BBDF Awards largest research grant to study Juvenile Batten Disease

The Beyond Batten Disease Foundation awards the largest research grant ever made to study juvenile Batten Disease:

A recent $2.5 million gift to the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital has paved the way for noted Italian researcher Andrea Ballabio, M.D., to serve as visiting scientist at the institute for a year. Ballabio and his team conduct research into neurodegenerative disorders and lysosomal storage disorders, such as Batten disease.

The gift comes from Cherie and James C. Flores, who donated $2 million to the effort, and from the Beyond Batten Disease Foundation, which contributed $500,000. The foundation was established by Charlotte and Craig Benson, whose daughter, Christiane, was diagnosed with juvenile Batten disease in 2008.

Batten disease is a rare genetic disorder that attacks the nervous system. It was first documented nearly one hundred years ago, but research has been limited until now. There is no treatment and no cure. The earliest signs are subtle and often do not occur until a child is about 5 years old.

“It is heartbreaking to think that this disease will one day rob Christiane of her ability to see and walk and use her mind. And, eventually, it will take her from us, unless we act now,” Benson said.

“We have to believe that there’s an answer, and we are confident that there is hope for the future in terms of developing treatments for Batten disease,” he continued. “Texas Children’s Hospital is uniquely positioned to make progress against genetic disorders like Batten disease through facilitating collaborative research and recruiting world-renowned scientists like Dr. Ballabio and his associates.”

Ballabio has served on the molecular and human genetics faculty of Baylor College of Medicine. Currently, he is the scientific director of the Telethon Institute of Genetics and Medicine in Naples, Italy. He and his team recently discovered the gene that controls the body’s ability to degrade and recycle toxic molecules. The build-up of these molecules is the cause of numerous genetic disorders, including Batten disease, along with other neurodegenerative disorders such as Alzheimer’s, Parkinson’s and Huntington’s diseases.

“We have identified a ‘master’ gene that acts as a genetic switch,” Ballabio said. “By enhancing the function of this master gene, we can increase the clearance capacity of the cell and its ability to degrade toxic proteins. We believe this knowledge will help us develop better treatments and, ultimately, find a way to prevent these diseases.”

Phase one of Ballabio’s research at Texas Children’s began in July and is focused on the development of animal models for Batten disease and other disorders. Phase II, beginning next summer under the leadership of Ballabio’s research associate, Marco Sardiello, Ph.D., will investigate which drugs are able to promote activation of the master gene.

View Article Here. 

Renowned Italian Researcher Dr. Andrea Ballabio Joins Texas Children’s Hospital Neurological Research Institute As Visiting Scientist in Medical Genetics

published September 30, 2009

Team to Focus New Gene Discovery on Developing a Therapy for Batten Disease

Dr. Andrea Ballabio, scientific director of the Telethon Institute of Genetics and Medicine (TIGEM) in Naples, Italy, has joined the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital and Baylor College of Medicine as a visiting scientist for one year. During that time, Dr. Ballabio’s research project will be based on his discovery of a gene that controls the ability of the cell to degrade and recycle toxic molecules, which was recently published in the journal Science. In particular, his team will focus on testing the application of his discovery for the therapy of Juvenile Neuronal Ceroid Lipofuscinoses, also known as Batten disease, a rare and fatal genetic disorder of the nervous system that begins in childhood.

A $2.5 million gift from the Beyond Batten Disease Foundation and Cherie and Jim Flores enabled the Jan and Dan Duncan Neurological Research Institute to invite Dr. Ballabio and his colleague, Dr. Marco Sardiello, to collaborate on this research specific to Batten disease. The gift is the largest single research award ever made in this disease area. The mission of the Beyond Batten Disease Foundation is to increase awareness and raise research funds for both finding a cure and developing a universal carrier screening test for hundreds of devastating genetic diseases.

“It is a wonderful gift to have Dr. Ballabio working with our team,” said Dr. Huda Zoghbi, director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital. “He is a distinguished scientist whose research epitomizes the mission of this institute.”

Dr. Ballabio, who was previously on the faculty at Baylor College of Medicine in the Department of Molecular and Human Genetics, focuses his studies on the biological mechanisms underlying genetic diseases, using both traditional and genomic approaches, and the development of innovative therapeutic approaches.

In addition to his work with the TIGEM, Dr. Ballabio currently holds the position of professor in medical genetics at the University of Naples Federico II.

“I am very excited to return to Baylor and contribute to the world class research activities at the Jan and Dan Duncan Neurological Research Institute,” said Dr. Ballabio. “This year will give me the opportunity to perform collaborative research projects with outstanding Baylor investigators and to start joint international research and training programs between Baylor, Texas Children’s Hospital, the Neurological Research Institute and TIGEM.”

Previously, Dr. Ballabio was president of the European Society of Human Genetics and is a member of several professional organizations including the European Molecular Biology Organization. He has published over 230 papers in prestigious, international scientific journals and has received numerous national and international awards for research and culture including the European Society of Human Genetics Award and the Silver Medal of the President of Italy. Dr. Ballabio is also the founder and director of the Biology for Medicine Foundation.

