? 

Again, they’ll do experiments on Barth knockout mouse cells as well as cells from Barth patients who attend the Bristol clinics. They’ll be able to see if the neutrophils are getting stuck in the tissues.

The value of this project lies in the fact that Prof Amulic is using new tools and ways to look at neutropenia in Barth syndrome.

This research project could lead to a better understanding of the cause and effect of neutropenia in Barth syndrome. 


Our special thanks go to all our donors and fundraisers.  Your efforts allow us to continue funding important pieces of work that we hope will lead to a better understanding of Barth syndrome and better treatment options for our community.




Surveying TAZ genetic interactions and mutational landscape in human cells

Jason Moffat, PhD, Professor, University of Toronto

Idea Award, $50,000 over one year


Awarded to Prof. Jason Moffat and Prof. Charles Boone of the University of Toronto, this Idea Award enables us to better understand the TAFAZZIN gene, in and out. Inwardly, Dr. Moffat proposes to connect changes in gene sequences to their functional consequences on protein function. Known as deep mutational scanning, this effort has the potential to expand our understanding about gene variants in our community.


Outwardly, via a CRISPR-mediated genome-wide screen, Dr. Moffat proposes to identify genes that interact with TAFAZZIN and recorded gene variants. By increasing our understanding of TAFAZZIN interactions as well as gene variants and mutations’ impact on tafazzin protein function, the research team seeks to identify insights into the variable manifestations, or phenotype, of Barth syndrome.


This project is being jointly funded by Barth Syndrome UK and Barth Syndrome Foundation of Canada.




Investigation of a new nutraceutical for treatment of Barth Syndrome

Robin E. Duncan, PhD, Associate Professor, University of Waterloo, Waterloo, Ontario, Canada - $41,580 over 2-year period 

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 is being jointly funded by Barth Syndrome UK and Barth Syndrome Foundation of Canada.



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 £300 000 funded so far through UK efforts

As at 2023 BS UK has have funded  over £300 000 in different 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