June 2013: BBDF partners with orphan drug specialists to establish path to treatment

June 11, 2013
News

We are in an exciting and hopeful place in Batten disease research history. Not very long ago, scientists were unsure of the genetic cause of juvenile Batten disease, why cellular processes go awry, and, because of this, were at a loss as to how to fix the problem. Today, we can identify mistakes in DNA that cause the disease. We understand much of what goes wrong and are even able to slow the disease in our animal models! With your support and funding from Beyond Batten Disease Foundation, researchers have identified three potential compounds that may be used to treat children with juvenile Batten disease and are looking for more.

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Batten Disease Awareness Weekend 2013

May 31, 2013
News, Press Releases

Join Beyond Batten Disease Foundation June 1-2 in raising awareness and education about juvenile Batten disease

AUSTIN, Tex. May 31, 2013 – In recognition Batten Disease Awareness Weekend June 1-2, 2013, Beyond Batten Disease Foundation (BBDF) would like to invite communities everywhere to become learn more about the struggles and challenges of children affected by Batten Disease.

Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. Early symptoms of this disorder usually appear between the ages of five and 10, when parents or physicians may notice that a previously normal child has begun to develop vision problems or seizures. In some cases the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and physically and mentally incapacitated, requiring 24-hour care. Batten disease is always fatal, often by the late teens or twenties.

It is difficult to imagine a worse fate for a child, but with your support, there is hope. In August 2008, Craig and Charlotte Benson established Beyond Batten Disease Foundation after their then five-year-old daughter was diagnosed with the disease. BBDF is uniquely positioned to accelerate the pace of progress towards developing treatments, and one day, a cure, for Batten disease. Our founders and board members have extensive contacts and relationships in the scientific and medical research communities. As a result, we have made exciting progress in the five years since the foundation’s inception. We have developed an easy and inexpensive test to prevent Batten and hundreds of other rare and devastating diseases, which recognized on Time magazine’s Top Ten Medical Discoveries in 2012. We have also created a strategy for success modeled after and advised by the most successful medical research foundations and government programs which will allow us to continue to invest in research projects and strategies that are accelerating progress toward a cure.

BBDF would like to use this weekend to raise awareness and educate others about Batten disease. We encourage the Batten patient community and the public to get involved by sharing education resources, promoting awareness via social media and donating to help us continue our progress in Batten disease research. Together, we can create a brighter future for children with Batten disease.

BBDF is a 501c(3) non-profit organization dedicated to improving the lives of children with Batten Disease. For more information, visit www.beyondbatten.org or follow us on Facebook www.facebook.com/BeyondBattenDiseaseFoundation or Twitter www.twitter.com/BeyondBatten.

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Nonprofit Hosting Third Annual Overnight Relay Run to the Sun Relay – April 20-21, 2013

March 20, 2013
News, Press Releases

Beyond Batten Disease Foundation is pleased to announce its 3rd Annual Run to the Sun Relay that will take place April 20-21. Run to the Sun is an overnight, long distance relay that begins at Enchanted Rock State Park and ends at Laguna Gloria in Austin, Texas. This event has opportunities for both runners and non-runners and is sure to be a great experience for all.

25 to 30 teams of five to 10 advocates will run over 90 miles throughout the night to raise money and awareness for Batten disease. Each relay team is working together to raise $5,000 to benefit Beyond Batten Disease Foundation in their quest to accelerate research and find a cure for Batten disease. The race starts at Enchanted Rock the afternoon of Saturday, April 20th and the finish line will be a celebration breakfast with food and entertainment. Runners, volunteers and supporters will stand together at sunrise while we celebrate the strength and determination of those impacted by Batten disease.

The relay race consists of 15 legs. Relay teams will meet their runners at exchange stations at the end of each leg to “pass the baton” to the next runner. This year, for the first time, each leg of the relay race will be dedicated to a child affected by Batten disease. Teams will have the opportunity to read biographies and view photos of each child as a way to get to know the children they are running for.

For those who don’t consider themselves runners, but still wish to participate, Run to the Sun has plenty of opportunities to be involved. Over 120 volunteers are needed to help the race run smoothly. Volunteer groups are needed to run the exchange stations that will serve as a place for teams to gather and support their runners at the end of each leg. Volunteers are also needed to help with set-up and tear-down, route support and start and finish activities.

