Project Summary Barth syndrome (BTHS) is an ultra-rare (<500 individuals identified worldwide), life-threatening genetic disease that primarily affects males. BTHS patients may develop cardiomyopathy, skeletal myopathy, neutropenia, feeding difficulties, growth delay, and/or debilitating fatigue. There is currently no cure for BTHS. Similar to many other rare diseases, developing treatments is an immense challenge due to limitations in resources and insufficient commercial interest considering the small number of people affected. Despite these obstacles, the Barth Syndrome Foundation (BSF)–a patient advocacy group for those affected by BTHS–has made its mission to save lives through education, advances in treatments, and finding a cure for the disease. A cornerstone program, for BSF to eventually realize this mission, is the biennial Scientific and Medical Conference on Barth Syndrome. Since 2000, BSF has held a biennial conference that provides a unique opportunity to stimulate new clinical and scientific progress by bringing together physicians, healthcare providers, researchers, affected individuals, and their families. The 2014, 2016, and 2018 conferences ushered in an era of specific therapies for BTHS and two clinical trials, TAZPOWER and CARDIOMAN. Virtual symposia were held in 2020 and 2022, where researchers presented the first proof-of-concept for AAV gene therapy in BTHS mouse models, extant therapies for cardiomyopathy including heart transplantation, and promising findings in the elamipretide open label extension data. The “2024 Scientific and Medical Conference on Barth Syndrome: Benchtop to Treatments,” provides a unique opportunity to stimulate new clinical and scientific progress. At the 2024 conference, physicians, healthcare providers, researchers, and the affected community will meet in an intimate and supportive environment. Aligned with our theme of “Benchtop to Treatments,” a novel focus for our 2024 conference will be on clinical trial readiness, which is critical in developing therapies for BTHS to achieve the overarching goal of a world where BTHS no longer causes suffering or loss of life.