Research Grant Program

Application Types

Idea

• Funding: Up to US $50,000 (Total Cost)
• Duration: 1–2 years
• Best suited for:
  • Basic research
  • Discovery science
  • Projects with limited preliminary data

Development

• Funding: Up to US $100,000 (Total Cost)
• Duration: 2–3 years
• Best suited for:
  • Projects with stronger preliminary data
  • Research with clear implications for therapeutic development

For full details, visit the Barth Syndrome Grant Program – Call for Applications

Grants Funded by Barth Syndrome UK

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

Aim 1: Understanding Neutrophil Development

The team will study precursor cells that develop into neutrophils under normal conditions, comparing:

1. Cells from healthy individuals (controls)
2. Cells from healthy individuals with the TAFAZZIN gene knocked out using CRISPR
3. Cells from Barth syndrome patients in Bristol

Key question: Are there detectable differences between Barth cells and normal cells under baseline conditions?

The experiments will then be repeated under stress conditions such as infection, inflammation, or illness to determine whether differences only emerge during physiological stress.

Aim 2: Granule Release in Barth Syndrome

This aim focuses on understanding:

• Why granules are excessively released by neutrophils in Barth syndrome
• What impact this excessive release has on immune function

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.

2021 - 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.

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)

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

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.

This co-funded project was made possible by generous contributions from our affiliates Barth Syndrome Foundation of Canada, Barth Syndrome UK, and Barth Italia.'