Relay Will Help Fight Batten Disease

On KTBC Fox 7

Published on April 25, 2011

The Run to the Sun Relay is a 90 mile race from Mt. Bonnell in Austin to Enchanted Rock State Park to raise money to fight Batten Disease.

Batten Disease is a neurological degenerative disorder that is hereditary.

Craig Benson, whose daughter has Batten’s Disease, joined Good Day Austin to describe what it is like to live with somebody fighting the disease.

Suzane Kho, the director of Beyond Batten Disease Foundation, also spoke with Good Day’s Keri Bellacosa.

http://www.myfoxaustin.com/clip/7223451/Relay%20Will%20Help%20Fight%20Batten%20Disease

Rare Disease Day

In honor of Rare Disease Day, the following retailers and businesses have signed on to donate a portion of their proceeds on February 26, 2011 to the Beyond Batten Disease Foundation:

In Austin, Texas:
1379 Family Sports Shop
Adelante Boutique
Austin Pilates Barn (Feb. 24 and Feb. 25 only)
Bella-Mi
bettysport
Briley’s Upholstery Shop
Corefit Training
Four Hands Furniture
Girl Next Door
Hayden Avery
Hutson Clothing Co.
Kids Cook
Mellow Johnny’s
The Menagerie
Monogram Lady
Over the Rainbow
Perri Berri
Reform Pilates
Tarrytown Nails
The Tavern (922 W. 12th St.)
Teo’s
Touch of Sass
Tracy Bethel Skincare
Valentines Too
Wendow Fine Living
Wildflower Organics

In Dallas, Texas
Chick-Fil-A at 12120 Inwood Road
Pinkberry at 5959 Royal Lane
Sammy’s BBQ

In Houston and The Woodlands, Texas:
Campioni Restaurant
Sweet Lola Yogurt Bar
Thompson + Hanson
Yvette Williams, Mary Kay Sales (Feb. 20 to Feb. 26)
www.marykay.com/ywilliams2.com or 281-686-1301

In Baton Rouge, Louisiana
By Design Interiors (on 2/25 only)
Fireside Antiques
Paper-N-Things
Red Onion
Samir Oriental Rugs
Stephen Black Ltd.
Taylor Clark Galleries (on 2/25 only)

New High-Tech Screen Takes Carrier Testing to the Next Level

by Jennifer Couzin-Frankel in Science Magazine

published January 14, 2011

In the fall of 2008, Stephen Kingsmore, a longtime gene hunter, was approached by two biotech entrepreneurs. One of them, Craig Benson, had just learned that his 5-year-old daughter had juvenile Batten disease, a rare, fatal, inherited, neurological disorder. The pair had a question for Kingsmore: Could he develop a cheap, reliable genetic test for Batten and other equally horrible diseases, available to all parents to prevent the conception or birth of affected children? Their goal was simple: Do everything possible to eradicate these diseases, because, knowing now which genes cause them, we can.

At the time this kind of screening, called carrier testing, was relatively uncommon. Both parents need to carry the same mutated gene for their child to develop a disease like Batten, and many of these recessive diseases are vanishingly rare. The number of affected children born each year can be in the single digits. Given that, it hasn’t made fiscal sense to offer tests for dozens of diseases to everyone when so few couples will be carriers of any given one. In communities in which certain mutated genes pop up more often, such as Ashkenazi Jews, carrier testing has been common for years and has drastically reduced the number of babies born with diseases like Tay-Sachs.

But DNA sequencing technology was moving fast and costs were dropping. What the two men proposed might now be doable, Kingsmore thought. He took on the project.

Two years later, Kingsmore, bioinformaticist Callum Bell, and their colleagues describe in a paper published online this week by Science Translational Medicine(http://stm.sciencemag.org/content/3/65/65ra4.full) what appears to be the broadest application of “next-generation sequencing” to a medical problem. They used technology that, in Kingsmore’s words, “sprays the genome with sequences” to look for mutations in the genes behind 448 childhood recessive diseases. The experience has been career-changing for Kingsmore: This week, he moves from the National Center for Genome Resources in Santa Fe, which conducts basic genetics research, to Children’s Mercy Hospital in Kansas City, Missouri. There, with support from the hospital and the Beyond Batten Disease Foundation formed by Benson and his wife, Charlotte, he will work to make the test clinically available, he hopes for $500, before the end of the year. The test will be sold by the foundation, which will use some of the proceeds for research into Batten disease and support for families living with it.

