# UCLA clinical site for the investigation of undiagnosed disorders

> **NIH NIH U01** · UNIVERSITY OF CALIFORNIA LOS ANGELES · 2023 · $311,835

## Abstract

Contact PD/PI: Nelson, Stanley F.
Project Summary / Abstract
Undiagnosed diseases take a disproportionate toll on the health care system and on affected patients and
families. The UCLA Clinical Site of the UDN has successfully participated in the formation and management of
the UDN through UDN Steering Committee, Working Groups, UDN meetings, and innovation in genomic
analysis. We propose here to recruit, select, evaluate, and follow at least 15 participants in the project period,
and abide by all UDN guidelines. We will specifically recruit individuals from health disparity populations. We
will work with the UDN Coordinating Center to review and accept cases for evaluation at UCLA with a special
emphasis on disorders related to: neurology, neurodevelopment, hemihypertrophy, cancer predisposition,
neuromuscular, cardiomyopathy, immunology, gastroenterology, or genetic diseases. We will maximize the
use of telemedicine, remote assessments, and performance of directed clinical tests within medical systems
available to participants (i.e., in network care providers). The UCLA Clinical site will coordinate activities to
obtain comprehensive and integrated phenotypic information and augment this with research testing, genomic
analysis not covered by insurance, and advanced genomic interpretation of non-coding DNA through
transcriptomic assessments within the UCLA UDN Clinic in a sustainable manner. Our proposal addresses the
overarching goals of the UDN as an integrated research enterprise within clinical practice to identify the causes
of undiagnosed diseases by 1) collecting standardized, high-quality phenotypic data on rare disease patients
2) improving the efficiency of diagnosis through relevant medical records review/team discussion, and
integration with transcriptomics to improve interpretation of genomic sequencing, and 3) working within the
overall UDN to promote integration of data across its network to enhance understanding of rare diseases and
mechanisms. We continue to reach these overarching goals by implementing the following specific aims: Aim
1: Implement 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 and refine a network-wide sustainable infrastructure for translational research on new
and rare disorders.
Project Summary/Abstract Page 6

## Key facts

- **NIH application ID:** 10874104
- **Project number:** 3U01NS134356-09S1
- **Recipient organization:** UNIVERSITY OF CALIFORNIA LOS ANGELES
- **Principal Investigator:** Julian Martinez-Agosto
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2023
- **Award amount:** $311,835
- **Award type:** 3
- **Project period:** 2023-09-15 → 2025-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10874104

## Citation

> US National Institutes of Health, RePORTER application 10874104, UCLA clinical site for the investigation of undiagnosed disorders (3U01NS134356-09S1). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10874104. Licensed CC0.

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