# UCLA clinical site for the investigation of undiagnosed disorders

> **NIH NIH U01** · UNIVERSITY OF CALIFORNIA LOS ANGELES · 2021 · $550,000

## Abstract

Project Summary / Abstract
Undiagnosed diseases take a disproportionate toll on the health care system and on affected patients and
families. Our renewal application builds on our success in helping to form and grow the current Undiagnosed
Diseases Network (UDN). Our proposal strengthens a collaborative network of researchers and healthcare
providers, all with a stake in improving healthcare and outcomes for persons affected by various rare genetic
disorders. Our approach synergizes basic and clinical research and patient care with the use of cutting-edge
phenotyping technologies, an array of world class experts, and the translation of genome sequencing to the
bedside. This results in a greatly improved diagnostic process for rare genetic diseases and facilitates novel
discovery in clinical practice. Investigating rare diseases involving multiple systems and incorporating
comprehensive genomic data into clinical care creates considerable challenges, from the interpretation of vast
amounts of genetic variants to their relevance to the symptoms, to the communication issues linked to their
disclosure, and to their impact on clinical management. Our proposal describes our current UDN Clinical Site
and modifications necessary to transition to a sustainable clinic model that functions within the UCLA Health
System and as a component of an ongoing international network to tackle the incorporation of cutting edge
molecular diagnostics into the clinical workflow, analyze patients’ symptoms in a standardized and reproducible
fashion, and perform research investigations to elucidate the mechanisms of undiagnosed diseases. We will
reach these overarching goals by implementing the following specific aims: Aim 1: Sustain a UDN clinic model
that functions locally and network-wide; Aim 2: Investigate the clinical phenotypes of new and rare disorders;
Aim 3: Investigate the underlying mechanisms of new and rare disorders; Aim 4: Build a network-wide
sustainable infrastructure for translational research on new and rare disorders. Substantial David Geffen
School of Medicine resources are available to facilitate the transition and maintenance of the sustainable clinic
model that serves an essential need with the UCLA Health System, the School of Medicine, and the Institute
for Precision Health. The UCLA approach is an efficient model for accelerating translational and clinical
research while improving care delivery and augmenting the educational mission of UCLA. Our project
integrates the resources of (1) the infrastructure of the UCLA Clinical and Translational Science Institute, (2) an
experienced team of clinicians from all specialty fields, (3) expertise in the combined interrogation of DNA and
RNA sequencing data for novel gene discovery; (4) expertise in the investigation of environmental effects on
clinical symptoms; (5) expertise in outcomes of genetic counseling and testing, (6) access to a large, ethnically
varied population and (7) a sustainable approach ...

## Key facts

- **NIH application ID:** 10223401
- **Project number:** 5U01HG007703-08
- **Recipient organization:** UNIVERSITY OF CALIFORNIA LOS ANGELES
- **Principal Investigator:** Julian Martinez-Agosto
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $550,000
- **Award type:** 5
- **Project period:** 2014-07-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10223401

## Citation

> US National Institutes of Health, RePORTER application 10223401, UCLA clinical site for the investigation of undiagnosed disorders (5U01HG007703-08). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10223401. Licensed CC0.

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