BBDF Funds Researcher to Study Fundamentals of CLN3 Protein

October 19, 2015 – Austin, TX – Beyond Batten Disease Foundation (BBDF) has begun funding Susan Cotman, PhD, an Assistant Professor of Neurology at Harvard Medical School and Assistant in Neuroscience at the Massachusetts General Hospital. The focus of Dr. Cotman’s study is to determine the cellular location and function of the CLN3 protein. Although the CLN3 gene and associated mutations responsible for juvenile Batten disease were discovered 20 years ago, the primary function of the protein remains elusive. Utilizing recent advances in proteomics and biochemistry along with new antibodies and cell models developed by BBDF, Dr. Cotman hopes to better understand the CLN3 protein.

The successful completion of this project will substantially accelerate juvenile Batten disease research because key reagents and information for the study of CLN3 function and dysfunction will be established. Dr. Cotman’s work will increase our understanding of CLN3, a critical step in the path towards the creation of rational, targeted therapies.

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 (CLN3) Batten disease. Since its inception in 2008, BBDF has applied over $15.5 million towards juvenile Batten disease research by direct donations, leveraging donor-funded successes, and forming strategic partnerships. BBDF is spearheading a unique, cohesive strategy, incorporating independent scientific resources and collaboration with related organizations to drive research in juvenile Batten Disease. For more information, visit www.beyondbatten.org

Evotec and Beyond Batten Disease Foundation collaborate to advance emerging therapies to fight juvenile Batten Disease

Hamburg, Germany – 18 October 2015: Evotec AG (Frankfurt Stock Exchange: EVT, TecDAX, ISIN: DE0005664809) today announced an EVT Execute collaboration with Beyond Batten Disease Foundation (“BBDF”) aimed at discovering and developing new treatments for juvenile Batten (CLN3) disease, a rare, pediatric, fatal autosomal recessive neurodegenerative disorder.

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Beyond Batten Disease Foundation Kicks Off the First Family Night Fundraising Event at Schlitterbahn Waterpark and Sets the Second Event for September 2016

Austin, Texas – October 5, 2015– The Beyond Batten Disease Foundation celebrated a family-fun night at Schlitterbahn in New Braunfels in September to raise funds to find treatments or a cure for juvenile Batten disease. The waterpark was closed for the private event, giving families’ access to the park’s waterslides with no lines. Attendees also enjoyed the Skycoaster, a combination skydiving, hang-gliding thrill ride where you fly over the park.

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Growing Up With a Deadline

By Maria Edible on Narratively

Published on August 10, 2015

Sammie stares out the window, where the sun is just starting to replace the rain. Around her neck: a raspberry, pig-shaped pillow. She groans faintly as her mother places a tissue between her teeth to prevent a bitten lip, then covers her nose and mouth with a clear mask that has jagged pink projections — dinosaur spikes, simultaneously innocent and stern. Her feet are pointed, toes curled. A symptom of immobility, her mother calls them “ballerina feet.” Sammie’s arms twitch slightly as a small compressor starts up, emitting a sound like a muffled lawnmower.

The dino mask administers Pulmicort, a steroid that helps loosen mucus, which accumulates due to Sammie’s lack of motion. The twice-a-day treatment raises her oxygen levels in order to facilitate breathing and minimize the chance of pneumonia.

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This Austin Mom Is Helping The Fight Against Batten Disease

By Abby Roddel on Austin.com

Published on July 24, 2015

Austin mom Charlotte Benson has a 12-year-old girl named Christiane who is facing an incredibly challenging life. There are no treatments yet for Christiane’s condition. No cure. She has juvenile Batten disease, a rare neurodegenerative brain disorder. This means that Christiane’s neuronal cells are deteriorating. Along with them, her ability to see, walk, and talk is expected to degrade. Christiane is currently losing her vision, relying more on her other senses as her world becomes increasingly blurred, and will likely suffer from seizures, personality changes and ultimately mental and physical incapacity.

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Beyond Batten Disease Foundation announces Craig Benson’s appointment to the NRI International Advisory Board

Austin, TX – July 15, 2015 – Beyond Batten Disease Foundation (BBDF) is pleased to announce Craig Benson’s appointment to the Jan and Dan Duncan Neurological Research Institute (NRI) International Advisory Board. Consistent with BBDF’s strategy and goals to connect our research with top-ranked institutions, Craig is eager to join the NRI in its mission.

The NRI at Texas Children’s Hospital aims to reduce the temporal and conceptual gap between initial gene discovery and clinical applications by providing the context, core services, and community to support interdisciplinary collaborations between physicians, scientists, and patients. Designed to advance the understanding of neurological disorders, such as Batten disease, through basic and translational research and ultimately mitigate the impact of these devastating disorders on human life, the NRI has been integral in BBDF’s success.

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Beyond Batten Disease Foundation Renowned Italian Researcher Publishes Groundbreaking Research in Top International Scientific Publication

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.

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Possible

Have you ever wondered if you are relevant, significant, or if anything you do really matters? Sometimes I get moving so fast, occupied with my daily activities, and whirling in a million directions, that I wonder at the end of the day, if any of it really mattered…….does anything I do count?

I received a card in the mail the other day from Whitney, a childhood friend, and the cover read: “Start by doing what’s necessary; then do what’s possible; and suddenly you are doing the impossible” – Francis of Assisi.

That gave me pause for reflection because certainly Craig and I know that Beyond Batten Disease Foundation was created by a “necessary” response to give hope to our child, Christiane. What came next was the “possible” with the creation of the foundation and the extraordinary contributions of our friends and community. While our destination is certainly to accomplish the” impossible,” what’s striking to me is how amplified that concept becomes when an entire community is simultaneously contributing to that phenomena.

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