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Presentations and Abstracts

Convened on July 20-22, 2022, BSF proudly shares the full presentations, abstracts, and Q&A from our second virtual Scientific and Medical Symposium.

With over 100 unique views each day and composed of presenters and attendees from all across the world, this event demonstrates the global scope of the BTHS community of patients, families, researchers, and clinicians.

Symposium Insights and Outcomes - by the numbers

All presentations and abstracts are viewable below, and we graciously thank all of our speakers for their willingness to share their work and progress with the broader BTHS community.

Barth Syndrome Cardiomyopathy: Challenges & Opportunities

Chaired by Miriam Greenberg, Wayne State University

Extended recovery of cardiac function after severe infantile cardiomyopathy presentation in Barth syndrome -Jessie Yester, UPMC Children’s Hospital of Pittsburgh (Watch Video)

Longitudinal observational study of cardiac outcome risk factor prediction in children, adolescents, and adults with Barth syndrome - Carolyn Taylor, Medical University of South Carolina (Watch Video)

The Barth Syndrome Arrhythmia Project - Colin Phoon & Reina Tan, NYU Langone Health (Watch Video)

Panel Discussion Q&A- Colin Phoon, Reina Tan, Carolyn Taylor, Jessie Yester (Watch Video)


Treatment & Quality of Life for Barth Syndrome

Chaired by Hilary Vernon, Johns Hopkins University and at the Kennedy Krieger Institute

Opening Remarks - John Wilkins, Barth syndrome Affected Individual (Watch Video)

Qualitative and quantitative measure of fatigue in Barth syndrome - Stacey Reynolds, Virginia Commonwealth University (Watch Video)

Quality of life in Barth syndrome - Brittany Hornby, Kennedy Krieger Institute (Watch Video)

Elamipretide in patients with Barth syndrome: A randomized, double-blind, placebo controlled clinical trial followed by 36-week open label extension - Jim Carr, Stealth BioTherapeutics (Watch Video)

Panel Discussion Q&A - Jim Carr, Brittany Hornby, Stacey Reynolds (Watch Video)

Barth Syndrome Biology

Chaired by Grant Hatch, University of Manitoba

Barth syndrome’s unsung phenotype: 3-methylglutaconic aciduria - Elizabeth A. Jennings, University of Nevada, Reno (Watch Video)

Engineered isoforms of Tafazzin: activity, stability, and potential therapeutic utility - Michael T. Chin, Tufts Medical Center (Watch Video)

Advances in understanding cardiolipin synthesis and pathological effects of dysregulation in cells and animals - Robin E. Duncan, University of Waterloo (Watch Video)

Panel Discussion Q&A - Michael T. Chin, Robin E. Duncan, Elizabeth A. Jennings (Watch Video)


Barth Syndrome in Physiology

Chaired by Erik Lontok, Barth Syndrome Foundation

Genomewide association study in a mouse model of Barth syndrome - Suya Wang, Boston Children’s Hospital (Watch Video)

Activation of stress response signaling rewires cardiac metabolism in Barth syndrome - Jan Dudek, University of Würzburg (Watch Video)

The molecular composition of cardiolipins is tightly coupled with the nutrional lipid environment - Markus A. Keller, Medical University of Innsbruck (Watch Video)

Panel Discussion Q&A - Jan Dudek, Markus A. Keller, Suya Wang (Watch Video)

Lunch Program

Strategic Partnerships with Barth Syndrome Foundation - Erik Lontok, Barth Syndrome Foundation (Watch Video)

Cardiolipin in Physiology

Chaired by Steven Claypool, Johns Hopkins University

Cardiolipin coordinates lipolysaccharide-induced respiratory Complex II diassembly & degradation - Mack B. Reynolds, University of Michigan Medical School (Watch Video)

Cardiolipin bound to mitochondrial ADP/ATP carrier supports the structure and transport-related function - Nanami Senoo, Johns Hopkins University School of Medicine (Watch Video)

Cardiolipin metabolism regulates myoD1 expression and muscle development Linh Vo - Wayne State University (Watch Video)

Panel Discussion Q&A - Jan Dudek, Markus A. Keller, Suya Wang (Watch Video)

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