# UCLA clinical site for the investigation of undiagnosed disorders

> **NIH NIH U01** · UNIVERSITY OF CALIFORNIA LOS ANGELES · 2022 · $440,092

## Abstract

Project Summary / Abstract
Undiagnosed diseases take a disproportionate toll on the health care system and on affected patients and
families. The Administrative Supplement for the UCLA Clinical Site of the UDN supports ongoing work within
the UDN, 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, and bridges to a Sustainable
Clinic Model for the UCLA Clinical Site. 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. The
Administrative Supplement of the UCLA Clinical Site of the UDN supports ongoing communications with
participants and their families and completion of initiated work on gene/disease discovery with UDN
collaborators. We will 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 a network-wide sustainable infrastructure for translational research on new and rare
disorders. Substantial David Geffen School of Medicine resources are available within the California Center for
Rare Diseases 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 California Center for Rare Diseases, (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 that includes training clinicians, genetic counselors, and basic scientists in the
multidisciplinary approach to solve undiagnosed diseases.

## Key facts

- **NIH application ID:** 10600646
- **Project number:** 3U01HG007703-08S1
- **Recipient organization:** UNIVERSITY OF CALIFORNIA LOS ANGELES
- **Principal Investigator:** Julian Martinez-Agosto
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $440,092
- **Award type:** 3
- **Project period:** 2022-07-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10600646

## Citation

> US National Institutes of Health, RePORTER application 10600646, UCLA clinical site for the investigation of undiagnosed disorders (3U01HG007703-08S1). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10600646. Licensed CC0.

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