2nd Annual “Run to the Sun” Overnight Relay Expanded to Accommodate More Runners

Austin, TX — March 28, 2012

Beyond Batten Disease Foundation today announced expansion of its “Run to the Sun” overnight relay due to popularity of the oversold 2011 inaugural event and strong registration so far for this year’s April 28-29 run. Event organizers are planning for up to 35 teams with as many as 350 runners in 2012 compared with last year’s total of 25 teams and 250 runners.

Also this year, the foundation is reversing the 95-mile course through the beautiful Texas Hill Country. Last year, the relay started atop Austin’s scenic Mount Bonnell and finished at Enchanted Rock State Natural Area near Fredericksburg. This year, runners will begin at Enchanted Rock on the afternoon of Saturday, April 28, and finish on Sunday, April 29 at the Austin Museum of Art’s Laguna Gloria, with a 6:00-9:00 a.m. breakfast celebration featuring live music by The Gospel Stars.

Based in Austin, Beyond Batten Disease Foundation is developing a treatment and cure for Batten disease as well as a test to screen for the condition along with hundreds of other serious, genetic, childhood illnesses. Batten disease is a rare and fatal inherited, neurodegenerative disorder that strikes young children. The condition initially causes vision loss and seizures, then progressively impairs cognitive and motor capacities, and ultimately results in death during the late teen years or early 20s. The relay run will help raise awareness of Batten disease and funding for the organization’s lifesaving work.

“Run to the Sun is a spectacular event in its own right, sure to be a highlight of the year for participating runners, but it’s also a way to help change the world – by raising funds for research to eradicate Batten disease and hundreds of other devastating disorders that seriously impair and even kill children,” said Lance Thompson, Run to the Sun’s creator and co-chair. “We encourage everyone to get involved – even if you’re not a runner, you can volunteer to help provide support to runners along the route, and we always welcome sponsors.”

A growing number of corporate teams have signed up for the run, including groups from Bulldog Solutions, Motorola, and Rules-Based Medicine.

Run to the Sun’s website has information on how to:

  • Join or start a team
  • Sponsor a runner
  • Volunteer to help at the start or finish or along the route
  • Become an event sponsor

Beyond Batten Disease Foundation was started in 2008 by Craig and Charlotte Benson after their then five-year-old daughter, Christiane, was diagnosed with Batten disease. Children born to parents who unknowingly each carry a gene mutation for Batten disease are at risk to inherit the condition but because Batten disease and so many other similar inherited, childhood diseases are uncommon, there is not much federal funding for research aimed at treatment and prevention.

In its three years, the foundation has developed the most comprehensive rare disease genetic test panel for detecting genetic mutations that cause Batten disease and more than 600 other devastating, rare conditions that strike and kill thousands of kids each year. In addition to being so comprehensive, the test will be easy to administer and more economically priced than the cost of an individual test for any one of the diseases on the panel. The scientific and medical communities have heralded the test as a major breakthrough and it has received extensive media and professional journal coverage around the world.

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Country Music Superstar Keith Urban Comes to Austin for Feb. 10 Gala Supporting Beyond Batten Disease Foundation

Austin, TX (PRWEB) November 02, 2011

Keith Urban – among country music’s biggest stars and a nominee for CMA’s 2011 Entertainer of the Year and Male Vocalist of the Year awards – will return to Austin for the first time in many years to perform at a Feb. 10 gala benefiting Beyond Batten Disease Foundation. The foundation fights Batten disease and also is working to eradicate hundreds of additional, serious and often fatal, inherited, childhood illnesses.

“Date Night with Keith Urban,” at ACL Live at The Moody Theater, will include a full concert performance by Urban, renowned for blockbuster shows, in Austin’s newest and arguably most spectacular music venue. The evening will begin with a “can’t miss” VIP pre-party attended by a who’s who list of guests from Austin, Dallas and Houston and an interactive auction featuring unique items and experiences.

The foundation is offering a variety of event sponsorship packages including some that provide a meet-and-photo opportunity with the superstar and accommodations at the hip W Hotel next to The Moody Theater (ideal for a memorable Valentine’s Day weekend getaway). Individual tickets, available exclusively through the Beyond Batten Disease Foundation website, go on sale to the public November 21.

Craig and Charlotte Benson of Austin started the foundation in 2008 after their then five-year-old daughter, Christiane, was diagnosed with Batten disease, a rare and fatal neurodegenerative disorder. Children born to parents who unknowingly each carry a gene mutation for Batten disease are at risk to inherit the condition which initially causes vision loss and seizures, then progressively impairs cognitive and motor capacities, and ultimately results in death during the late teen years or early 20s. Because Batten disease and so many other similar inherited, childhood diseases are uncommon, there is not much federal funding for research aimed at treatment and prevention.

In its three short years, the foundation has developed the most comprehensive carrier screening test panel for detecting genetic mutations that cause Batten disease and more than 600 other devastating, rare conditions that strike and kill thousands of kids each year. In addition to being so comprehensive, the test will be easy to administer and more economically priced than the cost of an individual test for any one of the diseases on the panel. The scientific and medical communities have heralded the test as a major breakthrough and it has received extensive media and professional journal coverage around the world.