About the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital Recognizing there was no single institution using multidisciplinary research to guide the study of pediatric cognitive development and neurological disorders, Texas Children’s Hospital created the Jan and Dan Duncan Neurological Research Institute. Scheduled to open in 2010, the institute will be the first dedicated facility to use a multidisciplinary research approach to rapidly accelerate the search for treatments for pediatric neurological disorders. The specially-designed facility will be the crossroads where more than 170 researchers (over 15 principal investigators and their teams) across disciplines collaborate to bring promising new therapies to those afflicted with neurological diseases.

About Texas Children’s Hospital
Texas Children’s Hospital is committed to a community of healthy children by providing the finest pediatric patient care, education and research. Renowned worldwide for its expertise and breakthrough developments in clinical care and research, Texas Children’s is ranked in the top ten best children’s hospitals by U.S.News & World Report. Texas Children’s also operates the nation’s largest primary pediatric care network, with over 40 offices throughout the greater Houston community. Texas Children’s has embarked on a $1.5 billion expansion, Vision 2010, which includes a neurological research institute, a comprehensive obstetrics facility focusing on high-risk births and a community hospital in suburban West Houston. For more information on Texas Children’s Hospital,

Called to Action

Kristin Armstrong from Runners World writes about running for a purpose.

published May 8, 2009

“…Paige ran the same race wearing a T-shirt emblazoned with on behalf of some friends who have a 6- year-old daughter with Batten disease. This rare, incurable disease causes children to lose their eyesight, their minds, and eventually their lives before their teenage years. What can you possibly say to comfort parents who are living with the knowledge that they are losing their child? When words are insuffcient, people who run make an offering of miles.”

Click here to read the full article.

Beyond Batten Disease Foundation Forms to Find Cure for Rare Children’s Disease

Test in Development to Prevent Hundreds of Other Orphan Diseases

Austin, Texas – March 4, 2009 – Leading scientists, medical researchers and affected families joined together today to launch Beyond Batten Disease Foundation, an organization committed to finding a cure for this rare disease that claims the lives of children. The organization is also developing a single, inexpensive blood test to detect the gene mutations for Batten disease and hundreds of other so-called “orphan” diseases.

Beyond Batten Disease Foundation announced its plans at a ceremony with Texas Gov. Rick Perry in conjunction with Rare Disease Day, an annual event that occurs on February 28. Gov. Perry proclaimed February 28 Batten and Rare Disease Day in Texas, urging all Texans to learn more about the special challenges affecting these patients, take advantage of emerging diagnostic tools, and do all they can to combat these afflictions.

“Batten is a tragic disease that robs children of their youth, and eventually, their lives,” said Gov. Perry. “I greatly admire the strength and courage of the families who have united to find a cure. I am pleased that the state of Texas will be the center for an exciting and extensive scientific initiative to someday eradicate this and other rare diseases.”

Craig and Charlotte Benson of Austin, Texas, formed Beyond Batten Disease Foundation after learning that their five-year-old daughter, Christiane, has the disease. After months of testing and inconclusive results, they learned that Batten disease is an inherited, neurodegenerative disorder that affects several hundred children in the United States. Without warning, children with this disease suffer from vision loss and seizures, ultimately impairing the child’s cognitive and motor skills. Today, there is no known treatment or cure for the fatal disease.

“I’ll never forget that day. In a single moment, a disease we had never heard of changed our entire life,” said Charlotte Benson. “As a parent, it’s difficult to imagine a worse fate for your little girl than Batten disease.”

The Foundation plans to accomplish its mission of eradicating Batten disease in two ways: first, by raising awareness and money to accelerate research to find a cure; and second, by preventing Batten disease and hundreds of other rare genetic conditions through the development of a carrier screening test.

“Research is currently underway at prominent institutions in the U.S. and abroad, but because Batten disease is so rare, it is severely underfunded,” said Suzanne Kho, executive director of the foundation. “For many families, this is truly a race against time. Science provides hope for a cure, but we need to raise additional funds for multi-year research programs and clinical trials in order to turn hope into reality.”

The Foundation assembled a board of directors that includes Mark B. Chandler, Ph.D., and Kyle L. Janek, M.D., both of whom have deep experience in the scientific and medical research communities. Faced by the challenges of raising awareness and funding for such a rare disease, they quickly realized an opportunity to broaden their initiative on additional rare diseases.

“For a child to be born with an auntosomal recessive disease, of which Batten disease is one of hundreds, both parents must carry the gene mutation. Because these diseases are so rare, and testing is currently so expensive, few doctors talk to their patients about testing for these gene mutations,” said Chandler, a founding director of Beyond Batten Disease Foundation. “We are working to develop one easy and inexpensive blood test to detect the gene mutations for hundreds of rare diseases. The science is possible today. We just need the support of volunteers and financial donors to make it happen.”

“Another devastating genetic disease of children, called Tay-Sachs, has largely been eradicated through carrier screening. We want to follow that model,” said Craig Benson. “There are hundreds of these conditions that, individually, are very rare. However, when taken as a group they are much more commonplace. It is the Foundation’s goal to make the test a standard of care for all young men and women as part of their routine health screening.”

The Foundation has formed a partnership with the National Center for Genome Resources (NCGR), one of the world’s top genetic screening laboratories, to develop the test. The initial test for approximately 75 diseases will be ready in the fall of 2009.

Please visit to learn more about Beyond Batten Disease Foundation and get involved by donating money, volunteering your time or spreading the word.

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