This carrier test is different from others now offered, including one for more than 100 diseases sold through physicians around the United States by the California company Counsyl. Those tests all hunt for previously identified genetic mutations for various diseases, working from a list that cobbles together what’s been described in the scientific literature. This captures many carriers, but not all of them. “For some diseases, the mutations on these panels may only account for 20% of mutations” that can cause disease, says Wendy Chung, who directs the clinical genetics program at Columbia University. This means that someone could be told they’re not a carrier when in fact they are.

Next-generation sequencing changes that. Instead of starting with the mutations we know about, it sequences the same DNA again and again to reduce the likelihood of error, and then researchers look for any mutation in a gene involved in one of these rare diseases. The technology is being applied, still experimentally, across medicine, for instance, to diagnose uncommon diseases and to better understand cancer. But the first broad, real-world application will likely be carrier testing of prospective parents, because the medical challenge is straightforward and the technology is nearly ready.

There are still kinks. Among the trickiest is determining whether gene variants that no one has seen before could, when paired with a mutation on the same gene from the other parent, cause disease. We all harbor gene variants that are harmless. Distinguishing those from the pathological is “going to be quite difficult,” says Lawrence Brody, chief of the genome technology branch at the National Human Genome Research Institute in Bethesda, Maryland.

Brody should know: For the past 14 years, he’s run a database of mutations in BRCA1 and BRCA2, genes involved in breast and ovarian cancer. About 10% of people tested for BRCA genes have a variant of uncertain significance. Brody and many others have been trying to determine which of these actually raise cancer risks.

When it comes to Kingsmore’s test, “how many people are going to be confident enough in discovering a new mutation that they’d be willing to terminate a pregnancy?” asks Stephen Quake, who studies biophysics and genomics at Stanford University in Palo Alto, California. Although one goal in all carrier screening is to encourage couples to screen prior to conception, that’s currently rare.

In their test, Kingsmore and colleagues screened 104 unrelated individuals; on average people carried mutations for about three of the 448 diseases. The group built computer software to analyze the DNA sequences and, among other things, determine whether they matched mutations already published. They’ve since expanded the test to cover 570 diseases and are testing it on hundreds more people.

Kingsmore admits to a catch-22 when it comes to assessing whether a new variant is a problem: The best shot at doing so comes from carrier sequencing of many, many people, just as Brody is doing with BRCA1 and –2. But this means that “initially this test will not have perfect knowledge of all diseases.” He predicts it will be about a decade before that changes, and he isn’t sure what, if anything, physicians and prospective parents should be told about variants of uncertain significance before then.

One benefit of next-generation sequencing is that it’s far more accurate than what came before it. When double-checking the mutations that showed up in Kingsmore’s small sample against published work, about a fifth of those were wrong. For example, he cites a paper published about 20 years ago on a mutation in a very rare disease, Lesch-Nyhan syndrome, which reported a massive DNA deletion. In fact, the deletion Kingsmore’s team found in one person (which was predicted, based on bioinformatics analysis, to have the biological effect described in that older paper) was just four DNA bases long. “They never intended that initial paper to be the definitive paper 20 years ago,” says Kingsmore. But as with work in so many rare diseases, studies are sparse and data often hard to come by. He and others hope that sequencing on a much bigger scale will change that, with time.

http://www.sciencemag.org/content/331/6014/130.full?sid=4d79291b-339b-42a4-82a6-5ba5c4a35e20

New Genetic Test Screens Would-Be Parents

by Nell Greenfieldboyce on NPR.org

Listen to the story on All Things Considered on NPR

published January 13, 2011

A newly developed test could screen would-be parents for hundreds of different disease genes, to make sure they are not passed on to any future children.

The test’s makers say it should cost less than $400 and that routinely offering it to prospective parents could someday eliminate many deadly childhood diseases.

“We definitely want it to be pre-pregnancy. We do want it to be couples,” says Stephen Kingsmore, a physician-researcher at Children’s Mercy Hospital in Kansas City, Mo., who led the team that developed this new test. “I think it’s going to be a personal decision, whether a couple wants to be tested.”

