The Role of Integrated Datasets in Addressing Rare Diseases Research Challenges

Gaining knowledge on rare diseases is limited by the scarcity and dispersity of patient data. Sequencing technologies have greatly contributed to elucidating the genetic components of these conditions, but a more comprehensive molecular picture remains to be uncovered. In this talk, we will discuss how digitalization can foster data collaboration and integrative analysis of multi-omics data across various diseases. We will show how to characterize rare disorders and build disease predictive models guiding the diagnosis and treatment of yet unknown conditions.

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Critical Path Institute (C-Path) is an independent, nonprofit organization established in 2005 as a public and private partnership. C-Path’s mission is to catalyze the development of new approaches that advance medical innovation and regulatory science, accelerating the path to a healthier world. An international leader in forming collaborations, C-Path has established numerous global consortia that currently include more than 1,600 scientists from government and regulatory agencies, academia, patient organizations, disease foundations, and hundreds of pharmaceutical and biotech companies. C-Path U.S. is headquartered in Tucson, Arizona, C-Path in Europe is headquartered in Amsterdam, Netherlands and C-Path Ltd. operates from Dublin, Ireland with additional staff in multiple other locations. For more information, visit

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