When the foundation was created in 2008, there was very little known about juvenile Batten disease. With no known treatment and no cure, we had a long and uphill battle ahead of us. Thanks to your continued support and generous contributions, the foundation has made great progress towards our goal of eradicating Batten disease. Here are just a few of our proudest accomplishments.

BBDF founder Craig Benson challenges experts to create a genetic screening test

Beyond Batten Disease Foundation founder Craig Benson and his colleagues challenge National Center for Genome Resources researchers Stephen Kingsmore and Callum Bell to create a precise, inexpensive, genetic test capable of detecting or preventing hundreds of rare devastating genetic illnesses.
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Foundation researchers Drs. Sardiello and Ballabio publish discovery of TFEB in top ranking science journal, Science

Renowned researchers Drs. Marco Sardiello, Andrea Ballabio, and their colleagues at the Telethon Institute of Genetics and Medicine in Naples, Italy, published their discovery of a genetic program (TFEB) that controls the making and function of lysosomes, the recycling centers of the cell which are damaged in juvenile Batten disease, in Science, ranked in the top 1 percent of 28,000 science and technology journals. View Article » Read more

The foundation hires Danielle M Kerkovich, PhD

Beyond Batten Disease Foundation hires neurobiologist and nonprofit consultant Danielle M. Kerkovich, PhD of Brain Bleu Scientific Consulting to determine the State of the Science in juvenile Batten disease and to create a strategy from here to a cure.
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Cherie and Jim Flores and BBDF give $2.5 million gift to Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital

A $2.5 million gift to the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital from Jim and Cheri Flores and Beyond Batten Disease Foundation paved the way for renowned researchers Drs. Andrea Ballabio, Marco Sardiello and their colleagues to establish laboratories at NRI in Houston, Texas, to better understand how the dysfunction of lysosomes leads to juvenile Batten disease and whether activation of TFEB inhibits disease. “We have identified a master gene that acts as a genetic switch. By enhancing the function of this master gene, we can increase the clearance capacity of the diseased cell types and their ability to degrade toxic proteins. We believe this knowledge will help us develop better treatments and, ultimately, find a way to prevent these diseases.”
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BBDF co-funds the National Center for Genome Resources

BBDF co-funds the National Center for Genome Resources to develop a rare disease genetic test panel to prevent and diagnose JNCL and hundreds of other devastating genetic illnesses in children.
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BBDF supports the Cell Biology of the Neuron Gordon Research Conference

Beyond Batten Disease Foundation supports the Cell Biology of the Neuron Gordon Research Conference. For over 75 years, GRC's high-quality meetings have been recognized as the world's premier scientific conferences, where leading investigators from around the globe discuss their latest work. Read more

Dr. Sardiello presents at Gordon Research Conference

Marco Sardiello, PhD, presents invited talk, “Discovery of a gene network regulating lysosomal biogenesis and function” at “Lysosomes and Endocytosis” Gordon Research Conference. For over 75 years, GRC's high-quality meetings have been recognized as the world's premier scientific conferences, where leading investigators from around the globe discuss their latest work. (June 20-25, Andover, NH, Lysosomes and Endocytosis GRC; 2010. http://www.grc.org/programs.aspx?year=2010&program=lysosomes)
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Drs. Bell and Kingsmore introduce the BBDF-initiated rare disease genetic test in Science

Drs. Callum Bell and Stephen Kingsmore and colleagues introduce the BBDF-initiated rare disease genetic test in Science Translational Medicine, ranked in the top ten percent of 28,000 science and technology journals. “Carrier testing for severe childhood recessive diseases by next-generation sequencing” identifies genetic mutations that are responsible for 448 devastating childhood diseases. http://www.ncbi.nlm.nih.gov/pubmed/21228398 Read more

Craig Benson is interviewed on NPR

Craig Benson, founder of BBDF and initiator of the recently published rare disease genetic test, is interviewed on nationally syndicated NPR, a network of 900 public radio stations. Listen to the Story »
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Beyond Batten Disease Foundation-funded investigators give invited talks at the very first “Lysosomal Diseases” Gordon Research Conference.

Beyond Batten Disease Foundation-funded investigators give invited talks at the very first “Lysosomal Diseases” Gordon Research Conference. For over 75 years, GRC's high-quality meetings have been recognized as the world's premier scientific conferences, where leading investigators from around the globe discuss their latest work (January 23-28, Galveston, TX, Lysosome Diseases GRC 2011) http://www.grc.org/programs.aspx?year=2011&program=lysosomal Read more

The foundation hosts the very first Drug Discovery Conference in juvenile Batten disease.

