The list of sciences that make extensive use of computer simulations has grown over the years to include astrophysics, particle physics, materials science, engineering, climate science, evolutionary biology, ecology, sociology, and many others, including medicine. Today there is an incredible abundance of data that allows molecular systems to be modelled at an extraordinary level of detail. This enables us to understand the underlying biological systems better than ever before. Computer models representing human biology can show higher accuracy than animal testing models in predicting adverse drug effects, including toxicity. This improved accuracy (in addition to saving the animals from experimentation) can also lower the risk for patients during clinical trials and speed up the development of medicines for patients in urgent need. A new social enterprise called 123Genetix has have developed a computer simulation platform targeting rare diseases specifically. In fact, 123Genetix believes its predictive models will provide researchers with new insights into the rare diseases they are studying. Why rare diseases? Well for starters, about 10% of North Americans have a rare disease and more than half of those affected by rare diseases are children. Sadly, less than 50% of currently recognized rare diseases have organizations to advocate on behalf of patients and rare disease research. Compounding the problem, pharmaceutical and biotechnology companies are often reluctant to fund rare diseases research because of the perceived poor economics associated with the small target populations. "Rare disease research is hindered by severely limited resources. We plan on doing something about this, but we need your help." - Dr. Wayne Danter, founder and chief scientific officer of 123Genetix. Using elements of artificial intelligence, 123Genetix is creating models of rare disease biology that can discover and identify patterns and relationships from complex datasets, and even effectively predict future outcomes. These models are designed to empower medical researchers to discover potential new research directions that may identify disease specific biomarkers that can lead to new and effective treatments for several rare diseases. 123Genetix has said that their first model will be for Rett Syndrome. In fact, they have already begun developing the model and plan on providing it to a not-for-profit research organization free of charge. 123Genetix is currently running a crowdfunding campaign on Indiegogo to raise funds to allow them to continue their work on the first model. If you want to help make a difference in the rare disease space, please check out their page at http://igg.me/at/hackrare. You can read more about 123Genetix in the Clinical Spotlight of Rare Revolution Magazine's spring edition.
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