Another way to participate with Run to the Sun Relay is through a sponsorship. Run to the Sun relay is still in need of sponsors for the starting line and each of the exchange stations. In return for their generosity, sponsors receive branding and recognition on all marketing and communication collateral, on-event signage, the Run to the Sun website, media exposure and more.

Batten disease is an inherited, neurological degenerative disorder that primarily affects children. It strikes without warning, starting with vision loss and seizures, progressively impairing the child’s cognitive and motor capacities, and ultimately takes their lives. It is difficult to image a worse fate for a child, but with your leadership and support there is hope. Join us in our mission to find a cure. For many families, this is truly a race against time.

To learn more about getting involved with the race, either as a runner, volunteer, sponsor, or just to make a donation, please visit www.runtothesunrelay.com. If you have any questions, please contact Rachel Armbruster at 512-944-3417 or runtothesun@beyondbatten.org.

For more information about Batten disease and Beyond Batten Disease Foundation, please visit www.beyondbatten.org.

The Blind Vest

March 18, 2013
News, A Mother's Story

Have you ever wondered what it would be like if the whole world knew your pain? Would you feel exposed or liberated? Would you be embarrassed or relieved? Would others treat you differently? I frankly never gave it any thought until 3 weeks ago when Craig and I took the children to Colorado for their first ski trip.

We enrolled Christiane in a program called Challenge Aspen, where children with special needs are taught to ski. Her instructor, Chloe, had worked with children with all sorts of disabilities and turned out to be a perfect choice for Christiane. While Christiane is not totally blind, her vision is blurry with dark spots; she sees shapes and shadows and struggles to focus on objects up close. Chloe asked me how Christiane would feel about wearing a fluorescent vest that indicated she was visually impaired. At first I felt exposed and uncertain about drawing so much attention to Christiane, but the obvious necessity to alert other skiers that she was skiing with a visual impairment made it an easy decision. So off they went, in matching orange and green vests, with Christiane’s reading “Blind Athlete” and Chloe’s reading “Guide for the Blind.” I followed behind and watched in awe as Christiane began to trust her instructor as she was led down the slope holding on to Chloe’s pole that was extended horizontally in front of her.

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March 2013: Passion is our driver. Strategy is our compass.

March 10, 2013
News

Passion is our driver. Strategy is our compass. With your support, Beyond Batten Disease Foundation (BBDF) has developed a dynamic plan to diagnose and prevent juvenile Batten disease while at the same time investing in the most promising research to treat children and families living with the disease. Since the foundation’s inception in August 2008, we have made exciting progress. With help from donors, we have 1) developed an easy and inexpensive test to prevent Batten and hundreds of other rare and devastating diseases, and 2) invested in research projects and strategies that are accelerating progress toward a cure.

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Collaborative CNS Screening Initiative

February 28, 2013
News, Press Releases

Collaborative CNS Screening Initiative (CCSI) Aims to Share Knowledge and Speed Drug Discovery.
The Alzheimer’s Drug Discovery Foundation (ADDF), Beyond Batten Disease Foundation (BBDF) and the National Multiple Sclerosis Society today announced a funding collaboration to support the creation of the Collaborative CNS Screening Initiative (CCSI), a central repository of chemical compounds that have shown significant Central Nervous System (CNS) activity.

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Nonprofit Funders Unite to Accelerate Fight Against Batten Disease, Granting $1 Million for Research to Develop Treatment and Cure

February 28, 2013
News, Press Releases

AUSTIN, TEXAS (February, 2013) The Batten Disease Support and Research Association (BDSRA) and Beyond Batten Disease Foundation (BBDF), working together in close partnership with more than 20 other nonprofits around the world, today announced grants totaling almost $1 million for research to develop treatments and a cure for Batten disease.

Batten disease is a rare and fatal neurodegenerative disorder that strikes infants, children and adults. There is no known treatment or cure. Those born to parents who carry gene mutations for Batten disease are at risk to inherit the condition which can cause vision loss and seizures, progressively impairs cognitive and motor capacities, and ultimately results in death.