Beyond Batten Disease Foundation hosts the very first Drug Discovery Conference in juvenile Batten disease on Feb. 9, 2011, in San Diego, California, in partnership with the Alzheimer’s Drug Discovery Foundation (ADDF), the Batten Disease Support and Research Association (BDSRA), and NCL-Stiftung.
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BBDF contracts bio-rad company to develop an antibody for CLN3 protein that is defective in Batten patients

Since the isolation of the CLN3 gene, investigators have faced significant challenges in creating antibodies against its corresponding CLN3 protein. The main problem is that many of these antibodies lack target specificity. Beyond Batten Disease Foundation is taking the lead by contracting with AbD Serotec Bio-Rad to develop an antibody to CLN3 protein that exceeds the quality of the 32 existing antibodies. AbD Serotec Bio-Rad is one of the world’s leading biotechnology companies focused completely on developing antibodies against human proteins like CLN3 protein. BBDF’s principal scientist, together with consultants and dedicated advisors, creates partnerships to engineer and distribute much-needed, high quality, research tools.
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The foundation successfully applies for CLN3 protein to be included in federally-funded program to determine 3D structure of membrane proteins

Beyond Batten Disease Foundation successfully applies for the CLN3 protein to be included in the National Institutes of Health federally-funded New York Center for Membrane Protein Structure, a program that aims to determine the three-dimensional structure of a host of membrane proteins. Determining the structure of this hallmark protein is critically important for understanding CLN3 protein’s function and, ultimately; treating juvenile Batten disease.
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Drs. Settembre and Ballabio publish TFEB article in Science

Dr. Carmine Settembre, a member of Dr. Andrea Ballabio’s laboratory at Texas Children’s Hospital, along with Dr. Ballabio, and colleagues publish “TFEB links autophagy to lysosomal biogenesis.” Since brain cells of children and young adults with juvenile Batten disease become overwhelmed by accumulated waste material, investigators believe that boosting autophagy, cellular recycling and waste removal, will inhibit disease. BBDF-funded investigators published their results demonstrating that TFEB activation boosts the creation and activity of cellular recycling centers in the premier journal Science (Settembre C, Di Malta C, Polito VA et al. TFEB links autophagy to lysosomal biogenesis. Science 2011 Jun 17;332(6036):1429-33). http://www.ncbi.nlm.nih.gov/pubmed/21617040 Read more

The foundation delivers a grant to King’s College, London

Beyond Batten Disease Foundation delivers a grant to King’s College London researchers Drs. Jonathan Cooper and Brenda Williams for their project “Finding new targets for therapy: the brain’s forgotten cells in juvenile Batten disease.” Some of these “forgotten cells” include glial cells; “helper” cells found in the brain that support and protect neurons. Glial cells that lack CLN3 protein have trouble dividing and functioning normally, and Drs. Cooper and Williams are looking into how the dysfunction of these cells affects the survival of the neurons they support.
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Drs. Kingsmore and Saunders publish article on the future and functionality of genome sequencing in Science Translational Medicine

Stephen Kingsmore, PhD, and Carol Saunders, PhD, publish Deep Sequencing of patient genomes for disease diagnosis: when will it become routine? in Science Translational Medicine.
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Drs. Kerkovich and Drew's article about the challenges of finding treatments in rare disease is ranked in top 5% of most popular articles published in Cerebrum

• On July 21, Dr. Danielle Kerkovich, Principal Scientist of Beyond Batten Disease Foundation, and Amy Drew, MSc, publish “Designing a Plan for Drug Discovery in Rare Pediatric Neurodegenerative Disease” in Cerebrum, a publication of The Dana Foundation. This article describes the challenges associated with finding treatments in rare diseases like juvenile Batten disease, and ranks among the most popular articles published in Cerebrum. Retrieved April 4, 2012, from http://www.dana.org/news/cerebrum/detail.aspx?id=33670. Read more

BBDF co-hosts a symposium in Germany for doctoral students around the world studying JNCL

Beyond Batten Disease Foundation and NCL-Stiftung host a symposium in Hamburg, Germany, that brings together doctoral students studying juvenile Batten disease from around the globe. BBDF’s support of early networking activities provides students with valuable professional connections, along with disease- and career-specific information that will improve their research and ensure they remain dedicated to studying juvenile Batten disease. As their first order of business, students are developing a database that gathers previous grant research and peer-reviewed publications in juvenile Batten disease to prevent repetition and help ensure that future research builds upon previous findings.
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The foundation delivers a grant to University of Iowa doctoral student Mark Shultz to conduct drug screenings for JNCL

Beyond Batten Disease Foundation delivers a grant to University of Iowa doctoral student Mark Schultz, MSc, for “Cellular Phenotypes and Drug Screening for juvenile Batten disease.”
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Dr. Settembre presents at the European Molecular Biology Organization in Austria

Carmine Settembre, PhD, presents "TFEB links Autophagy to Lysosomal Biogenesis" at the European Molecular Biology Organization on Sept. 10-13 in Austria.
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BBDF researchers collaborate to publish article in highly downloaded scientific journal, Developmental Cell

Diego Medina and his colleagues at the Telethon Institute of Genetics and Medicine in collaboration with foundation-funded researchers at the Neurological Research Institute at Texas Children's Hospital publish, "Transcriptional activation of lysosomal exocytosis promotes cellular clearance," in Developmental Cell, one of the most downloaded journals. http://www.ncbi.nlm.nih.gov/pubmed/21889421
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Dr. Palmieri publishes article on newly discovered lysosome proteins in Human Molecular Genetics

