Neuronal ceroid lipofuscinosis 3
- Juvenile neuronal ceroid lipofuscinosis
- Vogt Spielmeyer disease
- Spielmeyer Sjogren disease
- CLN3 disease, juvenile
News & Events
Batten Disease May Benefit From Gene Therapy
November 13, 2015
ORDR Co-Sponsored Conferences
2016 Rare Disease Day at NIH, Monday, February 29, 2016
Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.
Gordon Research Conference and Gordon Research Seminar on Lysosomes and Endocytosis, Sunday, June 15, 2014 - Friday, June 20, 2014
Location: Proctor Academy, Andover, NH
Description: <p>The main goal of the Lysosomes and Endocytosis GRC is to foster the dissemination of current research results and the establishment of new research areas and new collaborations in the area of the cell biology of endocytosis, lysosomes, endosomes and related organelles. We hope that many of these new directions and collaborations will be directed toward the etiology, diagnosis and treatment of rare genetic diseases such as lysosomal storage disorders, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Niemann Pick disease and tuberous sclerosis, among others.</p>
Outcome Measures and Infrastructure for Phase III Studies in Batten Disease, JNCL, Saturday, September 22, 2012 - Monday, September 24, 2012
Location: Hyatt Regency, Atlanta, GA
Description: The main objective of the meeting is to bring together clinical research experts in JNCL to focus, for the first time, on establishing common ground for outcomes and infrastructure in support of Phase III Clinical Trials. Towards this end, it is anticipated that at the end of the meeting the participants will be able to identify potential clinical trial endpoints for Juvenile Neuronal Ceroid Lipofuscinosis (JNCL, CLN3 disease, Batten Disease); build upon the infrastructure for an International Patient Registry for JNCL and other NCL diseases, and provide opportunities for junior investigators pursuing research in JNCL to learn about and participate in the clinical research development process.
Gene Transfer and Rare Diseases Workshop, Thursday, September 13, 2012
Location: Rockville Hilton, Rockville, Maryland
Description: The NIH Office of Biotechnology Activities and Office of Rare Disease Research, NCATS, are co-sponsoring a workshop to discuss the advances in and challenges of gene transfer for rare diseases. There have been recent promising clinical successes in gene transfer protocols for rare diseases, such as retinal degeneration, hemophilia, and immune disorders. Investigators will discuss their results to date and opportunities and challenges for extending these successes to other similar rare diseases. The panel discussions will focus on strategies for maximizing opportunities for data sharing or platform development.
13th International NCL Congress, Wednesday, March 28, 2012 - Saturday, March 31, 2012
Location: London, England
Description: The conference will focus on therapeutic approaches for NCLs for which the genes and mutations have been identified and how it relates to intracellular protein trafficking, neuropathology, critical analysis and use of animal and cellular models and how to optimize these resources for therapeutic strategies, use of proteomics and system biology in understanding normal function of NCL genes, and avenues for molecular therapy, particularly on drug, gene and stem-cell based therapies.
Third Genome Dynamics in the Neurosciences Conference, Sunday, July 18, 2010 - Thursday, July 22, 2010
Location: The Hilton Metropole, Brighton, England
Description: The goal of this meeting was to integrate basic processes of DNA damage signaling and repair and clinical aspects of neurological and neurodegenerative disease. The program was designed to bring together leading scientists with primary interests in DNA damage signaling with those working in specific related neurodegenerative disease areas as a means for integrating these fields. It was anticipated that this would generate insights into how normal processes of genome maintenance in the brain contribute to the prevention of a wide range of diseases.