# An integrated and diverse genomic medicine program for undiagnosed diseases

> **NIH NIH U01** · DUKE UNIVERSITY · 2022 · $566,060

## Abstract

Abstract
The mission of the UDN is to provide diagnoses to patients with undiagnosed phenotypes and advance
research in the field of rare diseases. Since opening for applications in 2015 the Duke site has fulfilled this
mission fully, achieving diagnoses for ~40% of participants, publishing more new disease gene discoveries
than any other site in the Network, and delineating the psychosocial aspects of rare/ultra-rare disorders. These
achievements have been possible due to our investment in a multi-disciplinary team of clinical and research
professionals that focuses solely on achieving the goals of the Network and improving the lives of participants
with rare or undiagnosed disorders. In this administrative supplement we will continue our work for new
patients who are accepted into the Network for prior to June 30, 2022, but will be evaluated after that time
(n=20). We will complete genomic sequencing and analysis, and we will identify and complete additional
research tests as indicated in order to achieve diagnoses for our participants. We also will reevaluate the
phenotypic and genomic data from active patients who remain undiagnosed from previous years (n= 120). All
new and previously undiagnosed patients will be notified of the final status of their UDN evaluation and any
pertinent results. We will continue to assess the psychosocial characteristics that are associated with living
with, or having a child/family member with, an undiagnosed disease. Finally, we will continue to participate in
Network activities, including the ongoing discussions regarding the structure, function and funding for the UDN
beyond Phase II.

## Key facts

- **NIH application ID:** 10600346
- **Project number:** 3U01HG007672-08S2
- **Recipient organization:** DUKE UNIVERSITY
- **Principal Investigator:** VANDANA SHASHI
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $566,060
- **Award type:** 3
- **Project period:** 2014-07-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10600346

## Citation

> US National Institutes of Health, RePORTER application 10600346, An integrated and diverse genomic medicine program for undiagnosed diseases (3U01HG007672-08S2). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10600346. Licensed CC0.

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