Michela Palmieri, MSc, publishes "Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways" in Human Molecular Genetics, ranked in the top 25 percent of all science and technology journals, on Oct. 1.
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Dr. Ballabio presents at workshop in Italy

Andrea Ballabio, PhD, presents "Transcriptional Regulation of Cellular Clearance" at the Cell Biology and Pharmacology of Mendelian Disorders Workshop in Vico Equense, Italy, on Oct. 7-11.
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Clinical trial for carrier screening test completed

Stephen Kingsmore, PhD, and colleagues at Children's Mercy Hospital in Kansas City complete a clinical trial to validate the BBDF-initiated sequencing-based carrier screen described in the Science Translational Medicine article, "Carrier testing for severe childhood recessive diseases by next generation sequencing."
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Dr. Settembre publishes TFEB article in top ranking science journal, Autophagy

Carmine Settembre, PhD, publishes "TFEB regulates autophagy: an integrated coordination of cellular degradation and recycling processes" in the November issue of the journal Autophagy.
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Drs. Sardiello and Segatori receive a grant award to collaborate on new methods to treat JNCL

Marco Sardiello, PhD, and Laura Segatori, the T.N. Law Assistant Professor of Chemical and Biomolecular Engineering of Rice University receive an Institute of Biosciences and Bioengineering Hammill and Medical Innovation Award titled, “Novel Therapeutic Strategies for Neurodegenerative Lysosomal Storage Disorders.”
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Dr. Palmieri presents at the Society for Neuroscience annual meeting in Washington, D.C.

Michela Palmieri, MS, presents "Lysosomal enhancement as a therapeutic strategy for Batten Disease" at the Society for Neuroscience annual meeting in Washington, D. C., on Nov. 12-16.
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Dr. Kingsmore publishes an article about the need for quick and affordable diagnostic testing in rare disease in Expert Reviews in Molecular Diagnostics

Stephen Kingsmore, PhD, and colleagues publish "Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing" in Expert Reviews in Molecular Diagnostics.
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Drs. Lantos, Artman and Kingsmore discuss their Next Generation Sequencing-based test in Journal of Pediatrics article

Drs. John Lantos, Michael Artman, and Stephen Kingsmore discuss their Next Generation Sequencing-based test in their Journal of Pediatrics article, “Ethical considerations associated with clinical use of next-generation sequencing in children.”
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The DNA sequencing carrier screen developed by Beyond Batten Disease Foundation and the National Center for Genome Research, published in Science in January 2011

The DNA sequencing carrier screen developed by Beyond Batten Disease Foundation and the National Center for Genome Research, published in Science in January 2011 and validated in October, is launched as an in-house diagnostic tool. The test will be released as a commercial product, with a portion of the proceeds coming back to the foundation to fund juvenile Batten disease research. The test is available to ordering clinicians as a diagnostic tool.
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Beyond Batten Disease Foundation provides a postdoctoral fellowship to Texas Children’s Hospital

Beyond Batten Disease Foundation provides a postdoctoral fellowship to Texas Children’s Hospital to conduct research in the laboratory of Marco Sardiello, PhD, at the Jan and Dan Duncan Neurological Research Institute. The proposed research includes the genetic engineering (creation) of two mouse models: one regular strain and one which has been genetically altered to mimic the symptoms and biology of juvenile Batten disease. Both models will have inducible lysosomes, meaning that these animals’ cells will have additional recycling centers that can be turned on through a genetic “switch.” These models will provide important insights into the effect extra lysosomes could have on the body and what this treatment could mean for patients with juvenile Batten disease at all stages of disease.
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Carmine Settembre, PhD publishes, “A lysosome-to-nucleus signaling mechanism senses and regulates the lysosome via mTOR and TFEB”

Carmine Settembre, PhD, of Dr. Ballabio’s laboratory at Texas Children’s Hospital and the Jan and Dan Duncan Neurological Research Institute publishes, “A lysosome-to-nucleus signaling mechanism senses and regulates the lysosome via mTOR and TFEB” In The EMBO Journal. Understanding the factors and mechanisms that control damage to the cell recycling centers in juvenile Batten disease will open up new avenues for therapeutic intervention. http://www.ncbi.nlm.nih.gov/pubmed/22343943. The EMBO Journal has a 31 year strong international reputation for quality and originality. Read more

Drs. Vincenzo Gennarino, Marco Sardiello, Sandro Banfi and colleagues publish “Identification of microRNA-regulated gene networks by expression analysis of target genes”

Drs. Vincenzo Gennarino, Marco Sardiello, Sandro Banfi and colleagues at the Telethon Institute of Genetics and Medicine in Naples, Italy, publish “Identification of microRNA-regulated gene networks by expression analysis of target genes” in this month’s issue of Genome Research, ranked in the top 10 percent of science and technology journals. Based on these findings, the authors identified novel procedures to uncover networking between and the biological roles of microRNAs. http://www.ncbi.nlm.nih.gov/pubmed/22345618 Read more

