January 28, 2019
12pm EST (9am PST)
Presented by Cristy Balcells RN MSN & James Valentine JD MHS
This is a free informational webinar, forum and opportunity to ask questions, offered in partnership by MitoAction, UMDF, BSF and Stealth BioTherapeutics.
All are welcome.
Learn how to search, find, and participate in clinical trials for people with rare conditions such as mitochondrial disease.
Unlike trials for more common disorders, clinical trials for rare diseases present challenges as well as unique opportunities for patients living with rare conditions.
Learn more about your critical role as a patient and how you can help influence the future of mitochondrial medicine and therapeutics in 2019 and beyond.
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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