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 »
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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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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 understand how the dysfunction of lysosomes leads to juvenile Batten disease and whether activation of TFEB inhibits disease.
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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.
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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.
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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
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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.
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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 their colleagues publish TFEB links autophagy to lysosomal biogenesis.
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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.
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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.
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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.
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Carrier screening article published in January generates great deal of interest

"Carrier testing for severe childhood recessive diseases by next-generation sequencing" published in January generates a great deal of interest, including peer comment articles that are published in Science Translational Medicine later in the month, and in the journal Clinical Genetics in July 2011.
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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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