$75,000 is granted to Marco Sardiello from March of Dimes

$75,000 is granted to Marco Sardiello, PhD, of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital obtains a grant from the March of Dimes Birth Defects Foundation titled “Development of a Therapeutic Strategy for Lysosomal Neurodegenerative Disorders of Childhood.” Beyond Batten Disease funding provided the means to obtain preliminary data for the juvenile Batten disease portion of this grant. This grant provides support for the development of transgenic mice that over-express TFEB in a conditional (brain site- and time-specific) manner. These mice will then be crossed with juvenile Batten and Sanfilippo mouse models to explore the therapeutic potential of TFEB overexpression in these lysosomal storage diseases. This strategy will overcome any issues linked to timing and tissue distribution to inhibit disease. Assessing whether lysosomal enhancement is able to slow, arrest or reverse disease progression will lay the foundation for the development of human therapy.
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$75,000 grant from the March of Dimes Birth Defects Foundation is granted to Andrea Ballabio, MD

$75,000 grant from the March of Dimes Birth Defects Foundation is granted to Andrea Ballabio, MD, of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital. Beyond Batten Disease funding provided the means to obtain preliminary data for the TFEB portion of this grant.
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Together with the NCL-Stiftung, BDSRA, Batten Disease Family Association of the UK and Bee for Batten, Beyond Batten Disease Foundation co-sponsors the 13th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease) & Patient Organization meeting

Together with the NCL-Stiftung, BDSRA, Batten Disease Family Association of the UK and Bee for Batten, Beyond Batten Disease Foundation co-sponsors the 13th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease) & Patient Organization meeting.
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American Academy of Neurology announces creation of fellowship in JNCL

The American Academy of Neurology announces the creation of American Brain Foundation/Beyond Batten Disease Foundation Clinical Research Training Fellowship in Juvenile Neuronal Ceroid Lipofuscinosis.
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Drs. Lieberman, Puertollano, Raben, Slaugenhaupt, Walkley and Ballabio publish “Autophagy in lysosomal storage disorders

Drs. Lieberman, Puertollano, Raben, Slaugenhaupt, Walkley and Ballabio publish “Autophagy in lysosomal storage disorders in this month’s issue of Autophagy.
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Beyond Batten Disease Foundation, designs a state-of-the-art scientific merit review process

Beyond Batten Disease Foundation, designs 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, the Pharmaceutical Industry and forward-thinking foundations.
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Beyond Batten Disease Foundation releases “Beyond the Valley of Death: a strategic path toward a cure for Batten disease”

Beyond Batten Disease Foundation releases “Beyond the Valley of Death: a strategic path toward a cure for Batten disease” at the Batten Disease Support and Research Association’s annual family conference July 19-22, 2012, in Charlotte, N.C. Read more

$1.25 million is granted to Marco Sardiello, PhD, of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital

$1.25 million is granted to Marco Sardiello, PhD, of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital from the National Institute of Neurological Disorders and Stroke (NINDS) of the National Institutes of Health. Read more

$1.71 million is granted to Andrea Ballabio MD, of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital

$1.71 million is granted to Andrea Ballabio MD, of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital from the National Institute of Neurological Disorders and Stroke of the National Institutes of Health.
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Telethon Institute of Genetics and Medicine (TIGEM) is awarded $22 million from Shire Pharmaceuticals

Telethon Institute of Genetics and Medicine (TIGEM), a global leader in the advancement of research to prevent, diagnose and cure genetic illness, is awarded $22 million from Shire Pharmaceuticals.
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Beyond Batten Disease Foundation-funded 2011 predoctoral fellowship award to Mark Schultz

Beyond Batten Disease Foundation-funded 2011 predoctoral fellowship award to Mark Schultz at the University of Iowa titled “Cellular Phenotypes and Drug Screening for juvenile Batten disease” is successfully leveraged into a second year of funding from the Batten Disease Support and Research Association (BDSRA).
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Beyond Batten Disease Foundation co-funds the 10th National NCL Congress in Hamburg, Germany

Beyond Batten Disease Foundation co-funds the 10th National NCL Congress in Hamburg, Germany, with NCL-Stiftung. NCL-Stiftung, based in Germany, is the largest individual supporter of juvenile Batten disease predoctoral fellowships and the host of the first international juvenile Batten disease PhD Symposium and nine other national NCL-Congresses.
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Beyond Batten Disease Foundation, together with Batten Disease Support and Research Association (BDSRA) co-funds University of Iowa researcher Colleen Stein

Beyond Batten Disease Foundation, together with Batten Disease Support and Research Association (BDSRA) co-funds University of Iowa researcher Colleen Stein, PhD, to pursue research on whether the restoration of CLN3 protein to cells lining the ventricles of the brain inhibits disease.
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Beyond Batten Disease Foundation, together with Batten Disease Support and Research Association, Hope for Bridget, and Fight for Nicholas, co-funds Rutgers University researcher David Sleat

