This international conference will: 1) bring together the principal physicians and scientists working on major biochemical, genetic, and clinical questions about Barth syndrome;2) increase the number of researchers and physicians involved with Barth syndrome;3) foster interdisciplinary discussion among the attendees in order to promote working collaborations and to help set the agenda for research that suggests specific therapies for Barth syndrome;4) provide a forum to evaluate these specific therapies;5) promote the communication and publication of material directly related to Barth syndrome. Previous conferences in this series have heralded several significant scientific advances. What remains elusive is the clinical translation of what we know about the dysfunction of the tafazzin gene (the gene linked with Barth syndrome) into a specific therapy(s). A more comprehensive understanding of how tafazzin deficiency leads to the morbidity and mortality associated with Barth syndrome is still needed. Invigorated by these biennial exchanges of scientific/medical information, the Barth syndrome research community can now point to clinically-relevant accomplishments and many significant scientific achievements. These biennial Conferences accelerate the timeframe of these advancements by directly encouraging the specific researchers and physicians involved with Barth syndrome. These meetings bring together the key scientists and clinicians who can translate the accumulated research knowledge into potential treatments and who also can evaluate these treatments in the context of the life-threatening problems of Barth syndrome. Aside from the Scientific and Medical Advisory Board of the BSF, there is no other forum where this important discussion can meaningfully take place. Because Barth syndrome individuals die each year from this disease, we need these Conferences to communicate/discuss accomplishments, to stimulate new progress, and to encourage the scientific-medical community. Individuals with an orphan disease such as Barth syndrome have few allies in the quest to find a treatment or a cure for their affliction. Patient advocacy groups, like the Barth Syndrome Foundation Inc., have realized that progress towards obtaining this goal is facilitated by encouraging quality scientific and medical meetings. These meetings or conferences about Barth syndrome enhance and disseminate the progress made towards finding a specific treatment which may advantageously impact other more populated medical conditions with similar symptoms.
Individuals with an orphan disease such as Barth syndrome have few allies in the quest to find a treatment or a cure for their affliction. Patient advocacy groups, like the Barth Syndrome Foundation Inc., have realized that progress towards obtaining this goal is facilitated by encouraging quality scientific and medical meetings. These meetings or conferences about Barth syndrome enhance and disseminate the progress made towards finding a specific treatment which may advantageously impact other more populated medical conditions with similar symptoms.
