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 BeyondBatten.org 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 www.beyondbatten.org to learn more about Beyond Batten Disease Foundation and get involved by donating money, volunteering your time or spreading the word.

Orphan Diseases: Calling All Volunteers

by Sharon Begley
Newsweek Magazine

No child should be born into this world with Batten Disease, which—and here I’ll just quote from the National Institutes of Health—causes “mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.” And if Mark Chandler has his way, no more will be.

Chandler is chairman and CEO of Biophysical Corp., a pioneering company that, as I wrote about two years ago, offers a battery of tests for “biomarkers” that can indicate the presence of early-stage disease before symptoms appear. (The virtue of testing for biomarkers rather than disease genes is that with the former you are testing for the presence of the actual disease, but with DNA tests you are almost always testing for the possibility of developing a disease in the future.) Now Chandler is hoping to offer tests to identify carriers of rare genetic disorders such as Batten Disease: as carriers, they would not have the disease and so would have no idea they carry silent genes for it until, tragically, their child is born with one of these 1-in-a-million disorders. A genetic test could warn them.

The model is what the Ashkenazi Jewish community has done, beginning in 1969, to screen couples for Tay-Sachs disease, which was more common among that population than Americans generally. If both a husband and wife carried the rare mutation, they were counseled to avoid having children, or (if they had not yet married) even to find other partners, since if two carriers mate their children have a 25 percent chance of having the disease. As a result of the widespread screening, Tay-Sachs has been almost eliminated in American Jewry; of the 20 or so children born with Tay-Sachs in the U.S. each year, most are from Louisiana’s Cajun community or are French-Canadians, two population groups that also carry the mutation.

It may seem like overkill to test all couples or would-be couples for diseases that are so rare, but Chandler thinks he can develop a test for the 400 or so “orphan,” diseases such as those on the list of the National Association for Rare Disorders. All are autosomal recessive: if you inherit the mutation from one parent, and therefore have one copy of the disease gene, you do not develop the disease but are a carrier; if you inherit one copy from mom and one from dad because both your parents are carriers, you get the disease. Chandler is confident that new DNA technology can offer the test for all 400 for $125. You can spend more on a maternity dress.

But before the DNA test can be offered, it needs to be validated—that is, known carriers must have their DNA tested, and the screening must correctly identify them as carriers, while not identifying non-carriers as carriers. That is, no false negatives and no false positives—or as near to “no” as one can get, which Chandler believes is 99.9 percent accurate. To validate the test for autosomal recessive orphan diseases, he figures he needs 5 to 10 couples for each disease. If you want to be one of them—volunteering to spare other children these fatal diseases—you can contact Kristin Thomas Miskovsky at kmiskovsky@biophysicalcorp.com, or call her at 512.623.4923.

http://www.blog.newsweek.com/blogs/labnotes/archive/2008/11/17/orphan-diseases-calling-all-volunteers.aspx

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