Following from its highly successful inaugural meeting at the Hotel Galvez in Galveston, Texas, in 2011, this second meeting of the Gordon Research Conference (GRC) on Lysosomal Disease will take place at the Renaissance Tuscany Il Ciocco Resort in Lucca (Barga), Italy in April, 2013. The Lysosomal Disease GRC is one of the newest of over 170 annual conferences organized by the GRC, an organization known world-wide for its high-quality, cutting-edge academic conferences. The Lysosomal Disease GRC evolved from the longstanding and highly successful Lysosomes and Endocytosis GRC, which for many years has focused principally on the burgeoning field of intracellular trafficking and endocytic mechanisms, rather than lysosomal function/disease. Yet Lysosomal Disease represents a group of more than 50 disorders caused by inherited defects in a wide spectrum of proteins, many of which remain poorly understood. These disorders affect many organ systems, most notably brain, leading to chronic illness and death of affected individuals. The Lysosomal Disease GRC offers a critical venue for addressing the major challenges involving lysosomal diseases, including the need for better understanding of (1) pathogenic mechanisms underlying the dysfunction of neurons and brain, as well as other cell types/organs/systems, (2) specific functions of non-enzymatic, enigmatic proteins (NPC1 and NPC2, CLN3, TRPML1, others) causing some of the most difficult to treat lysosomal disorders and (3) the relationship between specific lysosomal diseases and other chronic neurodegenerative conditions (e.g., Niemann-Pick type C and Alzheimer's, Gaucher and Parkinson's, and so forth). Additionally there is the challenge to develop (4) new and innovative therapies for these disorders coupled with (5) appropriate biomarker identification and validation, with this followed by (6) effective clinical trial development. To address these important topics we have invited 41 leading and internationally known scientists and clinicians working in the field of lysosomal disease to join with approximately another 160 attendees, fully one-third of whom we anticipate will be junior investigators, postdoctoral fellows and graduate students who are at the early stages of their careers. Importantly, the success of the 2011 meeting led to the GRC Organization selecting the Lysosomal Disease meeting as a host for a Gordon Research Seminar (GRS), a special meeting organized and run by graduate students and early postdoctoral fellows. The presence of the GRS insures that the best and the brightest of the next generation of lysosomal disease researchers will be part of the GRC as well. The discussion and cross fertilization of ideas and approaches occurring as part of the GRC and GRS meetings we believe will accelerate not only our understanding of the role of the lysosomal system in health and in disease, but also move us closer to effective therapies for many of these disorders.
Lysosomal diseases, while individually rare, together exhibit an incidence of 1:5000 to 7000 live births, making them as a group one of the more common families of genetic disorders. Most of the 50 known lysosomal diseases affect the brain, causing years of disability, and are fatal. Few treatments exist, particularly for brain disease. There is n urgent need to better understand these disorders, their links to other neurodegenerative diseases, and to develop effective therapies.