Family starts foundation, raises money to fight Batten disease

by Andrew Ball in the Austin American Statesman

published May 8, 2011

Craig and Charlotte Benson had never heard of Batten’s disease before their then-5-year-old daughter was diagnosed with it in 2008.

But when the Austin couple learned Christiane was afflicted with the fatal illness, they threw themselves into finding a cure. In today’s column, Craig Benson writes about the nonprofit group he and his family started: the Beyond Batten Disease Foundation.

What is the Beyond Batten Disease Foundation? The foundation’s mission is to eradicate Batten disease by raising awareness of it and generating funding for research to cure and prevent this deadly illness. Batten disease is a rare, degenerative and fatal neurological disorder that children can inherit if both parents carry the genetic mutation for it. It strikes without warning, typically between ages 5 and 10. It first causes vision loss and seizures, then progressive impairment of cognitive and motor capacities, then death during the late teen years or early 20s. There currently are no treatments or a cure.

Why was the foundation started? Because Batten disease is rare (1.2 out of every 100,000 live births worldwide), there is very little federal funding for research on treatment and prevention. So we established the foundation to raise money for researchers to develop a cure and a test to screen for the genetic mutations that cause Batten disease and more than 600 other serious — and often fatal — conditions that kids can inherit. The hope with the test is to eliminate these devastating diseases in future generations. This strategy has proved successful on a small scale with Tay-Sachs disease.

What do you spend your money on? Ninety-three percent of the money we raise — a huge percentage by nonprofit sector standards — goes toward programs (versus operating costs) to accelerate the discovery of a treatment and the test that screens for genetic mutations. The foundation gave a $500,000 research grant to Texas Children’s Hospital and very generous friends of ours donated another $2 million. We’ve also invested $1.5 million with the National Center for Genome Resources to develop the carrier-screening test.

Talk about your Run to the Sun relay. The overnight relay run starts Saturday at 2:30 p.m. atop Austin’s scenic Mount Bonnell and finishes at sunrise May 15 at Enchanted Rock State Natural Area. That morning there will be a 6 to 8:30 a.m. breakfast celebration featuring live music by the Gospel Stars. About 30 teams, each with up to eight members, have registered to run the 95-mile course through the Texas Hill Country. Each team has pledged to raise a minimum of $5,000.

Is there still time to participate? Interest in Run to the Sun has been overwhelming. We’ve already exceeded our projected number of teams and runners. There’s still time to register a team, and you can make a donation or come out to cheer on the runners. Our biggest need at this point is for volunteers, so we encourage anyone who has time next weekend to contact us through the website (http://runtothesunrelay.com).

What do you see for your future? Every day is a blessing and we cherish each moment with our precious Christiane and our son, Garland. At the same time, we know that the years ahead will be challenging for her and our family. Nonetheless, we remain very hopeful as we raise money to accelerate research for developing a treatment for Batten disease and the screening test. We will find a treatment for Christiane and other affected children and ultimately eradicate Batten disease.

http://www.statesman.com/news/local/family-starts-foundation-raises-money-to-fight-batten-1461595.html

Run to the Sun

A year ago, Lance Thompson, our good friend and avid runner, came to us with an idea to organize a 100-mile overnight relay run to raise money for the foundation. Admittedly, I’m not a runner, and my first reaction was, “Who in the world is going to want to do that?!!” But as the idea evolved, and he shared his vision of a race whose course would meander under the starlit sky of the Texas countryside and culminate at a stunning destination at sunrise, I began to understand. Now, less than two weeks away, that vision will become a reality on May 14 when 30 teams of eight people each will compete by running a rugged Hill Country 96-mile course starting at Mount Bonnell and ending in the dawn light at Enchanted Rock. Members of each team will follow the route together in a van to support their runner and cheer him on as he steps onto the course alone to face his own unique challenge in the dark. Lance wanted the participants to experience first-hand the physical darkness and challenges that a child who is blinded by Batten Disease faces. It has been transformative to watch Lance’s ambitious dream become a reality and I am struck by how incredibly this race also mirrors our own life, and so perfectly mimics the mission of the Beyond Batten Disease Foundation. I love the way God inspires us only later to reveal His full intention.

Read More

Get Movin’ Monday: Beyond Batten Relay

On KTBC Fox 7

Published on May 3, 2011

Ryon Talbot of Pure Austin Fitness and Lance Thompson, a participant in the event, stopped by Good Day to talk about the Beyond Batten Relay.

Batten disease is a fatal neurodegenerative disorder that takes away childhood, then takes away the child. The Beyond Batten Foundation was established to eradicate Batten disease. They seek to accomplish this by:

  • Raising awareness and money to accelerate research and finda cure
  • Develop an easy and inexpensive blood test to detect the gene mutations for Batten’s and hundreds of other rare conditions like it.

Event details:

Run to the Sun
90-plus miles from Austin to Enchanted Rock
Relay teams of 8
Goal: to raise $125,000

http://www.myfoxaustin.com/story/18298409/get-movin-monday-beyond-batten-relay

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

 

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