Beyond Batten Disease Foundation, together with Batten Disease Support and Research Association, Hope for Bridget, and Fight for Nicholas, co-funds Rutgers University researcher David Sleat, PhD, to identify biomarkers capable of providing measures of short-term efficacy in upcoming clinical trials by identifying secondary changes in lysosomal proteins isolated from cerebrospinal fluid.
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Beyond Batten Disease Foundation conducts the scientific merit review of proposals submitted to The Saoirse Foundation

Beyond Batten Disease Foundation conducts the scientific merit review of proposals submitted to The Saoirse Foundation, a member of the Irish Medical Research Charities group where approved projects are jointly funded with the Irish government.
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Batten Disease Family Association of the United Kingdom and NCL-Stiftung agree to fund BBDF-reviewed and approved “Cell-based systems for drug discovery in JNCL.”

Batten Disease Family Association of the United Kingdom and NCL-Stiftung agree to fund BBDF-reviewed and approved “Cell-based systems for drug discovery in JNCL.” This project, as well as the $386,000 USD project funded by Bee for Batten and the Irish Government, is made possible by the preliminary data obtained by Dr. Cooper’s BBDF-funded project in June 2011 demonstrating that glia, the forgotten cells of the brain, play a critical role in disease progression.
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Time Magazine calls the development of rapid genome sequencing one of the top 10 medical breakthroughs of 2012.

Time Magazine calls the development of rapid genome sequencing one of the top 10 medical breakthroughs of 2012. Drs. Carol Saunders, Stephen Kingsmore and their colleagues at the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital in Kansas City, MO., published the STAT-Seq 50-hour process in Science Translational Medicine in October of this year.
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BBDF and BDSRA along with 20 other nonprofits announce grants totaling almost $1 million

Beyond Batten Disease Foundation and Batten Disease Support and Research Association (BDSRA), 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.
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BBDF, the Alzheimer's Drug Discovery Foundation and the National Mutiple Sclerosis Society announce funding collaboration to support CCSI

Beyond Batten Disease Foundation, the Alzheimer’s Drug Discovery Foundation, and the National Multiple Sclerosis Society announcea 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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Beyond Batten Disease Foundation awards a postdoctoral fellowship to Matthew Micsenyi

Beyond Batten Disease Foundation awards a postdoctoral fellowship to Matthew Micsenyi, PhD of the Albert Einstein College of Medicine, New York. This fellowship explores whether lysosomes, the cell’s recycling centers, which become “leaky” during the course of disease, can be stabilized by Arimoclomol. Arimoclomol has been shown to stabilize membranes and inhibit disease progression in ALS (Lou Gehrig’s disease). BBDF funds this project together with Hope for Bridget and Contact PuntNCL of Belgium.
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Beyond Batten Disease Foundation-funded investigators give invited talks at “Lysosomal Diseases: Understanding and Treating Diseases that Involve Lysosomal Dysfunction” Gordon Research Conference in il Ciocco Italy

Beyond Batten Disease Foundation-funded investigators give invited talks at “Lysosomal Diseases: Understanding and Treating Diseases that Involve Lysosomal Dysfunction” Gordon Research Conference in il Ciocco Italy. For over 75 years, GRC's high-quality meetings have been recognized as the world's premier scientific conferences, where leading investigators from around the globe discuss their latest work.
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Carmine Spampanato, PhD, and his colleagues at the Telethon Institute of Genetics and Medicine in Naples Italy report in the EMBO Molecular Medicineon the early validation of transcription factor EB (TFEB)

Carmine Spampanato, PhD, and his colleagues at the Telethon Institute of Genetics and Medicine in Naples Italy report in the EMBO Molecular Medicineon the early validation of transcription factor EB (TFEB) as a drug target in Pompe disease. If true, the mechanism of action proposed by the investigators may also be used to treat juvenile and other forms of Batten disease. http://www.ncbi.nlm.nih.gov/pubmed/23606558
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Drs. Settembre, Fraldi, Medina and Ballabio publish their discovery.

Drs. Settembre, Fraldi, Medina and Ballabio, working at the Neurological Research Institute at Texas Children’s Hospital and the Telethon Institute of Genetics and Medicine, publish their discovery that signals from lysosomes, the cell’s waste and recycling centers, control both the clearance of accumulated waste material and balance the energy metabolism of the cell.
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Micsenyi, PhD, of Albert Einstein College of Medicine published a featured article and corresponding cover illustration in the Journal of Neuroscience.

