BBDF Funded Research Featured in Nature Communications

BBDF is very proud of the research we have funded over the last 8 years.  We are especially honored to have worked with Drs. Marco Sardiello, Michela  Palmieri and their colleagues at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital.  These researchers are devoted to helping patients with Batten disease and are vital partners in our efforts.  We are delighted that their work was published in Nature Communications this week.  Nature Communications is ranked in the top .04% of 28,000 subject journals. Read  the article:

The paper is important to the understanding of how healthy cells manage waste disposal, but also because it proves an important concept for treating juvenile Batten disease in mouse models, propelling us forward down the drug discovery pipeline.  Today, BBDF is building on this discovery by working on industrial validation and dosing studies with Evotec, a drug discovery alliance and partnership company, to quickly advance Dr. Sardiello’s findings through the regulatory process, and ultimately to clinical trials.

Dr. Sardiello and his team have made a significant discovery and taken a giant step toward our collective goal to treat Batten disease.  We are grateful to him and his team for their dedication and perseverance.  In response to congratulatory emails, Marco had this message for BBDF donors, “We are proud to be working with you! This could only happen because of your continuous support.  More news coming in the next few months… stay tuned!”

To read more:

Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital press release:

Baylor’s press release:

Battling Batten Disease: Baton Rouge Parent’s Magazine

Published November 30, 2016

By Madeline Rathle

Christiane Benson, 14, loves snow skiing, walking her dogs, and riding horses. However, her greatest passion is impacting others by radiating positivity and hope despite being diagnosed with Batten Disease at the age of five. Batten Disease is an extremely rare neurodegenerative condition that affects children and causes seizures, blindness, and mental and physical incapacity.

Finding Simplicity In Life

Craig and Charlotte, Christiane’s parents, noticed something was off when she was learning to read, Christiane would bring the book close to her face. After seeing an eye doctor, they saw a genetic specialist and neurologist who diagnosed her with Batten Disease. “It took our breath away,” says Charlotte. “When you get news like that, the shock of it really numbs you.”

Craig says, “A big part of our response was our faith. We just dropped to our knees.” The Bensons knew they needed to do something. “The condition is usually fatal by the late teens or early 20s, so it created a real sense of urgency and a race against time,” says Craig. Unexpectedly, the Benson’s communities of family and friends turned out to be the answer to their prayers.


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

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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5th annual ‘Run to the Sun’ helps girl with rare disease

By Quita Culpepper on KVUE

Published on April 10, 2015

AUSTIN – A run will be held this weekend to help benefit a girl with a rare disease.

The Beyond Batten Disease Foundation was founded by Craig and Charlotte Benson to find a cure for Batten disease and prevent hundreds of similar rare genetic diseases that claim the lives of thousands of children every year.

When Christiane was born, the Bensons made it their mission to fill her life with love.

“She’s still daddy’s little girl,” Craig said.

When Christiane turned five, her parents noticed she was having trouble reading and thought she needed glasses. Instead doctors gave them heartbreaking news.

“We ultimately got the unfortunate diagnosis of Batten disease,” Charlotte said.

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Taking Taylor’s story to Texas

By Josh Whitener in The South Charlotte Weekly

Published on March 9, 2015

Laura King Edwards can now add the Lone Star State to the growing list of locations where she’s run to raise awareness of rare diseases – and to honor her 16-year-old sister, Taylor.

Edwards, an avid runner, set a goal last year to run a race in all 50 states to support the search for a cure for rare diseases through raising funds and awareness for rare disease organizations – including Taylor’s Tale, a nonprofit the Edwards’s family founded in her sister’s name.

Taylor was diagnosed with Batten disease in 2006. The rare, fatal childhood disorder is categorized as one of the neuronal ceroid lipofuscinoses, or NCLs, which occur in an estimated 2 to 4 out of every 100,000 live births in the U.S., according to the National Institute of Neurological Disorders and Stroke.

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Woodlands family builds support to battle genetic disease

By Lindsay Peyton in The Woodlands Community Extra of The Houston Chronicle

Published on February 25, 2015

Will Herndon celebrated his birthday this month. For most families, this would be a joyous occasion, but the Herndons are in a race against time.

The 12-year old resident of The Woodlands is battling Juvenile Batten Disease, a fatal, genetic disorder of the nervous system.

“Birthdays are very difficult,” Will’s mother Missy Herndon said. “The years go by too fast.”

The symptoms of the disease start with vision and memory loss or seizures and progressively worsen over time until affected children become bedridden and blind, suffering from a form of dementia.

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The Mission to Save Will Herndon

By Tish Williams in Houston Lifestyles & Homes

Published November 1, 2014

The Community Has Contributed $3 Million to Find a Cure for Juvenile Batten Disease

When Missy Herndon received the call with her son’s test results, the genetic counselor cried over the phone. That’s when it hit her that something was really wrong.

Will was a normal kindergartener. When he held papers closer to his face, Missy and her husband Wayne thought he might need glasses. Then he forgot his alphabet and had to relearn it starting from “A,” but kids do silly things. When a second visit to the eye doctor returned a referral for genetic testing, they began to have some doubts. Still, the Herndons looked to a diagnosis for clarity, the first step to fixing the problem and getting Will back on track.

“I remember the day. The kids were at WoW Science Camp when my phone rang. Picking it up, I was quite confident they had found nothing. I thought, ‘I have this active 5-year-old.’ The genetic counselor started crying on the phone,” Missy says. “I just knew it was horrible.”

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NYSCF Research Institute announces largest-ever stem cell repository


Published on October 22, 2014

The New York Stem Cell Foundation (NYSCF) Research Institute, through the launch of its repository in 2015, will provide for the first time the largest-ever number of stem cell lines available to the scientific research community. Initially, over 600 induced pluripotent stem (iPS) cell lines and 1,000 cultured fibroblasts from over 1,000 unique human subjects will be made available, with an increasing number available in the first year. To collect these samples, NYSCF set up a rigorous human subjects system that protects patients and allows for the safe and anonymous collection of samples from people interested in participating in research.

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