Funds generated by “Date Night” will help the foundation to complete work to bring the test to market in 2012. The foundation plans to use proceeds from sales of the test to become self-sustaining for continuing Batten disease research.

“Keith Urban is one of the greatest entertainers of our day so we are ecstatic to have him join us at this exciting event,” said Shannon Janek, Event Co-Chair. “We expect his participation to boost awareness of Batten disease and the hundreds of other serious, inherited childhood diseases. He will be a huge draw, generating important financial support for the foundation and spotlighting its work, which is relevant for everyone planning to have children.”

According to foundation-funded research, on average, each person carries three genetic mutations that can cause a severe childhood disease or disorder. Carrier parents can even pass these mutations onto children who do not develop a condition. When these children mature and have kids, their children also are at risk of suffering from one of these conditions. Better-known examples of serious, inherited childhood diseases include Tay-Sachs disease, Cystic Fibrosis and Spinal Muscular Atrophy, or SMA. (One in 40 people are carriers for SMA.) A carrier screening strategy similar to the one that the foundation is developing has been used for Tay-Sachs disease and achieved an impressive 90 percent reduction in the incidence among at-risk populations.

About Keith Urban

Among today’s most celebrated country music artists, Keith Urban has been honored with Grammies and Australia’s coveted Aria Award as well as awards from the Country Music Association and the Academy of Country Music. New Zealand-born and Australia-raised, Urban moved to Nashville in 1992. His first American album came as a member of The Ranch (1997), followed by an increasingly accomplished series of multi Platinum-selling solo albums: Keith Urban (1999), Golden Road (2002), Be Here (2004), and Love, Pain & The Whole Crazy Thing (2006). The compilation Greatest Hits: 19 Kids (2008) included such No. One hits as “But For The Grace Of God,” “Somebody Like You” (named the top country song of the decade), “Who Wouldn’t Wanna Be Me,” “You’ll Think Of Me,” “Days Go By,” “Making Memories Of Us,” “Better Life,” and “You Look Good In My Shirt.” In his sixth and most recent album, Get Closer, Urban dives deeply into the exploration of love and relationships. For more information, please visit http://www.keithurban.net.

About Beyond Batten Disease Foundation

Beyond Batten Disease Foundation works to cure and prevent Batten disease, a rare, inherited neurological disorder that strikes young children, first causing vision loss and seizures, then cognitive and motor impairment, and ultimately death during the late teen years or early 20s. The foundation raises funds for research and is leading development of an easy and inexpensive, groundbreaking blood test to detect the gene mutations that cause Batten disease as well as 600-plus other rare but serious and often fatal childhood ailments. For more information, visit https://beyondbatten.org.

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BBDF Announces the Development of a Carrier Screening Test to Prevent Nearly 450 Devastating Childhood Genetic Diseases

Study Published in Science Translational Medicine Shows the Average Person Carries 2.8 Gene Mutations That May Cause Fatal Diseases in Their Children

SANTA FE, N.M. and AUSTIN, Texas, Jan. 12, 2011 /PRNewswire/ — A new universal carrier-screening test shows promise for accurately identifying a couple’s risk of conceiving a child with any one of 448 devastating and fatal childhood genetic diseases, as described in a peer-reviewed paper published today in the journal, Science Translational Medicine. Developed by the National Center for Genome Resources (NCGR) with funding provided by The Beyond Batten Disease Foundation (BBDF), the test is expected to become commercially available in the third quarter of 2011, at a cost lower than any single test currently available for any single disease on the panel.

“This represents an important milestone in reducing the number of children and families affected by these devastating illnesses,” said Dr. Stephen F. Kingsmore, Chief Science Officer of the National Center for Genome Resources in Santa Fe, New Mexico. “This is a practical example of recent improvements in the cost/benefit ratio of genome analysis. Advances in gene sequencing will continue to provide new tests and tools for medical professionals, in this case, to reduce the prevalence of severe childhood illness. In this study of more than 100 subjects, the test identified mutations from known carriers with a sensitivity and specificity of greater than 95 percent and also resulted in the discovery of previously uncharacterized mutations that likely cause disease.”

As reported in the Science Translational Medicine article, each person has an average of 2.8 mutations that could be transferred to their offspring and cause one of these fatal diseases. The screening test will provide prospective parents with the ability to identify and understand the risk that they may have for conceiving a child with one of the 448 inherited illnesses included in the screening test. Severe genetic childhood diseases are individually uncommon but together they account for roughly 20 percent of all infant deaths and 10 percent of all pediatric hospitalizations. This screening test has the potential to significantly diminish and, in some cases, eliminate the occurrence of many fatal illnesses in children. A similar carrier screening strategy was used to combat Tay-Sachs Disease (TSD) and resulted in a 90 percent reduction in TSD incidence among the target population. Until now, technology and cost were the primary barriers to expanded use of the same technique on a broader universe of genetic illnesses.

