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In: Challenges

06 Dec, 2012Identifying Rare Diseases with Genome Analysis


Personalized medicine is increasingly becoming a reality, led by the idea that knowing more about genome will help customize the proper treatment, especially where rare diseases are concerned. Sequencing is the first step to learning more about a disease or a genetic pre-disposition, but the analysis step is where the valuable information comes from. Recently, we learned how studying human tissue can teach us about rare disease, but today we will look into how genetic analysis can help diagnose a rare disease.

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05 Dec, 2012Rare Disease Research with Assay Depot and Biopta


A big reason why scientists choose to do research is the desire to ultimately improve human health outcomes. Whether exploring how an enzyme interacts in a cell or the compound synthesis of a drug, scientists are building global knowledge and providing the framework for new treatments for diseases. Our Rare Disease Science Challenge provides the opportunity for researchers or families looking to further rare disease to work with service experts from many different areas. Assay Depot wants to help rare disease researchers find the service they need – either from a donor to the competition or vendor elsewhere in the world.

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28 Nov, 2012Rare Diseases: The Biggest Screen


Shortly after coming across a story about a mother and father who are forced to relocate to another country in order to obtain treatment for their baby son’s rare disease, we took notice of another American family with a child who shares a disease with less than thirty people in the United States take matters into their own hands and pursue the development of a possible treatment. Their story is documented in an upcoming film, “RARE”.

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14 Nov, 2012Custom Mouse Models for the Rare Disease Challenge


Taconic has donated custom mouse model generation for the Rare Disease Science Challenge: Be HEARD. The research service is worth over $50,000 dollars…

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23 Oct, 2012Rare Diseases Need Love, Too


In our efforts to bring exposure to rare disease research through our Rare Disease Challenge, we’ve learned that only about 5% of the…

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