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Launch of new foundation for Batten disease

September 19, 2015

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 autosomal 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.

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