# Intermountain West Clinical Site for the Undiagnosed Disease Network (UDN), Phase 2

> **NIH NIH U01** · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · 2020 · $550,000

## Abstract

PROJECT SUMMARY/ABSTRACT
We propose to establish an Intermountain West Clinical Site at the University of Utah for the Undiagnosed
Disease Network. The proposed site will provide unprecedented access to a vast area across five states that
encompasses ~10% of the Continental US. Its residents are among the most underserved in the United States;
with rural, minority, and low-income groups historically `genetically underserved', including a large Native
American population. To advance state-of-the-art diagnosis and management, we will leverage our successful
pediatric Penelope program—our `innovation laboratory' and proof-of concept program for undiagnosed and
rare diseases--to further develop and test processes, protocols, and tools for clinical assessment and care of
people with undiagnosed diseases of all ages. Integrally connected to the clinical program, our bioinformatics
team will bring to the UDN innovative bioinformatics tools to advance the power and the reach of genomic
discovery. Our internationally recognized team has developed tools that integrate sequencing data with clinical
and pedigree information (VAAST, GEMINI, RUFUS) to better find disease-causing variants. Importantly, some
of these tools (IOBIO) are designed for clinicians without extensive bioinformatics background, to quicken the
pace and expand the reach of state-of-the-art genetic testing beyond academic centers and into the
community. To improve sustainability, we will refine and share our program's tools and care process models
that integrate clinical and research workflows efficiently.
In summary, the Intermountain West Clinical Site will bring the team, experience, resources, and institutional
support to advance the shared goal of UDN – improve the diagnosis and management of difficult-to-diagnose
and new diseases—efficiently, equitably, and sustainably.

## Key facts

- **NIH application ID:** 9969454
- **Project number:** 5U01HG010217-03
- **Recipient organization:** UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH
- **Principal Investigator:** Lorenzo Davide Botto
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $550,000
- **Award type:** 5
- **Project period:** 2018-09-20 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9969454

## Citation

> US National Institutes of Health, RePORTER application 9969454, Intermountain West Clinical Site for the Undiagnosed Disease Network (UDN), Phase 2 (5U01HG010217-03). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/9969454. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*