Micsenyi, PhD, of Albert Einstein College of Medicine published a featured article and corresponding cover illustration in the Journal of Neuroscience. These findings included the preliminary data which led to Beyond Batten Disease Foundation funding of Dr. Micseny’s postdoctoral fellowship to explore Lysosome Membrane Permeability (LMP) in juvenile Batten disease. http://www.ncbi.nlm.nih.gov/pubmed/23804102
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BBDF-funded investigators, Drs. Settembre and Ballabio along with their colleagues publish, “TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop” In Nature Cell Biology

Beyond Batten Disease Foundation-funded investigators, Drs. Settembre and Ballabio along with their colleagues publish, “TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop” In Nature Cell Biology. In previous studies, investigators demonstrated that TFEB controls cellular recycling, in this publication, investigators propose a model in which TFEB is capable of inducing fast and dramatic shifts in cellular metabolism. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3699877/. Nature Cell Biology publishes research of exceptionally high quality and impact.
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BBDF, together with Bright Focus, supports the expansion of ADDF ACCESS

Beyond Batten Disease Foundation, together with Bright Focus, a foundation dedicated to the fight against brain disease and vision loss, supports the expansion of ADDF ACCESS. Created by the Alzheimer’s Drug Discovery Foundation, ADDF ACCESS provides scientists with access to a virtual network of 130 drug discovery experts and contract research organizations with experience developing therapies for neurodegenerative diseases.
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Work funded by BBDF supports the conclusion that CLN3 protein is involved in the transport of proteins to various locations in endothelial cells lining the blood brain barrier

Work funded by Beyond Batten Disease Foundation supports the conclusion that CLN3 protein is involved in the transport of proteins to various locations in endothelial cells lining the blood brain barrier, and that these defects could underlie problems with the blood-brain-barrier and disease progression.
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Beyond Batten Disease Foundation funding of Dr Micseny’s postdoctoral fellowship

Beyond Batten Disease Foundation funding of Dr Micseny’s postdoctoral fellowship to explore Lysosome Membrane Permeability (LMP) in juvenile Batten disease leads to additional funding of Dr. Micsenyi and is work from Orphazyme ApS.
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BBDF, together with Biomarin, BDSRA and Noah's Hope supports expansion of DEM-CHILD

Beyond Batten Disease Foundation, together with Biomarin Pharmaceutical, LLC, Batten Disease Support and Research Association (BDSRA), and Noah’s Hope, supports expansion of the European Commission-funded project DEM-CHILD (what do these countries mean? Germany, UK, Finland, Italy, India).
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Drs. Settembre and Ballabio publish a review of the importance of lysosome, cellular recycling centers that function poorly in juvenile Batten disease.

Drs. Settembre and Ballabio publish a review of the importance of lysosome, cellular recycling centers that function poorly in juvenile Batten disease. Here, the authors outline historical and current findings that show that the lysosome is at the center of multiple cellular pathways important for cell functioning and survival.
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Laura Segatori, PhD, together with BBDF-funded Marco Sardiello, PhD, and others demonstrate that HP?CD administration promotes TFEB

Laura Segatori, PhD, together with BBDF-funded Marco Sardiello, PhD, and others demonstrate that HP?CD administration promotes transcription factor EB (TFEB)-mediated clearance of cellular waste buildup in disease.
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Drs. Schultz, Tecedor, Stein, Stamnes and Davidson publish their BBDF-funded results in PLOS One

Drs. Schultz, Tecedor, Stein, Stamnes and Davidson publish their BBDF-funded results in PLOS One, a scientifically peer-reviewed journal in the top 20 of 28,000 science and technology journals. Their work titled “CLN3 deficient cells display defects in the ARF1-Cdc42 pathway and actin-dependent events,” demonstrates that GTPase Cdc42 misregulation could account for the multitude of cellular defects in juvenile Batten disease and suggests that Cdc42 is a plausible drug target in juvenile Batten disease. Therefore, findings from drug-targeting research done on other GTPases could be applied to GTPase Cdc42. http://www.ncbi.nlm.nih.gov/pubmed/24792215
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BBDF-funded investigators Andrea Ballabio, MD PhD, and Carmine Settembre, PhD, publish a review of lysosome biology

BBDF-funded investigators Andrea Ballabio, MD PhD, and Carmine Settembre, PhD, publish a review of lysosome biology describing its central role in sensing, signaling, and transcriptional mechanisms that respond to environmental cues, such as nutrients.
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Danielle Kerkovich, PhD, Principal Scientist of Beyond Batten, is an invited speaker and panelist at BIO headquarters in Washington DC.

Danielle Kerkovich, PhD, Principal Scientist of Beyond Batten, is an invited speaker and panelist at “BIO Briefing: The Untapped Potential of Advanced Modeling: How Animal Biotech Speeds Drug Development” June 3, 2014, 12:00—1:30 PM at BIO headquarters in Washington DC.
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Beyond Batten Disease Foundation awards a $1.75 million grant to the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital in Houston

Beyond Batten Disease Foundation awards a $1.75 million grant to the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital in Houston, Texas to explore whether the pharmacological activation of TFEB can be used to activate the lysosomal system and to promote cellular clearance in JNCL, which in turn will ameliorate disease progression.
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Beyond Batten Disease Foundation is funding the creation of the most genetically diverse, collection of induced pluripotent stem (iPS) cells in juvenile Batten disease.