Funding for research has been challenging due to the rare nature of the disease. The 2013 grants represent the largest Batten disease research collaboration to date. The new grants will support nine high-value projects at universities and institutes in the United States, Great Britain, Germany, Israel and New Zealand. The goals of these projects include:

Organizations pooling their funds for the nearly $1 million in grants include BDSRA, BBDF, Hope for Bridget, Blake’s Purpose, Our Promise to Nicholas, Fight for Nicholas, Biomarin, LLC, and Noah’s Hope – all based in the United States – along with Germany’s NCL-Stiftung and the United Kingdom’s Batten Disease Family Association. Together these organizations are funding basic discovery to identify drug targets, translate those discoveries into treatment, and prepare for clinical trial success. Expanding, improving and connecting registries will result in the world’s largest, clinically and genetically best characterized set of Batten disease patients. Exploring multiple approaches to identify biomarkers capable of measuring the efficacy of potential drugs for treating Batten disease will ensure clinical trial success.

“We are so proud of the accomplishments of all the organizations and dedicated scientists involved in this unprecedented, international effort to identify and fund research for curing this devastating disease,” said Margie Frazier, PhD, executive director of the BDSRA. “This is a great example of the whole being so much greater than the sum of its parts.”

The world’s leading Batten disease nonprofit organizations are uniting to pool funds and expertise to evaluate grant proposals based on a state-of-the-art scientific merit review process that reflects the highest standards associated with the U.S. National Institutes of Health, the European Research Council and industry-standard drug discovery processes.

“We’ve crossed a major milestone in the fight against Batten disease,” said Craig Benson, founder and CEO of Beyond Batten Disease Foundation. “Through this type of global collaboration, we can take an even more strategic approach and apply both greater rigor and resources to our work, ensuring that the most important research to treat and cure this horrific illness gets funded.”

The newly funded work will be completed at University of Texas Southwestern Medical Center, Yale University, University of Iowa and University of Medicine and Dentistry in the US; Weizmann Institute of Science in Israel; King’s College London in the United Kingdom; University Medical Center Hamburg-Eppendorf in Germany; and Lincoln University in New Zealand.

Other nonprofits joining Batten Disease Support and Research Association and Beyond Batten Disease Foundation in the fight against Batten Disease include: Catherine’s Hope for a Cure, Drew’s Hope, Hayden’s Hope, Luke and Rachel Batten Foundation, Mary Payton’s Miracle Foundation, Melissa Froio Foundation, Partnering for Cures and Taylor’s Tale in the US; Jasper Against Batten in the US and Netherlands; Beat Batten! in the Netherlands; Bee for Batten’s in Ireland; ContactPuntNCL in Belgium; NCL-Gruppe Deutschland in Germany; and Norsk Spielmeyer-Vogt Forening in Norway.

About The Batten Disease Support and Research Association

The Batten Disease Support and Research Association is the major support and research organization in North America for families who have children with the disease. Founded in 1987, the association promotes and funds research nationally and internationally, provides family services and advocacy, fosters awareness and education with the scientific, medical and caregiving community, and coordinates networks for diagnosis, medical referrals, genetic testing, and counseling. The first research grant from BDSRA was awarded in 1992 and, since then, more than $6 million in funding has been awarded. BDSRA is the largest source of private funding for family support and research into the disease. For more information, visit www.bdsra.org.

About Beyond Batten Disease Foundation

Beyond Batten Disease Foundation works to cure and prevent juvenile 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 by the late teens or 20s. The foundation raises funds for research, and is leading the development of an easy, inexpensive, groundbreaking blood test to detect gene mutations that cause Batten disease as well as 600 other rare, serious and often fatal, childhood ailments. For more information, visit www.beyondbatten.org.

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Contact:
Danielle M Kerkovich, PhD
Scientific Officer | Batten Disease Support and Research Association
Principal Scientist | Beyond Batten Disease Foundation
info@beyondbatten.org
202-812-6462
www.bdsra.org
www.beyondbatten.org

Faster DNA Testing Helps Diagnose Disease in NICU Babies

January 28, 2013
News

by Alice Park on healthland.time.com

Fifty hours. That’s how long it now takes to decode and interpret a newborn baby’s genome — an undertaking that used to take weeks, or even months. And those two days can mean the difference between life and death for a critically ill infant.

