Research Grant Program

For full information about BSF's Research efforts, please click here

Grants Funded/Part Funded by Barth Syndrome UK

2026 - Gut Microbiota and Metabolites in Barth Syndrome: Potential Mechanistic Links to Feeding and Gastrointestinal Dysfunction

• Principal Investigator: W. Todd Cade, PT, PhD, FAPTA
• Award Type: $70,752 over 1 year - Duke University (co-funded by BSF, BSF Canada and Barth Syndrome UK)

Project Overview

Many children and adults with Barth syndrome have serious difficulties with eating and digestion. These issues typically start early in life and include food refusal, vomiting, and sensitivity to textures and smells. Despite how common these problems are, scientists don't fully understand why they happen. Recent research suggests that the gut microbiome—the community of bacteria living in our intestines—might play a role as these bacteria help us digest food and produce important nutrients. There is also evidence that the mitochondria, which are parts of our cells that produce energy, may interact with gut bacteria in ways that affect health. This project will study the gut microbiome in individuals with Barth syndrome.

The expected outcome is a better understanding of how gut bacteria and their chemical products contribute to feeding and digestive problems in Barth syndrome. This could lead to new treatments, such as special diets or probiotics, that improve gut health and reduce symptoms. Ultimately, the goal is to help individuals with Barth syndrome eat better, grow stronger, and feel more comfortable.

2025 - Evaluation of ABHD18 as a target to correct Tafazzin mutant phenotypes

Jason Moffatt, PhD, The Hospital for Sick Children

2025 Award $80,000, over two years (co-funded by BSUK, BSF Canada & Barth Italia)

In a previous collaboration and through BSF seed funding, Dr. Moffatt's group identified ABHD18 as a potentially important regulator that works upstream of Tafazzin, the gene mutated in Barth syndrome. In cell and animal models of Barth syndrome, Dr. Moffatt's group and his collaborators showed that perturbing ABHD18 function prevented the symptoms associated with Barth syndrome. In this grant, Dr. Moffatt proposes to evaluate a class of drug called a small molecule inhibitor that would be designed to specifically block the activities of ABHD18. In this study, the applicant will see if small molecules can effectively block ABHD18 as a potential therapy to Barth syndrome.

2022/2023 - Investigating the Basis of Neutropenia in Barth Syndrome

• Principal Investigator: Borko Amulic, Professor, University of Bristol
• Award Type: Idea Award — $50,000 over one year

Project Overview:

We are pleased to announce a new research project co-funded equally by Barth Syndrome UK and the Barth Syndrome Foundation of Canada.

Led by Professors Borko Amulic and Colin Steward in Bristol (UK), this project aims to deepen understanding of neutropenia in Barth syndrome, specifically:

• Why people with Barth syndrome develop neutropenia
• Why neutrophil counts fluctuate significantly over time

Neutrophils normally kill invading bacteria and fungi using multiple mechanisms. This research will explore how these processes are altered in Barth syndrome and how that contributes to disease pathology.

2020 - 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.

2017 - Neutrophil dysfunction in Barth syndrome

• Borko Amulic, PhD, Lecturer (Assistant Professor), University of Bristol, Bristol, UK
• Award: US $49,967 over 2-year period

Abstract:

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.

2014

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

2013

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

2012

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

2010

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

2009

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

2007

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

2006

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

2006

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)