The inspiration for this new test came from Craig and Charlotte Benson, of Austin, Texas. In 2008, their daughter Christiane was diagnosed with Batten disease, a rare neurodegenerative disorder that currently has no cure. It progresses from vision loss to memory problems and seizures, and eventually death.

“Both her mom and I carry a gene mutation, a single gene mutation,” explains Craig Benson. He and his wife didn’t know they were carriers before they had children — indeed, they’d never heard of Batten disease.

A Test For Rare Genetic Diseases

Craig Benson works for a biotech company, so soon after his daughter was diagnosed, he and his colleagues were discussing how difficult it is for rare childhood diseases to get much attention or research that could lead to cures. They wondered about new ways of trying to prevent these diseases.

They knew that one devastating childhood disease, Tay-Sachs, has been virtually eliminated in people with Eastern European Jewish ancestry. This has been done by offering screening tests to would-be parents with that background. If both parents carry the Tay-Sachs mutation, they can take steps so that they won’t have a baby with this disease.

“We thought, you know, that’s a great idea and a great strategy. Why is that not more broadly applied?” says Benson, who noted that DNA testing technology has been advancing rapidly.

He and his colleagues approached Kingsmore, who was then at a nonprofit called the National Center for Genome Resources in Santa Fe, N.M. They asked him if it would be possible to make an affordable test that could screen all prospective parents for numerous rare genetic diseases.

This week, in the journal Science Translational Medicine,Kingsmore’s team describes that test. For less than $400, it can check a person’s DNA for all mutations in genes related to nearly 448 severe childhood diseases.

Technology Advancing Rapidly

And Kingsmore says that’s just the beginning.

“Over the next six months we’ll be taking the number up to 580 conditions,” he says, “at which point we’ll have represented just about every childhood disease that’s severe enough to merit inclusion.”

He says this test is relevant to everyone thinking of having a child, because their research shows it’s common for people to carry mutations.

“On average we found that each of us carries two or three mutations that could cause one of these severe childhood diseases,” Kingsmore says. Of course, a person would have to be unlucky enough to be having a baby with someone who just happened to be carrying a mutation for the same rare disease.

Right now, preconception genetic screening is recommended for just a few diseases — like Tay-Sachs and cystic fibrosis — in certain populations that have a higher risk.

But Laird Jackson, an expert in prenatal genetic testing at Drexel University, says the technology for widespread preconception screening is clearly already here and should advance rapidly.

“So it really does change things from thinking about its involving just a subset of the population to involving the whole population,” Jackson says. “Everybody has something to think about here, and if testing becomes available, will have something to decide about.”

A Bold Plan For Eliminating Diseases

Already, a couple of companies offer a routine preconception screening test for couples. For example, one test, sold by a company called Counsyl in Redwood City, Calif., is offered through doctors and IVF clinics. But Kingsmore says these currently available tests screen for far fewer diseases and can detect only known mutations — and he says for many rare disorders, all the mutations are not known.

This new test could become widely available soon, and Benson wants to offer it through a nonprofit he started, the Beyond Batten Disease Foundation, so that doctors could provide screening to everyone who wants it.

Benson admits that trying to eliminate rare diseases this way is a bold plan.

“I don’t know that we’ve really sat down and contemplated all of the impact that this test and this idea might have,” he says.

He just hopes it means other families won’t have his family’s experience — getting blindsided by a devastating disease that they’d never even heard of.

http://www.npr.org/2011/01/13/132908098/new-gene-test-screens-nearly-500-childhood-disease

 

Austin parents of terminally ill child behind discovery that could save many

by Mary Ann Roser in the Austin American Statesman

published January 12, 2011

An Austin couple, on a quest to find a cure for their terminally ill daughter, spearheaded a discovery of a genetic test that could one day help would-be parents discover if they are at higher risk for having a baby with a genetic disorder.

The test can’t save Christiane Benson, the 8-year-old daughter of Craig and Charlotte Benson of Austin, who has Batten Disease, a neurodegenerative disorder that leads to blindness, mental deterioration, a loss of motor skills and death typically in the teens or early 20s. But some of the money ultimately raised by the testing will be used to fund research aimed at finding a treatment or cure for Batten Disease. The rest will go toward improving the test, said Craig Benson, 48.

