Research Associate II The Broad Institute Cambridge, Massachusetts, United States
Abstract: Rare diseases, as defined by the World Health Organization, are conditions affecting fewer than 65 in 100,000 people. However, low individual prevalence does not translate to low total impact. There are thousands of such conditions, cumulatively affecting a global population exceeding 300 million – a substantial health burden. As the rare disease research space expands, with advances in diagnostics and surveillance enabling the identification of 300 new diseases each year, few organizations are equipped to keep pace on the therapeutics side. For example, advocacy groups, led by tenacious patients with extraordinary fundraising capabilities, are limited in their knowledge of disease biology and access to the resources needed to develop therapeutics at a tractable scale. To address this discrepancy, we at the Broad Institute's Center for the Development of Therapeutics (CDoT) are spearheading the creation of a platform to centralize the study of rare disease mechanisms and treatments at scale. CDoT, as a scientific partner, unlocks access to the Broad Institute’s wide array of resources, including cross-disciplinary expertise in high content imaging, -omics, computational biology, and medicinal chemistry. One resource of particular relevance is the Repurposing Hub, a collection of small molecule compounds including FDA- and globally-approved drugs which are extensively annotated in a partner database. It is an invaluable tool for both the identification of new treatments and the interrogation of novel pathways involved in the manifestation of the disease, and facilitates research progress from early investigative biology to drug screening and downstream drug discovery. Here, we elaborate on examples of CDoT’s collaborative and multidisciplinary efforts in rare disease research.
