User:Thewritewoman/Lysosomal Disease Network

Lysosomal Disease Network. The Lysosomal Disease Network is a consortium of numerous primary and affiliated medical research institutions which cooperate in researching, developing, experimentally testing and implementing innovative diagnostic and treatment approaches for the group of inherited metabolic diseases which are categorized by dysfunction of the lysosome. These targeted diseases include, but are not limited to, the lysosomal diseases listed below. Note that for any given disease shown below, not all possible disease-name synonyms are shown.

History
The Lysosomal Disease Network was established on May 12, 2004 in Minneapolis, Minnesota by an ad hoc group of leading lysosomal disease researchers and physicians from medical institutions across North America. Their mission was to promote and facilitate collaborative research, early diagnosis, effective treatment and prevention of lysosomal diseases. They sought to develop a broad network of research investigators, treating physicians, patient advocacy groups, patients and families, and relevant industry-partners to facilitate, promote, and execute basic research, translational research, and clinical research in lysosomal diseases. The Lysosomal Disease Network that they founded eventually became a widely-dispersed North American network of primary and affiliated institutional centers having expertise in one or more of these rare diseases (see Table 2 below). Such focused expertise makes the best use of limited resources in order to solve major challenges in diagnosis, disease management, and therapy. The principal investigator and program director of the Lysosomal Disease Network is Chester B. Whitley, a metabolic disease physician, professor and researcher at the University of Minnesota Medical School. Whitley has served in this role continuously since the 2004 founding of the Lysosomal Disease Network.

On October 5, 2009 the National Institutes of Health's Office of Rare Disease Research, the National Institute of Neurological Disorders and Stroke (NINDS), and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) funded 19 consortia, including the Lysosomal Disease Network, dedicated to prevention, diagnosis and treatment of the 'orphan diseases.'  Drugs developed to treat orphan diseases are called 'orphan drugs.'  The U.S. National Institutes of Health (NIH) financially supports rare disease research and development. Without such financial support there would be little or no innovative new approaches developed for prevention, diagnosis or treatment of these devastating diseases.

Interested smaller organizations also financially support rare disease research and development efforts, including patient-advocacy groups. Each patient-advocacy group typically focuses their efforts upon a specific subset of these inherited diseases. Numerous lysosomal disease patient advocacy groups are members of the Lysosomal Disease Network, including those shown below:

Patient advocacy groups collaborate by providing financial support to specific Lysosomal Disease Network research studies, and by spreading the word about ongoing research studies and clinical trials. Additionally, several pharmaceutical companies have chosen to work closely with some members of the Rare Disease Clinical Research Network consortia, including projects within the Lysosomal Disease Network, by contributing financial support to the research, development, testing and implementation of innovative new approaches to some of these rare diseases. Pharmaceutical companies which have worked closely with the Lysosomal Disease Network include: Genzyme, Sanofi, Pfizer, Protalix, Shire HGT, Actelion, and Amicus Therapeutics.

Effectiveness
The fact that the Lysosomal Disease Network consists of geographically-dispersed participating primary and affiliated institutions is the key to its effectiveness. Since each of these diseases is rare in the general population, for any given disease, no single institution serves a large number of these patients. These small numbers of patients mean that the full spectrum of any given disease will not be seen at any single institution. In this context, 'spectrum' means the full range of possible disease signs and symptoms, or the full range of possible disease expression, which might be observed in any given individual patient's condition. Additionally, the small patient numbers at any single institution prevent that single institution from adequately testing any new therapies. For any particular lysosomal disease research study, the participating Lysosomal Disease Network institutions conduct their research in close cooperation with one another, almost as if they were one single institution. This approach maximizes the number of available research subjects for each researched disease, greatly increasing the scope and validity of the new knowledge gained through these multi-site research studies. This is the beauty of the concept behind the 19 consortia recognized and funded by the NIH's Office of Rare Disease Research, NINDS and NIDDK.

Ongoing Activities
The Lysosomal Disease Network currently has eighteen research studies at some stage of execution, whether still actively enrolling research subjects and collecting data, or conducting data-compilation and analysis, or actively preparing the presentation of results. Additionally, the Lysosomal Disease Network annually co-organizes (along with NIH's Office of Rare Disease Research, NINDS and NIDDK) and hosts an international lysosomal diseases research meeting entitled WORLD Symposium. One day prior to the convening of the WORLD Symposium, the Lysosomal Disease Network annually presents an accredited graduate-course-level educational program entitled 'Lysosomes 101.'  All interested persons, including  persons affected by lysosomal disease, their families and care-givers, members of patient advocacy groups, physicians, researchers, genetic counselors and members of the pharmaceutical industry are welcome to register for and attend Lysosomes 101 and/or the WORLD Symposium.