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

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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.

BBDF is founded by Charlotte and Craig Benson

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Charlotte and Craig Benson established Beyond Batten Disease Foundation in August 2008 after their then five-year-old daughter, Christiane, was diagnosed with juvenile Batten disease.
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Foundation researchers Drs. Sardiello and Ballabio publish discovery of TFEB in top ranking scientific journal

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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 »

The foundation hires Danielle M Kerkovich, PhD

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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.

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

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BBDF co-funds the National Center for Genome Resources

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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.

BBDF supports the Cell Biology of the Neuron Gordon Research Conference

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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.

Dr. Sardiello presents at Gordon Research Conference

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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.

Drs. Bell and Kingsmore introduce the BBDF-initiated rare disease genetic test in Science

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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.

Craig Benson is interviewed on NPR

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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 »

Beyond Batten Disease Foundation-funded investigators give invited talks at the very first “Lysosomal Diseases” Gordon Research Conference.

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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.

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

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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.

BBDF contracts Morphosys AG to develop an antibody for CLN3 protein that is defective in Batten patients

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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, formerly known as Morphosys AG, 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.

The foundation successfully applies for CLN3 protein to be included in federally-funded program to determine 3D structure of membrane proteins

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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.

Drs. Settembre and Ballabio publish TFEB article in Science

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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.

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

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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.

Drs. Kingsmore and Saunders publish article on the future and functionality of genome sequencing in Science Translational Medicine

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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.

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

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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.

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

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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.

The foundation delivers a grant to University of Iowa doctoral student Mark Schultz to conduct drug screenings for JNCL

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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.”

Dr. Settembre presents at the European Molecular Biology Organization in Austria

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Carmine Settembre, PhD, presents "TFEB links Autophagy to Lysosomal Biogenesis" at the European Molecular Biology Organization on Sept. 10-13 in Austria.

BBDF researchers collaborate to publish article in highly downloaded scientific journal, Developmental Cell

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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.

Dr. Palmieri publishes article on newly discovered lysosome proteins in Human Molecular Genetics

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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.

Dr. Ballabio presents at workshop in Italy

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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

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Carmine Settembre, PhD, publishes "TFEB regulates autophagy: an integrated coordination of cellular degradation and recycling processes" in the November issue of the journal Autophagy.

Clinical trial for carrier screening test completed

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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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Drs. Sardiello and Segatori receive a grant award to collaborate on new methods to treat JNCL

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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.”

Dr. Palmieri presents at the Society for Neuroscience annual meeting in Washington, D.C.

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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.

Dr. Kingsmore publishes an article about the need for quick and affordable diagnostic testing in rare disease in Expert Reviews in Molecular Diagnostics

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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.

Drs. Lantos, Artman and Kingsmore discuss their Next Generation Sequencing-based test in Journal of Pediatrics article

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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.”

The DNA sequencing carrier screen developed by Beyond Batten Disease Foundation and the National Center for Genome Research, published in Science Translational Medicine.

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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.

Beyond Batten Disease Foundation provides a postdoctoral fellowship to Texas Children’s Hospital

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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.

Carmine Settembre, PhD publishes, “A lysosome-to-nucleus signaling mechanism senses and regulates the lysosome via mTOR and TFEB”

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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. The EMBO Journal has a 31 year strong international reputation for quality and originality.

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

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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.

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

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$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.” 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.

$75,000 grant from the March of Dimes Birth Defects Foundation is granted to Andrea Ballabio, MD

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$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.

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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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.

American Academy of Neurology announces creation of fellowship in JNCL

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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.

Drs. Lieberman, Puertollano, Raben, Slaugenhaupt, Walkley and Ballabio publish “Autophagy in lysosomal storage disorders

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Drs. Lieberman, Puertollano, Raben, Slaugenhaupt, Walkley and Ballabio publish “Autophagy in lysosomal storage disorders in this month’s issue of Autophagy.

Beyond Batten Disease Foundation, designs a state-of-the-art scientific merit review process

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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.

Beyond Batten Disease Foundation releases “Beyond the Valley of Death: a strategic path toward a cure for Batten disease”

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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.

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

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$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.

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

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$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.

Telethon Institute of Genetics and Medicine (TIGEM) is awarded $22 million from Shire Pharmaceuticals

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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.

Beyond Batten Disease Foundation funds 2nd predoctoral fellowship award to Mark Schultz

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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).

Beyond Batten Disease Foundation co-funds the 10th National NCL Congress in Hamburg, Germany

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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.

Beyond Batten Disease Foundation, together with Batten Disease Support and Research Association (BDSRA) co-funds University of Iowa researcher Colleen Stein

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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, PhD, to pursue research on whether the restoration of CLN3 protein to cells lining the ventricles of the brain inhibits disease.