A paper published today in Science Translational Medicine describes the “next-generation sequencing” technology that the researchers say could help prevent parents from unwittingly passing diseases to their children. Researchers said the paper, in which they describe how they examined the entire genetic code of 104 human blood samples, also contains some surprises that could enhance understanding about disease inheritance.

The test would be able to detect some 448 devastating rare disorders.

The Bensons, below, founded the nonprofit Beyond Batten Disease Foundation in August 2008 after Christiane was diagnosed. They have raised several million dollars and dedicated more than $1.5 million toward developing the genetic test.

“What this means for Christiane … is the faster we can generate funds, the faster we can help find something that can slow or stop this disease,” Craig Benson said. “Beyond that, I would say, for Christiane, this is her legacy.”

Researchers led by the nonprofit National Center for Genome Resources in Santa Fe looked for genetic mutations in the blood samples and found, to their surprise, that the average person carries about three recessive childhood disease mutations. If each parent carries the same defective gene, they have a one in four chance of having a child with the disorder. Christiane’s brother, Garland, 6, does not have Batten Disease.

The idea of the test is for couples to be screened before having a baby. If they found out they shared the same recessive gene, they could choose to adopt or have a baby another way. The journal article carries an editor’s note that says “it may be some time” before the new test is available. The Bensons and the researchers are more optimistic; they think the test will be on the market by the third quarter of this year.

The test was better than 95 percent accurate — about as good as one can be in a laboratory setting — but it needs to be validated by thousands of samples clinically before it can be offered to the public, said Dr. Stephen Kingsmore, the senior author of the paper.

A more detailed story will appear in tomorrow’s print edition of the Statesman.

http://www.statesman.com/blogs/content/shared-gen/blogs/austin/health/entries/2011/01/12/austin_parents_of_terminally_i.html

New test can detect more than 500 genetic diseases

by Joseph Hall on healthzone.ca

When his daughter was five, Craig Benson noticed she was inching nearer the television set, bringing her books closer to her face.

Benson thought little Christiane might simply need glasses.

But whirlwind months of tests and medical specialists would find her worsening vision was due to something much more than myopia.

A most rare and catastrophic thing.

“A pediatric ophthalmologist in Houston . . . said ‘Well we’ve done a lot of tests. There’s one more thing we probably ought to test for just to rule it out; it’s probably the worst-case scenario,’ ” says Benson, the CEO of a Texas-based biotechnology company.

“And that’s the first time I’d heard the name Batten Disease.”

The disease, which attacks the eyesight before going after movement centres in the brain, also causes seizures and affects about 3 in every 100,000 children in Canada and the U.S.

Unknown to either, Benson and his wife Charlotte both carried a recessive gene for the ailment which, when passed on to their daughter, would doom her to death in her teens.

In the wake of Christiane’s 2008 diagnosis, Benson set up the Beyond Batten Disease Foundation to seek a treatment or cure for the ailment.

But he did something more. Through the foundation, he commissioned research to seek a diagnostic screen that would ensure future parents did not get blindsided by the lurking genes for hundreds of genetic disorders they could pass on to their children.

Wednesday, that test was unveiled.

And in one fell swoop, it holds out the possibility that many of the most devastating childhood genetic diseases could be largely eradicated in a generation.

The new and inexpensive screening test, presented in the journal Science Translational Medicine, can detect a couple’s risk of passing on some 580 congenital ailments to their offspring. The single test, which will be in trial use this fall, scans a prospective parent’s genome for rare “recessive” disease genes that can lurk benignly in their DNA and can show if they share the imperiling genes with their partner.

“We wanted to have a test at the end of the day which would cost about $500 dollars and yet would survey the risk for all catastrophic childhood diseases,” says Dr. Stephen Kingsmore, the senior study author.

In creating and testing the screening device, researchers also discovered – to their shock — that we all carry an average 2.8 of these dormant disease genes.

“On average you or I or anybody in a North American population has two to three catastrophic disease mutations in their genome,” Kingsmore says. “If you are starting to have a family, this is the type of information you might want to know.”

Known as carriers, parents with recessive genes for diseases like cystic fibrosis, dwarfism or sickle cell anemia do not suffer from the associated ailment. But they risk passing it off to their children if their partner also has the mutant gene.

