PROJECT SUMMARY
Recent advances in science and technology are now making tackling of rare and undiagnosed
disorders possible. By utilizing these advances, along with scientific and clinical expertise, the
Undiagnosed Disease Network (UDN) promises improvement in the lives of individuals and their
families affected with undiagnosed disorders. To benefit from this effort, the nation as a whole,
especially the rich and rapidly increasing diversity of the US population must be taken into
account. With its longstanding excellence in clinical care and research in South Florida, University
of Miami is in an unsurpassed position to be a part of the UDN. We propose to create the Clinical
Site-Miami (CS-Miami), which will recruit, evaluate, and provide data from participants with
undiagnosed disorders. While we will be open to all participants from any location, we will
specifically focus on South Florida. The diverse population of South Florida includes Hispanics
from the Caribbean (e.g. Cuba, Puerto Rico and the Dominican Republic), Mexico, South and
Central America, Caribbean born blacks, Jews and others from all over the world. Many of these
minorities are recent immigrants whose original populations are ideal for the occurrence of rare
diseases due to isolation, inbreeding, and founder effects. Our Clinical and Translational Science
Institute (CTSI) is the only member of the national CTSA consortium co-funded by the National
Institute on Minority Health and Health Disparities (NIMHD) to specifically focus on the health of
underrepresented minorities. To represent the minority populations, we are one of the recruitment
sites for NIH`s AllofUs Precision Medicine Initiative, again, with a focus of enrolling >50% of
minority participants. We will build CS-Miami upon existing expertise in community engagement,
electronic medical records, biorepositories, phenotypic delineation of rare diseases,
characterization of their underlying biology, and access to a large collaboration network. Specific
aims will be to 1) recruitment, enroll, and engage minorities into CS-Miami; 2) characterize rare
and undiagnosed disease phenotypes; 3) to reach a diagnosis via collaborative analysis of
standard data. Our team's combined expertise in clinical assessment, patient engagement,
informatics, ethics and genomics will provide the requisite oversight and structure to ensure we
meet our stated goals.