Barth syndrome stalks young patients, weakening heart and skeletal muscles, stunting growth and shortening their lives. University of Florida Health researchers and their colleagues have now discovered a promising solution: a gene replacement therapy that delivered significant improvement in mice.
The researchers tested a trio of promoters — genetic “cues” that initiate the expression of a gene’s DNA sequence. In Barth syndrome patients, mutations in a specific gene deprive the heart and skeletal muscles of the ability to efficiently perform their highly energetic functions. One of the promoters tested, known as Des, was particularly effective at providing the necessary levels of gene expression and improving heart and skeletal muscle function in both young and adult Barth mice. The findings were published recently in an online version of the journal Human Gene Therapy.
It is the first time that a potential treatment has been shown to normalize many aspects of Barth syndrome, said Christina A. Pacak, Ph.D., a pediatrics researcher in the UF College of Medicine. Barth syndrome is a relatively rare genetic disorder that affects about one in 300,000 people worldwide, according to the National Institutes of Health. In addition to enlarging and weakening the heart and diminishing muscles used for movement, it also reduces white blood cells and patients’ height. Read more...
Part of BSF's mission is to encourage research and researchers to better understand Barth syndrome and to help discover and clinically test specific treatments or find a cure. The BSF Research Grant Program has been doing this since 2002 by offering "seed" grants to researchers with the hope that the results from these seed grants will garner additional support from major funding institutions like the National Institutes of Health (NIH) and others. The list of funding opportunities is compiled to help our research community members advance towards our common goal.
Barth Syndrome Journal Volume 18 Issue 2
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The Barth Syndrome Foundation, Inc. (BSF) and its international affiliates announce the availability of funding for basic science and clinical research on the natural history, biochemical basis, and treatment of Barth syndrome. There are two basic categories: IDEA grants for 1-2 years and DEVELOPMENT grants for 2-3 years with budgetary maximums of US $50,000 or $100,000, respectively. Although BSF will consider any research proposal related to Barth syndrome, it is particularly interested in supporting research in the areas identified by REQUEST FOR APPLICATIONS (RFAs) that are posted on its website. RFAs for work in clinical/scientific areas that BSF considers to be high priority areas of investigation may have increased budgetary maximums and other requirements (see the BSF website for details about any RFAs). Applications responding to RFAs will be given preferential consideration in the BSF Research Grant Program.
BSF's Research Grant Program now requires all applicants to be independent investigators (e.g., faculty appointment). Postdoctoral fellows cannot apply. BSF allows young, non-tenured investigators to include in their submitted budget up to 75% of the total grant amount as PI salary. In addition, for those clinical applications where volunteers must travel to a clinical research site, these travel expenses will be handled separately and will be excluded from the budget maximums mentioned above. We encourage independent investigators at all professional levels to submit their best ideas. There are no geographical limitations to this funding.
The deadline for submission of the completed research grant application is October 31, 2018, and grants will be awarded in late February, 2019. The deadline for the one-page "Letter of Intent," if applicable, is September 21, 2018.