The test represents a cornerstone goal of the BBDF: to prevent Batten Disease and other genetic diseases by providing a low-cost, genetic test to screen couples prior to pregnancy for the disease-causing mutations. Craig Benson, Founding Director of the BBDF said, “This test will screen for nearly 450 diseases and will cost less than any single test currently available for any one of these illnesses. We hope that the use of this test will prevent other families from experiencing the pain and suffering caused by devastating diseases like Batten. The Beyond Batten Disease Foundation is completely funded by individual donors that share our vision and goal to eliminate these illnesses.” A portion of the test’s proceeds will be used by the BBDF to help fund research for a treatment or cure for Batten Disease and provide a sustainable source of revenue to achieve this goal.

The carrier-screening test is expected to become commercially available in the third quarter of 2011.

The National Center for Genome Resources

Located in Santa Fe, New Mexico, the National Center for Genome Resources (NCGR) is a private, non-profit life sciences research institute. The NCGR mission is to improve human health and nutrition by genome sequencing and analysis. NCGR objectives are improved diagnosis, control and cure of disease, and better nutrition. www.ncgr.org

The Beyond Batten Disease Foundation:

The Beyond Batten Disease Foundation is a 501(c)(3) nonprofit organization based in Austin, Texas. The BBDF was founded by Craig and Charlotte Benson of Austin, Texas in August 2008 after their then five-year-old daughter, Christiane, was diagnosed with Batten Disease, a fatal neurodegenerative disorder for which there is no treatment or cure. The mission of the Foundation is to eradicate Batten Disease and hundreds of other rare conditions like it through research and prevention. Craig Benson is President and CEO of Rules-Based Medicine, Inc. a global leader in biomarker testing for pharmaceutical, biotech and research applications. For more information, please visit www.beyondbatten.org.

HOPE on the Green Charity Golf Tournament

Will Herndon

Dear Friends,

I would like to introduce you to our son, Will. He is an outgoing, green-eyed, 7-year old kindergartener who loves to smile and greets everyone with a hug.  He plays soccer, swims and adores his two little brothers. He loves to give “Eskimo kisses, “and say his prayers.   He collects Build-a-Bears, hunts for “waterhorse eggs” at the Beach and loves to watch the zebras at the zoo.  His future was bright, his goals limitless until a life-changing day in June, 2009:  The day our son was diagnosed with a fatal, rare, genetic neurological-degenerative disorder called Juvenile Batten Disease.  It was unimaginable to comprehend that a horrible disease we had never heard of, was planning to ruin my son’s childhood by stealing his vision, mind, mobility and ultimately, his life.

Juvenile Batten is a fatal, inherited disorder of the nervous system affecting 2 to 4 of every 100,000 births in the U.S.  Early symptoms of this disorder usually appear between the ages of 5 and 10, when a previously normal child begins to develop vision problems or seizures. Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of vision and motor skills. Eventually, they become blind, bedridden, and physically and mentally incapacitated, requiring 24-hour care. Batten disease is fatal, often by the late teens or early twenties. Over the past year, Will has gone legally blind, suffers short-term memory loss, occasional stuttering and extreme anxiety.  With no current treatments or cure, this is our Will’s prognosis, and at the moment it is grim.  We are in a literal race against time.

But, there is HOPE.  Our family has partnered with the Beyond Batten Disease Foundation.  Beyond Batten was started in August of 2008 by the Benson Family of Austin, TX who also have an affected daughter, similar in age and symptoms to Will. The foundation is currently funding a group of Italian researchers at Texas Children’s Hospital who are working on a developing a potential treatment for Batten disease.   Together, we will work to accomplish our shared mission:

TO ERADICATE JUVENILE BATTEN DISEASE.

HOPE has been the theme of our journey, which began with our first major, local fundraiser “HOPE Under the Stars” for the Will Herndon Fund for Juvenile Batten Research and the Beyond Batten Disease Foundation that took place in November, 2009. At this event, we were able to share Will’s story and our mission to more than 600 guests and raise nearly $220,000 for research.  Our hope is to continue this momentum with the 2nd Annual Brake Specialists Plus “HOPE on the Green” Charity Golf Tournament and Dinner to take place on Thursday, September 16, 2010 at Grey Rock Golf Club in Austin, Texas.

Monies raised will be donated to fund researchers working to find a treatment and/or cure for Juvenile Batten disease right now.  With no current treatment or cure, our HOPE rests heavily with the privately funded researchers dedicated to fight this disease.    The more researchers dedicated to this rare disease, the higher the chance of a development within our children’s lifetime.  Our goal is to save Will and the hundreds like him.  Failure is not an option; our son’s life depends on it.

On behalf of our family, thank you for your interest, prayers and continued support of The Beyond Batten Disease Foundation.

Kindest regards,

Wayne and Missy Herndon

For more information regarding the 2nd Annual Brake Specialists Plus HOPE on the Green Charity Golf Tournament click here.

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, visitwww.texaschildrens.org.

http://www.vision2010.texaschildrens.org/newsroom_articles/nri_dr_ballabio_joins_093009.html

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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