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Collaborative multi-site project to speed the identification and management of rare genetic immune diseases

Award Number: R01AI153827
ORGANIZATION: NATIONAL INSTITUTE OF ALLERGY & INFECTIOUS DISEASES
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 02/25/2021
PERIOD OF PERFORMANCE END DATE: 01/31/2027

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Collaborative multi-site project to speed the identification and management of rare genetic immune diseases - Summary The subject of this proposal is a new, collaborative approach to improve the diagnosis of primary immunodeficiency diseases (PIDs). These patients have individually rare, monogenic disorders leading to severe infections, autoimmunity, and inflammation. The prevalence of PIDs is ~1:10,000 and approximately half have antibody deficiencies as their main immunological phenotype. Most doctors are unaware of these diseases and many patients go years without a diagnosis, costing the system tens of thousands of dollars per patient yearly and unnecessarily increasing morbidity and mortality. There is a tremendous, untapped opportunity to advance the diagnosis of patients with PIDs. We propose to utilize new machine-learning approaches to algorithmically identify patients with PIDs from their electronic health records (EHR). To accomplish our goals, we have built a coalition of computational genomics groups at UCLA, UCSF, and Vanderbilt (Computational team), and clinical immunology groups at the five University of California medical centers (Los Angeles, San Francisco, Irvine, San Diego, and Davis) (Immunology team). We propose to: Identify patients with rare immune diseases by phenotype risk scoring (Aim 1). We will speed the identification of patients with rare immune diseases by surveilling the EHR using a phenotype risk scoring approach, building upon recently published work in Science. We will apply this approach to the UCLA, UCSF, and Vanderbilt clinical data repositories to identify potential cases. We will improve risk scoring by considering gender, age, and race/ethnicity. We will classify patients by whether they have an infection phenotype or immune dysregulation phenotype. Subsequently, we will expand to the larger, UC Health-wide Data Warehouse (UCHWDW), entailing 15+ million patients across all UC medical centers. We will then Identify the genetic immune diseases for these newly found subjects (Aim 2). We will follow the state-of-the-art approach employed by the UCLA and Vanderbilt Undiagnosed Disease Network (UDN) sites. We will start by sequencing all the known antibody deficiency patients across the Immunology team sites while collaboratively pre-reviewing identified cases from Aim 1 on monthly video-calls. For selected subjects, we will perform whole genome and RNA sequencing. Clinical and research laboratory testing will bring closure to the diagnostic odyssey for these subjects. The overall impact of this work accelerates the diagnosis and cure of PIDs. This project will also serve as a demonstration of how immunology sites can work together sharing electronic medical records and genomic data to advance care.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $0 )
2026	2025	UNIVERSITY OF CALIFORNIA, LOS ANGELES	10889 WILSHIRE BLVD STE 700	LOS ANGELES	CA	90024	LOS ANGELES	USA	Allergy and Infectious Diseases Research	000	5	11/3/2025	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2025 ( Subtotal = $767,143 )
2025	2025	UNIVERSITY OF CALIFORNIA, LOS ANGELES	10889 WILSHIRE BLVD STE 700	LOS ANGELES	CA	90024	LOS ANGELES	USA	Allergy and Infectious Diseases Research	000	5	1/10/2025	NON-COMPETING CONTINUATION	$767,143
														Subtotal = $767,143

Issue Date FY: 2024 ( Subtotal = $791,219 )
2024	2024	UNIVERSITY OF CALIFORNIA, LOS ANGELES	10889 WILSHIRE BLVD STE 700	LOS ANGELES	CA	90024	LOS ANGELES	USA	Allergy and Infectious Diseases Research	001	4	5/28/2024	NON-COMPETING CONTINUATION	$79,121
2024	2024	UNIVERSITY OF CALIFORNIA, LOS ANGELES	10889 WILSHIRE BLVD STE 700	LOS ANGELES	CA	90024	LOS ANGELES	USA	Allergy and Infectious Diseases Research	000	4	1/9/2024	NON-COMPETING CONTINUATION	$712,098
														Subtotal = $791,219

Issue Date FY: 2023 ( Subtotal = $791,566 )
2023	2023	UNIVERSITY OF CALIFORNIA, LOS ANGELES	10889 WILSHIRE BLVD STE 700	LOS ANGELES	CA	90024	LOS ANGELES	USA	Allergy and Infectious Diseases Research	000	3	1/26/2023	NON-COMPETING CONTINUATION	$791,566
														Subtotal = $791,566

Issue Date FY: 2022 ( Subtotal = $792,119 )
2022	2022	UNIVERSITY OF CALIFORNIA, LOS ANGELES	10889 WILSHIRE BLVD STE 700	LOS ANGELES	CA	90024	LOS ANGELES	USA	Allergy and Infectious Diseases Research	000	2	1/11/2022	NON-COMPETING CONTINUATION	$792,119
														Subtotal = $792,119

Issue Date FY: 2021 ( Subtotal = $806,368 )
2021	2021	UNIVERSITY OF CALIFORNIA, LOS ANGELES	10889 WILSHIRE BLVD STE 700	LOS ANGELES	CA	90095	LOS ANGELES	USA	Allergy and Infectious Diseases Research	000	1	2/25/2021	NEW	$806,368
														Subtotal = $806,368

Grand Total All Awards = $3,948,415

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Collaborative multi-site project to speed the identification and management of rare genetic immune diseases

Award Number: R01AI153827

ORGANIZATION: NATIONAL INSTITUTE OF ALLERGY & INFECTIOUS DISEASES

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 02/25/2021

PERIOD OF PERFORMANCE END DATE: 01/31/2027

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