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

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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, 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.

Beyond Batten Disease Foundation conducts the scientific merit review of proposals submitted to The Saoirse Foundation

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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.

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.”

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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.” 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.

Time Magazine calls the development of rapid genome sequencing one of the top 10 medical breakthroughs of 2012.

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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.

BBDF and BDSRA along with 20 other nonprofits announce grants totaling almost $1 million

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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.

BBDF, the Alzheimer's Drug Discovery Foundation and the National Mutiple Sclerosis Society announce funding collaboration to support CCSI

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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.

Beyond Batten Disease Foundation awards a postdoctoral fellowship to Matthew Micsenyi

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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.

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

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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. 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.

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)

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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) 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.

Drs. Settembre, Fraldi, Medina and Ballabio publish their discovery.

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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.

Micsenyi, PhD, of Albert Einstein College of Medicine published a featured article and corresponding cover illustration in the Journal of Neuroscience.

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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. 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.

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

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Beyond Batten Disease Foundation-funded investigators publish, “TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop” In Nature Cell Biology.

BBDF, together with Bright Focus, supports the expansion of ADDF ACCESS

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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.

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

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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.

Additional funding of Dr Micsenyi’s work from Orphazyme ApS

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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 his work from Orphazyme ApS.

BBDF, together with Biomarin, BDSRA and Noah's Hope supports expansion of the European Commission-funded project DEM Child

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DEM-CHILD is a patient registry and natural history program across the United States, Brazil, Argentina, Turkey, France, Norway, Denmark, Germany, Great Britain, Finland, Italy and India. This program will gather and document important patient information necessary for research, treatment and trial development.

Drs. Settembre and Ballabio publish a review of the importance of lysosome, cellular recycling centers that function poorly in juvenile Batten disease.

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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. 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.

Laura Segatori, PhD, together with Marco Sardiello, PhD, and others demonstrate that 2-Hydroxypropyl-?-cyclodextrin administration promotes TFEB activation

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More work is needed. However, this publication lays the groundwork for FDA approved 2-Hydroxypropyl-?-cyclodextrin to be used as a treatment for JNCL.

BBDF-funded results published in PLOS One

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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.

BBDF-funded investigators Andrea Ballabio, MD PhD, and Carmine Settembre, PhD, publish a review of lysosome biology

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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.

Danielle Kerkovich, PhD, Principal Scientist of Beyond Batten, is an invited speaker and panelist at BIO headquarters in Washington DC.

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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.

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

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One of the largest grants in juvenile Batten disease will 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.

Creation of stem cells for juvenile Batten disease research

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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. 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.

Drs. Settembre and Ballabio review the state of the science in lysosome research

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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, the subcellular organelle damaged in juvenile Batten disease.

Principal Scientist of Beyond Batten Disease Foundation invited to present at ExL Pharma Rare Disease Collaboration Summit

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Danielle M. Kerkovich, Ph.D., Principal Scientist of Beyond Batten Disease Foundation, is invited to present BBDF’s funding strategy at ExL Pharma Rare Disease Collaboration Summit. The purpose of the talk and Summit itself, is to share expertise between nonprofit research organizations, pharmaceutical industry experts and others and others needed to create infrastructure, build lasting partnerships, design clinical trials, and speed timelines to cured for rare disease.

Beyond Batten Disease Foundation partners with NCL-Stiftung (Foundation) of Germany.

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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, Neurological Research Institute at Texas Children’s Hospital and Baylor College of Medicine, Houston.

BBDF co-sponsors the 14th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease) & Patient Organization meeting

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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.

Evotec AG joins Beyond Batten Disease Foundation in the fight against juvenile Batten disease

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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 named

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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.

Beyond Batten Disease Foundation hosts workshop at World Trade Center

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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.

BBDF and NYAS release a new podcast: “Curing Human Diseases: Targeting the Lysosome”

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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.

BBDF and Brain Canada announce new partnership

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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.

BBDF is announced as one of 15 awardees

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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).

Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB

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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.

Beyond Batten Disease Foundation delivers a grant to Cardiff University

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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).

BBDF delivers a grant to Massachusetts General Hospital and Harvard Medical School

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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.

Craig Benson appointed to International Advisory Board

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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.

BBDF-contracted with Evotec™ for $2.2 million to put discoveries through their paces.

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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.

Beyond Batten Disease Foundation and American Academy of Neurology fellowship leads to published results

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Joseph Glyksys, MD, PhD, recipient of the American Academy of Nuerology/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.

BBDF co-sponsors the 13th annual National NCL Congress Monday, November 2, 2015 in Hamburg, Germany.

