# UCLA clinical site for the investigation of undiagnosed disorders

> **NIH NIH U01** · UNIVERSITY OF CALIFORNIA LOS ANGELES · 2022 · $192,347

## Abstract

Project Summary / Abstract
Undiagnosed diseases take a disproportionate toll on the health care system and on affected patients and
families. This second Administrative Supplement for 08/05/22-06/30/23 for the UCLA Clinical Site of the UDN
is specifically to support re-initiation of ongoing recruitment, case evaluations pre-acceptance, determination of
acceptance, and enrollment/consenting of the affected individual and relevant family members as well as
clinical evaluation using the sustainable clinic approach with data return and wrap-up for 15 new UDN
participants. This proposal is organized relative to a concurrent administrative supplement without budgetary
overlap. We are poised to restart enrollment by 09/01/22, and complete evaluations by 6/30/22. This funding
will allow the UCLA clinical site to cover research related costs for new enrollees. Our sustainable clinic model
at UCLA will use the administrative supplement to provide for some of the costs associated with basic and
clinical data collection related to the new enrollments, and clinical evaluations will be billed to patient
insurance. This results in an improved diagnostic process for undiagnosed diseases. 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 Second Administrative Supplement of the UCLA Clinical Site of the UDN will support the ongoing
communications with applicants, review of medical records, case discussion, acceptance decisions and
communications, case evaluation at UCLA by telemedicine or in person within UCLA Health clinics and with
insurance billing and patient co-pay, with coverage of research structure and research testing from NIH funds
including a combination of a previously approved Administrative Supplement, this second supplement request,
and a carryforward request from prior year unobligated balance. 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 a network-wide sustainable infrastructure for
translational research on new and rare disorders

## Key facts

- **NIH application ID:** 10677461
- **Project number:** 3U01HG007703-08S2
- **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:** $192,347
- **Award type:** 3
- **Project period:** 2014-07-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10677461

## Citation

> US National Institutes of Health, RePORTER application 10677461, UCLA clinical site for the investigation of undiagnosed disorders (3U01HG007703-08S2). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10677461. Licensed CC0.

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