About one in 10-20 people suffer from orphan diseases, a large of group of 7000 rare diseases each affecting relatively few people, but collectively impacting a large part of the human population. For example, porphyrias are a rare group of eight inherited metabolic disorders of heme biosynthesis. Accumulation of specific heme precursorsis associated with characteristic clinical features, such as acute neurovisceral acute attacks, skin lesions, or both. Although the health burden on afflicted porphyria patients can be high, rare diseases like porphyrias are relatively rare disorders with a frequency of occurrence of less than one per 200,000 people. In this NIH/USF (University of South Florida) hackathon event, we aim at developing new analysis and diagnostic tools and forging research communities. We propose to use NSF cloud infrastructure, because the flexibility and ease in deployment in application development by diverse researchers and research teams. We plan to use NSF cloud platform for our benchmarking, evaluation and experimentation on the various resources of rare diseases.
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