“Saving lives through education,
   advances in treatment, and
finding a cure for Barth syndrome”

Science & Medicine

We are a world leading source of support for research into the fundamental understanding of Barth syndrome (BTHS), diagnosis and treatments.

For researchers and scientists carrying out research we have available:

  • ‘Seed´ funding to investigators for testing initial hypotheses and collecting preliminary data leading to successful long-term funding by National Institutes of Health and other major granting institutions. Proposals are carefully scrutinized before awards are made.
  • International conference, held every two years, bringing together leading scientists and researchers from across the world. The conference has a series of events, including meetings, lectures and forums devoted to the exchange of the latest findings relating to basic research.
  • The largest active registry of individuals with BTHS. The registry is regularly updated and contains a wealth of information relating to medical histories and physiological data.

  • Access to our international Scientific & Medical Advisory Board (SMAB), which comprises world renown clinicians and scientists who are leading experts in Barth syndrome. The SMAB is an integral part of our organization. This group forms the review panel for research grants and provides scientific and medical advice and guidance to BSF's Board of Directors.
  • Access to the world´s largest reference source on published literature on BTHS.


Scientific & Medical Publications (includes up-to-date bibliography of articles relevant to Barth syndrome).

Human TAZ Gene Variants Database

Scientific & Medical Presentations

For further information, please contact Matthew J. Toth, PhD, BSF Science Director:

matthew.toth[at]barthsyndrome.org  /  barthsyndromeresearch[at]gmail.com 

Last Updated: 2016-10-25

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