In a paper published in the journal Science Translational Medicine, researchers led by Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, describe a new genetic test that can rapidly screen the DNA of babies in the neonatal intensive care unit (NICU) for about 3,500 diseases known to be linked to single-gene mutations. Of these, doctors can treat about 500.

Up to a third of babies admitted to the NICU have a genetic disease. But many newborns are not diagnosed properly and may therefore miss the opportunity for a potentially life-saving therapy. Many of the symptoms of such genetic diseases are both general and shared by many different conditions, which makes them difficult to diagnose; what’s more, many of the genetic conditions in question are rare, so most physicians, even NICU specialists, may not be familiar them or unable to recognize their symptoms. Currently used genetic tests are also too expensive and time-consuming to be clinically useful; because the tests can take weeks, or sometimes months, most NICU babies will have either gone home or died by the time the results are ready.

So Kingsmore and his colleagues collaborated with Illumina, a manufacturer of gene-sequencing machines, to shorten the time it takes to both decode an entire genome and generate a clinically useful analysis of that sequencing. Thanks to recent advances in the ability to break up and re-knit DNA, the company was able to sequence the 3 billion base pairs of the genome in just 27 hours — down from weeks.

But decoding a genome is only half of the challenge. Words in a book don’t make sense unless they are put together in a grammatically sensible way, and similarly, DNA is meaningless unless it’s analyzed in the context of genes, which in turn are connected to human functions or conditions. So for two years, Kingsmore’s team worked on special software designed to help doctors use genetic information to make accurate diagnoses and guide ill babies to the right treatment.

The software simplifies and standardizes the often complex process of diagnosis, by allowing doctors to click on the symptoms they see in newborns; the program then puts together a list of the genes that might be most likely to be at fault. Doctors can then compare these genetic suspects to the newborn’s sequenced genome to see if any of the same genes are mutated; if they are, they can pinpoint a diagnosis.

 “There is a phenomenal need for more accurate and faster diagnosis in the NICU,” says Kingsmore, adding that “this is a setting where we know that giving treatments is one of the most effective things we can do in medicine from the cost standpoint, since these patients have 65 to 70 years of life to live out.”

Of the 4 million babies born in the U.S. each year, about 1 in 20 are admitted to the NICU for potentially life-threatening reasons, and about 30% of those are for inherited genetic diseases. Accurately diagnosing these babies can help them get effective treatments that can improve their quality of life and in many cases save them from an early death.

Using the combination of the prototype Illumina sequencer and the new software, Kingsmore and his team have sequenced 15 babies’ genomes as part of their study, and have seen how powerful the screening can be. In the case of Pompe disease, for example, in which a genetic abnormality leaves babies deficient in an enzyme that breaks down glycogen (a form of sugar the body uses for energy), the genetic sequencing can pick up the mutation and alert the doctor to begin giving the baby the enzyme, which drug companies make as a therapy. The treatment can keep infants off ventilators and offset some of the heart and muscle damage that Pompe disease causes.

Newborns with Menkes disease can also benefit from the screening; their bodies cannot break down copper, so they need injections of the mineral. Without a genetic screen to confirm the deficiency, however, doctors wouldn’t know to treat them. And giving excess copper to babies who aren’t deficient can be dangerous, leading to copper poisoning, with diarrhea, convulsions and liver failure.

Timing is critical in the NICU, and Kingsmore says the ability to get an accurate diagnosis in two days can lead to dramatic improvements in survival and quality of life for many NICU babies. For now, the screening is only available on an experimental basis, as part of ongoing research, but he anticipates that such genetic testing will become ubiquitous as the price of sequencing continues to drop. Next year, he’s planning to offer the testing to other hospitals that will courier DNA samples to Children’s Mercy. “We expect better outcomes and broader benefits to follow from doing this,” he says. And hopefully many more lives saved.

http://healthland.time.com/2012/10/04/good-news-for-nicu-babies-faster-dna-testing-for-more-accurate-diagnoses/

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