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This year’s focus is on imaging techniques and calcium regulation in juvenile Batten disease.

TFEB at a glance.

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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.

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease.

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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.

Transcription Factor EB Controls Metabolic Flexibility during Exercise.

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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.

TFEB-mediated increase in peripheral lysosomes regulates store-operated calcium entry

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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. This is one of the many published discoveries resulting from gift.

mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases

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

Dr. Sardiello Discusses Batten disease and his Lab's Research

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BBDF has partnered with Texas Children’s Hospital (TCH) to provide informational videos on the work being done at the Jan and Dan Duncan Neurological Research Institute (NRI) in Houston, TX. In this video, Dr. Marco Sardiello dives into BBDF-funded research and the discovery of TFEB and its effects on lysosomal storage diseases, including Batten.

AKT modulates the autophagy-lysosome pathway via TFEB

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AKT modulates the autophagy-lysosome pathway via TFEB” BBDF-funded investigators review their work establishing that transcription factor EB (TFEB) is a master regulator of the autophagy-lysosome pathway and acknowledge proof-of-concept studies showing that exogenous expression of TFEB can counteract the progression of lysosomal storage diseases.

BBDF Engages Camargo Pharmaceutical Services for Pre-IND Strategy

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Beyond Batten Disease Foundation announces that we have completed proof-of-concept Batten animal model, pharmacokinetic (PK), and pharmacodynamic (PD) studies for BBDF-101, a novel combination product designed to induce brain cell clearance and reduce harmful chronic inflammation of the brain.

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

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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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Batten Families Gather at TCH for Research Update

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ContentFor the first time in foundation history, affected families from all over the world gathered at the ...
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FDA Meeting Update

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In May BBDF had its first meeting with the FDA to get input and direction on our plan for clinical ...
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BBDF Engages Camargo Pharmaceutical Services for $1.6 Million

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Beyond Batten Disease Foundation announces we have engaged Camargo Pharmaceutical Services, LLC (“Camargo”) for $1.6 million for regulatory consulting and strategic development of the 505(b)(2) regulatory pathway for the development of BBDF-101 for the treatment of juvenile Batten (CLN3) disease.
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To date, funding from Beyond Batten Disease Foundation has resulted in 19 publications cited over 2,000 times

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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 19 publications cited over 2,000 times as the basis for- or in support of additional investigations into juvenile Batten and other diseases in laboratories around the world.

BBDF 101 - Next Steps to Clinical Trials

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In July, BBDF sponsored the Batten Disease Support and Research Association Family Conference where ...
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CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesisTitle

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ContentOrganelle biogenesis requires proper transport of proteins from their site of synthesis to their target subcellular compartment1,2,3. Lysosomal enzymes are synthesized in the endoplasmic reticulum (ER) and traffic through the Golgi complex before being transferred to the endolysosomal system4,5,6, but how they are transferred from the ER to the Golgi is unknown.

Researchers solve mystery surrounding form of Batten disease

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Researchers from the Jan and Dan Duncan Neurological Research Institute at the Texas Children’s Hospital and Baylor College of Medicine have discovered...

RARE Webinar: An Educational Webinar for the Batten Disease Community

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BBDF participated in an informational webinar hosted by Global Genes. Mary Beth Kiser, BBDF President and CEO, was among several panelists, including representatives from Amicus Therapeutics, Nationwide Children’s Hospital, and Batten Disease Support and Research Association (BDSRA), providing updated information on Batten disease research and family resources.

Beyond Batten Funded Research Professor Awarded

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Congratulations to Marco Sardiello, Ph.D. Assistant Professor Molecular &Human Genetics Departme...

Danielle Kerkovich is Recognized

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BBDF's principal scientist, Danielle Kerkovich, recieves recognition for her paper as one of the most read in Molecular Genetics & Genomic Medicine.
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The FDA has awarded Orphan Drug and Rare Pediatric Disease designations to Beyond Batten Disease Foundation for BBDF-101

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The FDA has awarded Orphan Drug and Rare Pediatric Disease designations to Beyond Batten Disease Foundation for BBDF-101.

Manuscript accepted by the journal

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"NEUROPHARMA: Evaluating and modulating TFEB in the control of autophagy: towards new treatments in CNS disorders" manuscript by da Costa, Anaelle; Metais, Thibaud; Mouthon, Franck; Kerkovich, Danielle; Charvériat, Mathieu, was successfully accepted by the journal "Fundamental & Clinical Pharmacology".
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BBDF and Theranexus collaborate to publish journal

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BBDF and Theranexus collaborate to publish “Evaluating and modulating TFEB in the control of autophagy: toward new treatments in CNS disorders”in the journal Fundamental & Clinical Pharmacology

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