The Barth Syndrome Foundation is the only world-wide volunteer organization dedicated to saving lives through education, advances in treatment, and finding a cure for Barth syndrome (BTHS). The Foundation started in 2000, after the first international conference held in Baltimore, M.D. where families from around the world met to discuss BTHS. The Foundation strives to accelerate progress through collaboration between families and scientists, and encourage family participation in research.
The Barth Syndrome Foundation is an international organization, with affiliates in Canada, the UK, France and Italy, that supports families living worldwide, knowing that it is only through a unified approach that the community can succeed in finding a cure for this rare disease. The Foundation and its affiliates are dedicated to generating a positive force to ensure that Barth syndrome no longer causes suffering or loss of life.
Barth syndrome is a serious X-linked genetic disorder, primarily affecting boys and men, caused by a mutation in the tafazzin gene that results in an inborn error of lipid metabolism. While the Foundation funds research specific to Barth syndrome, research has also found that there are implications outside of this rare disease that has a much broader reach in areas like heart disease or diabetes.
“Without medical research, those affected by Barth syndrome will continue to suffer,” said Lindsay B. Groff, MBA, Executive Director of BSF. “Research is vital to find answers to the underlying questions about Barth syndrome.”
BSF provides 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. Prior to BSF’s grant program, there were few, if any, drug discovery plans for Barth syndrome. Currently, there are plans to test Barth syndrome-specific therapies in humans. These specific therapies go beyond what has been done so far by taking advantage of the research knowledge gained over the years. There are now several different therapeutic ideas that may make a real difference for those suffering from the disease.
Major challenges, Groff said, are shared by everyone advocating for rare diseases: “One, lack of funding. We must continue to support efforts to increase funding for all medical research. Two, we need to find a better way for researchers to work together, collaboratively, without fear of competition.”
Collaboration is a particular challenge in research, Groff said, but it is important to have people work together instead of in silos. Every two years, BSF convenes a conference bringing scientists and patients together to help foster that collaboration. In 2016, the International Scientific, Medical and Family Conference brought together 80 researchers and clinicians and 201 affected family members.
At the conference scientists and clinicians come to know the names and stories of the young people who suffer from this disease, and families appreciate their own critical role in helping researchers prove the safety and efficacy of proposed treatments by testing them in their own children. Finding successful treatments and a cure for Barth syndrome becomes a very personal thing for everyone on the team, Groff explained.
BSF is committed to advocate for families and patients, and constantly seeks new resources to assist in ways to become better informed and opportunities to build our skills for the organization.
“When Research!America increases public and policymaker awareness of the health and economic benefits of medical research and builds a strong base of citizen support for more research and innovation, we all win,” Groff said. “Not one of us can do this alone.”