Beyond Batten Disease Foundation is funding the creation of the most genetically diverse, collection of induced pluripotent stem (iPS) cells in juvenile Batten disease. IPS cells are produced by artificially “turning back the clock” of skin cells to a time when they were stem cell-like and capable of becoming any cell in the body.
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Beyond Batten Disease Foundation funded investigators, Drs. Settembre and Ballabio publish a review of the state of the science in regulation of and by lysosomes

Beyond Batten Disease Foundation funded investigators, Drs. Settembre and Ballabio publish a review of the state of the science in regulation of and by lysosomes, the subcellular organelle damaged in juvenile Batten disease.
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Dr. Kerkovich of Beyond Batten Disease Foundation presents “Extra levels of Care

Dr. Kerkovich of Beyond Batten Disease Foundation presents “Extra levels of Care: Working with Patients, Parents, Caregivers, and Review Boards on the Development of Orphan Drugs for Pediatric Indications” at ExL Pharma’s “Rare Disease Collaboration Summit.” Presentation of the foundation’s strategy and accomplishments to Pharma, biotech companies, and other foundations helps build partnerships that accelerate the timeline to achieve our collective research goals.
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Beyond Batten Disease Foundation partners with NCL-Stiftung (Foundation) of Germany to award $344,742 to the research team of Dr. Marco Sardiello

Beyond Batten Disease Foundation partners with NCL-Stiftung (Foundation) of Germany to award $344,742 to the research team of Dr. Marco Sardiello, Neurological Research Institute at Texas Children’s Hospital and Baylor College of Medicine, Houston.
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BBDF co-sponsors the 14th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease) & Patient Organisation meeting

Beyond Batten Disease Foundation together with the NCL-Stiftung, BDSRA, Batten Disease Family Association of the UK and Bee for Batten, co-sponsors the 14th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease) & Patient Organisation meeting.
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Beyond Batten Disease Foundation and Evotec AG have signed an agreement to validate emerging drug targets in juvenile Batten disease and translate promising findings across the drug discovery “Valley of Death” between fundamental discovery and applied medicine.

Beyond Batten Disease Foundation and Evotec AG have signed an agreement to validate emerging drug targets in juvenile Batten disease and translate promising findings across the drug discovery “Valley of Death” between fundamental discovery and applied medicine.
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BBDF is selected for one of 30 Innovator presentations at the sixth annual FasterCures Partnering for Cures meeting, November 17, 2014 in New York City.

Beyond Batten Disease Foundation (BBDF) is selected for one of 30 Innovator presentations at the sixth annual FasterCures Partnering for Cures meeting, November 17, 2014 in New York City. Selected through a competitive proposal process, these partnerships are aimed at reducing the time and cost of getting new medical solutions from discovery to patients.
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BBDF together with the NYAS host a “Drug Targeting the Lysosome Workshop” at the NYAS Conference Center at 7 World Trade Center.

Beyond Batten Disease Foundation, together with the New York Academy of Sciences (NYAS) host a “Drug Targeting the Lysosome Workshop” at the NYAS Conference Center at 7 World Trade Center. This unique think-tank conference gathered both academic and pharmaceutical researchers who share an interest in designing safe and effective therapies that target lysosome activity to treat a wide spectrum of human diseases including lysosomal diseases like juvenile Batten disease, adult neurodegenerative diseases such as Alzheimer’s and Parkinson’s disease and cancer. In preparation for the workshop, invited participants took part in a 3-part webinar series.
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BBDF and NYAS release a new podcast: “Curing Human Diseases: Targeting the Lysosome”

Beyond Batten Disease Foundation and the New York Academy of Sciences release a new podcast: “Curing Human Diseases: Targeting the Lysosome” in which leading scientists discuss the latest breakthroughs in lysosome biology and what they mean for treating juvenile Batten disease, and more common conditions such as Alzheimer's and Parkinson's diseases and cancer. http://www.nyas.org/Publications/Media/PodcastDetail.aspx?cid=93a6ba49-1eaf-4082-bf7d-55152802ea12.
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BBDF and Brain Canada announce a new partnership to promote large-scale, high-quality research in juvenile Batten disease across Canadian institutions.

Beyond Batten Disease Foundation and Brain Canada announce a new partnership to promote large-scale, high-quality research in juvenile Batten disease across Canadian institutions.
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Published by BBDF-funded investigators Andrea Ballabio, Diego Medina and Carmine Settembre, investigators show that lysosomal calcium signaling regulates cellular recycling processes.

Published by BBDF-funded investigators Andrea Ballabio, Diego Medina and Carmine Settembre, investigators show that lysosomal calcium signaling regulates cellular recycling processes shown to be dysfunctional in juvenile Batten disease. Until recently, juvenile Batten disease research has suffered from a lack of mechanistic findings needed for rational targeted therapies.
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BBDF is announced as one of the 15 awardees for Phase I of Genetic Alliance’s initiative to create a ‘white label’ of the PEER.

