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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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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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

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

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. 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. 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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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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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

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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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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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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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. 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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