Lysosomal diseases are under-recognized conditions, often leading to significant diagnostic delays that place undue burden on families. Improvements in biochemical and genetic technologies continue to further the technology available in the field and have contributed to the advancement of techniques such as newborn screening and DNA analysis. However, even as the technical tools and diagnostic implements have improved, the investment in, and improved knowledge of, those individuals who diagnose childhood disease has tended to lag behind. The result is that while interest in?and ability to treat?lysosomal conditions has improved dramatically over the past two decades, the path to diagnosis has not become significantly altered. Further, the fostering of those with an inherent interest in lysosomal conditions?and rare diseases in general?can get lost in the practicalities of medical training. In order to support the educational goals of those with an interest in lysosomal disease, the Lysosomal Disease Network has implement two major educational/training activities. The first of these is a commitment to provide fellowships for two qualified (postdoctoral level) individuals each year. These Lysosomal Disease Network Fellows will be provided a stipend that allows them to pursue a clinical research project in the field. In addition to the execution of a project vetted by the Training/Education Unit PI, these fellows will also be expected to attend WORLD Symposium Lysosomes 101, the biennial Clinical Conference on Rare Disease Research, and other educational events as appropriate. They will present the outcomes of their research at these conferences. The second major component of the Network Training Unit is the annual WORLD Symposium. The Symposium provides travel grants to young investigators interested in lysosomal conditions. The Training/Education Unit is led by Dr. Patterson who will assist Drs. Whitley and Cloyd.
In order to foster an interest in lysosomal diseases, the Lysosomal Disease Network intends to educate and advise those who have an interest in working with patients diagnosed with one of these conditions. Because lysosomal diseases affect just about every major organ system in the body, people with varied medical specialties will find working in this field interesting. Our goal is to provide qualified mentors who can train others and provide the infrastructure necessary to pursue a career in this field.
Showing the most recent 10 out of 118 publications
