Austin, Texas – June 9, 2015 – Beyond Batten Disease Foundation (BBDF) announces groundbreaking research published in Nature Cell Biology. The lysosome biology research is leading the way to a cure for juvenile Batten Disease.
“We think this research is our strongest candidate for therapeutic development for juvenile Batten Disease and understanding lysosome biology is the way to find a cure for this devastating disease,” said Danielle M. Kerkovich, PhD, BBDF Principal Scientist.
Published by Andrea Ballabio, M.D. and colleagues, “Lysosomal calcium signaling regulates autophagy through calcineurin and TFEB” explains the group’s most recent findings. In 2009, these researchers discovered TFEB, a master regulator of lysosomal function, and have since been investigating its intricacies. Their recent findings demonstrate that TFEB is part of a highly complex cellular system regulated by multiple mechanisms including fluctuations in calcium. These findings underscore the importance of knowing how cellular processes work in order to identify and further develop medications to treat disease.
In September 2009, a $2.5 million gift from the to the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital (TCH) from Jim and Cheri Flores and BBDF paved the way for Drs. Andrea Ballabio, Marco Sardiello and their colleagues to establish laboratories at NRI in Houston, Texas, to work in collaboration to understand TFEB and to begin an initial exploration of whether TFEB could be manipulated to promote cellular clearance in juvenile Batten Disease.
The $2.5 million dollar gift is the largest single research award ever made in this disease area. The mission of the BBDF is to increase awareness and raise research funds to find a cure.
BBDF is urgently working to speed up rare disease research. A sign of progress is shown when scientific discoveries are published in prestigious scientific publications like Nature. Forty percent of all scientific publications across 13,000 science and technology journals are never cited beyond a single publication. As of today, BBDF-funded research has led to 18 publications cited over 1,475 times.
Focusing on the needs of scientists, Nature (founded in 1869) is the leading weekly, international scientific journal. Nature Publishing Group (NPG) publishes a range of Nature research journals and Nature Reviews journals, and a range of prestigious academic and partner journals including society-owned publications. Online, nature.com provides over 6 million visitors per month with access to NPG publications and services, including news and comment from Nature.
About Beyond Batten Disease Foundation
Beyond Batten Disease Foundation (BBDF) is the world’s largest organization dedicated to funding research for a treatment or cure for juvenile Batten disease. Batten disease is a rare, inherited pediatric neurological disorder, which begins with vision loss and seizures, followed by cognitive and motor impairment, and ultimately death by the late teens or 20s. Since its inception in 2008, BBDF has raised over $14.6 million for research through donations, co-funding, leveraging and partnerships. BBDF is spearheading a unique, cohesive strategy, incorporating independent scientific resources and collaboration with related organizations to drive research in Batten Disease. For more information, visit www.beyondbatten.org