Each of us carries two copies of almost all of our genes, one each from our mother and father. In the case of genetic illnesses, both recessive genes need to be present before the disease or condition will develop.

Parents with the same recessive disease genes run a one in four risk of passing the ailment off to their children.

“You might want to know whether or not your partner or your spouse shares risk for any of the same diseases that you do,” says Kingsmore. “And if that was indeed the case you’d be well advised to get genetic counselling before you got pregnant.”

Testing of the technology will begin at Kansas City’s Children’s Mercy Hospital over the coming months and a working prototype should be set for clinical trials by the fall, says Kingsmore, director of the facility’s pediatric genome centre.

It should be available for similar trials in this country soon after.

In the past 25 years, more than 1,100 disease-causing genes have been identified. While the new screen now captures the most common ones, more are being added all the time, Kingsmore says.

The device works by focusing on segments of DNA where the recessive genes are known to exist, and reproducing those specific snippets thousands of times over. It then sends those amplified DNA segments through a high-powered sequencer to determine whether the genes are present in their healthy or mutated forms.

“These technologies are immensely powerful and they are reducing the cost of genome analysis thousands of fold,” says Kingsmore. “What we’ve done in this paper is to apply that technology for the first time to something which would be a routine doctor’s test.”

He estimates the cost of a single screen, which would use computer analysis to create an easily interpretable report, would be around $500.

Currently, in Canada only a few genetic illnesses are commonly screened for in couples prior to conception, and even then, only for specific high-risk populations. These include cystic fibrosis in northern European populations and Tay-Sachs disease in Ashkenazi Jewish populations.

In the case of Tay-Sachs, parental screening over the last 40 years has reduced the occurrence of the lethal neurological ailment by 90 per cent.

“That’s been fabulously successful; we’ve seen Tay-Sachs disease almost be eradicated . . . because they did (the screening) before marriage to see if indeed you were both carriers,” Kingsmore says.

The Tay-Sachs success, Kingsmore argues, shows that routine screening for all the inherited diseases that his technology will allow would lead to similar reductions in the other ailments. As well, he says the low cost for a test that captures a whole spectrum of ailments would make the screens affordable to health-care systems for population screening.

“Each of the disorders in and of itself is rare, but when you multiply that by 600 diseases or so, it becomes cost-effective,” he says. “That’s why it hasn’t been done before; the cost of testing for just one disease up until now has been hundreds or thousands of dollars.”

Though rare, with some affecting less than one in a million children, the genetic diseases together account for 20 per cent of all infant deaths and about 10 per cent of pediatric hospital admissions.

Kingsmore says parents who find they have common disease genes could receive genetic counselling about the nature of the ailment and the chances their children will inherit it.

Benson says adoption or in vitro fertilization options could help parents circumvent the risk.

If they decide to have children, regardless, prenatal genetic screening could determine if the fetus will develop the condition. This pre-birth diagnosis can lead to early medical treatments for the many diseases that have existing therapies, Kingsmore says.

But it also raises the spectre of selective abortion for many conditions — like forms of dwarfism and deafness — that are not lethal or largely treatable.

Unlike Tay-Sachs, which is invariably debilitating and lethal, many genetic disorders have a wide severity spectrum, says Dr. Jeff Nisker, a medical ethicist and professor of obstetrics and gynecology at the University of Western Ontario.

So any use of such an all-encompassing test must be accompanied by a genetic counselling mechanism to explain to parents what those variable outcomes might be for any given ailment, he says.

Nisker also says the test would require a broad discussion amongst Canadians about the types of conditions that can be legally screened for.

Kingsmore says the screen can also be used to diagnose genetic diseases in children like Christiane Benson.

“We can shorten that horrible window when parents are going from . . . specialist to specialist not knowing what’s wrong with their child and feeling totally helpless,” he says.

Benson, whose foundation spent about $1.5 million to fund the screen’s development, says that any profits from its use will be poured back into the fight against Batten Disease and other genetic ailments.

http://www.healthzone.ca/health/newsfeatures/research/article/920592–new-test-can-detect-more-than-500-genetic-diseases

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.

Thank you to our sponsors who went Above and Beyond

A special THANK YOU to all the sponsors of Above and Beyond: An Evening of Hope, October 24, 2010.

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