Beyond Batten Disease Foundation is announced as one of the 15 awardees for Phase I of Genetic Alliance’s initiative to create a ‘white label’ of the Platform for Engaging Everyone Responsibly (PEER).
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Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB

The view of the lysosome as the terminal end of cellular catabolic pathways has been challenged by recent studies showing a central role of this organelle in the control of cell function. Here we show that a lysosomal Ca2+ signalling mechanism controls the activities of the phosphatase calcineurin and of its substrate ?TFEB, a master transcriptional regulator of lysosomal biogenesis and autophagy. Read more

Beyond Batten Disease Foundation delivers a grant to Cardiff University

Beyond Batten Disease Foundation delivers a grant to Cardiff University (Welsh: Prifysgol Caerdydd) Cardiff, Wales, United Kingdom.to Dr. Emyr Lloyd-Evans to explore a new hypothesis that has implications for juvenile Batten (CLN3).
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BBDF delivers a grant to Massachusetts General Hospital and Harvard Medical School funding Susan Cotman

Beyond Batten Disease Foundation delivers a grant to Massachusetts General Hospital and Harvard Medical School funding Susan Cotman, PhD to determine the cellular location and function of the CLN3 protein.
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Craig Benson appointed to Jan and Dan Duncan Neurological Research Institute (NRI) International Advisory Board at TCH.

Craig Benson, co-founder of Beyond Batten Disease Foundation, is appointed to the Jan and Dan Duncan Neurological Research Institute (NRI) International Advisory Board at Texas Children’s Hospital in Houston.
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Joseph Glyksys, MD, PhD publishes, “Diazepam effect during early neonatal development correlates with neuronal Cl” in the Annals of Clinical and Translational Neurology.

Joseph Glyksys, MD, PhD, recipient of the American Brain Foundation/Beyond Batten Disease Foundation Clinical Research Training Fellowship in juvenile Batten disease publishes, “Diazepam effect during early neonatal development correlates with neuronal Cl” in the Annals of Clinical and Translational Neurology.
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BBDF-contracted with Evotec™ for $2.2 million to put discoveries through their paces.

To advance Beyond Batten Disease Foundation-funded discoveries beyond publication and into treatments, BBDF-contracted with Evotec™, a broad range target-identification to preclinical neuroscience and metabolic disease company, for $2.2 million to put discoveries through their paces.
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Diazepam effect during early neonatal development correlates with neuronal CI

Although benzodiazepines and other GABAA receptors allosteric modulators are used to treat neonatal seizures, their efficacy may derive from actions on subcortical structures.
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BBDF co-sponsors the 13th annual National NCL Congress Monday, November 2, 2015 in Hamburg, Germany.

Beyond Batten Disease Foundation co-sponsors the 13th annual National NCL Congress Monday, November 2, 2015 in Hamburg, Germany. This year’s focus is on imaging techniques and calcium regulation in juvenile Batten disease; two timely areas of investigation in our quest to learn more about the CLN3 protein and to identify biomarkers marking disease progression and eventually, response to treatment.
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To date, funding from Beyond Batten Disease Foundation has resulted in 18 publication cited 1,835 times

Over 40% of all peer-reviewed publications in 28,000 science and technology journals are never cited beyond a single publication. To date, funding from Beyond Batten Disease Foundation has resulted in 18 publication cited 1,835 times as the basis for- or in support of additional investigations into juvenile Batten and other diseases in laboratories around the world.
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TFEB at a glance.

The transcription factor EB (TFEB) plays a pivotal role in the regulation of basic cellular processes, such as lysosomal biogenesis and autophagy. The subcellular localization and activity of TFEB are regulated by mechanistic target of rapamycin (mTOR)-mediated phosphorylation, which occurs at the lysosomal surface.
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Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease.

Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the pharmaceutical industry.
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Transcription Factor EB Controls Metabolic Flexibility during Exercise.

The transcription factor EB (TFEB) is an essential component of lysosomal biogenesis and autophagy for the adaptive response to food deprivation. To address the physiological function of TFEB in skeletal muscle, we have used muscle-specific gain- and loss-of-function approaches.
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TFEB-mediated increase in peripheral lysosomes regulates store-operated calcium entry

In 2009, a $2.5 million gift from Beyond Batten Disease Foundation and Cherie and Jim Flores enabled the Jan and Dan Duncan Neurological Research Institute (NRI) to invite Drs Ballabio, Sardiello and their colleagues to the NRI at Texas Children’s Hospital.
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mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases

Neurodegenerative diseases characterized by aberrant accumulation of undigested cellular components represent unmet medical conditions for which the identification of actionable targets is urgently needed. Read more

New York Stem Cell Foundation and Beyond Batten Disease Foundation Announce the Availability of Stem Cell Lines for Research

The New York Stem Cell Foundation (NYSCF) and Beyond Batten Disease Foundation (BBDF) announce the availability of a unique and comprehensive collection of juvenile Batten (CLN3) disease induced pluripotent stem (iPS) cells.
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