- Ceroid lipofuscinosis neuronal 8
- CLN8 disease, EPMR (subtype)
- CLN8 disease, late infantile (subtype)
- Neuronal ceroid lipofuscinosis 8
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ORDR Co-Sponsored Conferences
2014 Mechanisms of Epilepsy and Neuronal Synchronization Gordon Research Conference, Sunday, August 17, 2014 - Friday, August 22, 2014
Location: Mount Snow Resort, West Dover, VT
Description: <p>The main goal of the study of epilepsy is to identify the causes and complex mechanisms that underlie the abnormal, synchronous, electrical discharges that occur in hyperexcitable neuronal networks during seizures. How these basic science findings can someday be translated into new therapies for the nearly 3 million Americans suffering with epilepsy is another long-term goal. A unique, intellectually challenging aspect of epilepsy research arises from the fact that it encompasses virtually all major levels of biological organization, from circuits and behavior to stem cells and neurodevelopment. Thus a major purpose of this Gordon Research Conference is to bring together geneticists, molecular biologists, developmental neuroscientists, neuroanatomists, electrophysiologists, clinician-scientists and computational neuroscientists working on basic mechanisms related either directly or indirectly to seizure generation to synthesize current advances and to set the stage for future discoveries.</p>
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.