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The Undiagnosed Diseases Network (UDN) enhances diagnosis and care for rare diseases. It facilitates research by collecting and sharing patient data, fostering collaboration among investigators nationwide.

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Area of Science:

  • Genetics and Genomics
  • Rare Diseases Research
  • Clinical Medicine

Background:

  • The Undiagnosed Diseases Network (UDN) is an expansion of the National Institutes of Health Undiagnosed Diseases Program (NIH UDP).
  • Supported by the NIH Common Fund, the UDN includes a coordinating center, six clinical sites, and two sequencing cores.

Purpose of the Study:

  • To enhance diagnostic and care standards for patients with undiagnosed diseases via standardized network-wide protocols.
  • To advance research into the causes of undiagnosed diseases through collection and sharing of high-quality clinical, genotypic, phenotypic, and environmental data.
  • To foster a collaborative research environment for investigating rare disease pathophysiology and management strategies.

Main Methods:

  • Development of common diagnostic protocols across multiple clinical sites.
  • Standardized collection and sharing of comprehensive patient data, including genotyping, phenotyping, and environmental exposures.
  • Establishment of policies and governance for broad data sharing within the network.

Main Results:

  • The UDN integrates a network of clinical and research sites to improve undiagnosed disease diagnosis.
  • Standardized data collection and sharing protocols are being established to facilitate research.
  • A collaborative research community is being formed to investigate rare disease etiology and management.

Conclusions:

  • The UDN aims to significantly improve the diagnostic odyssey for patients with rare and undiagnosed conditions.
  • Broad data sharing is fundamental to the UDN's success in advancing research and patient care.
  • The network fosters collaboration to accelerate discoveries in the pathophysiology and treatment of undiagnosed diseases.