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Center for Integrated Approaches to Undiagnosed Diseases

Award Number: U01NS134357
ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
OPDIV: NIH
AWARD CLASS: COOPERATIVE AGREEMENT
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 05/01/2014
PERIOD OF PERFORMANCE END DATE: 04/30/2025

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Center for Integrated Approaches to Undiagnosed Diseases - PROJECT SUMMARY Undiagnosed diseases are likely to be determined by genetic, environmental, and developmental factors. While some undiagnosed diseases will represent novel rare genetic syndromes with monogenic or oligogenic etiologies and others will reflect rare manifestations of known diseases, many are likely to result from a more analytically challenging combination of multiple genetic, environmental, and developmental factors. Whole exome and whole genome sequencing are powerful tools with which to ascertain the genetic contributions to undiagnosed diseases; however, these methods alone are unlikely to elucidate the basis for many, if not most, undiagnosed diseases. The overarching approach we have taken in this Continuation application is to extend the methodologies that we have established in earlier phases of the UDN and to add key components specifically designed to continue to optimize case ascertainment and phenotyping (Aim 1), to refine integrated multidisciplinary disease diagnosis (Aim 2) and to directly support the deployment and further optimization of a fully sustainable UDN model (Aim 3). These specific elements include: • Broadening of the initial case assessment population (including enrichment for health disparity populations) to enable better definition of the difficult-to-diagnose patient who might benefit from UDN approaches; • Development of quantitative triage tools for difficult-to-diagnose patients enabling continued optimization of case selection and the utility of individual techniques; • Deployment of innovative new sequence interpretation pipelines merging the best techniques and personnel from across the entire Boston ecosystem (with additional engagement from BUMC and the Broad Institute); • Broader integration of functional genomics tools in the initial assessment of cases entering the UDN; • Formal deployment and quantitative evaluation of a Boston-wide UDN center funded through active commercial contracts with payers and DHHS (and cross-subsidized through other non-UDN genetics programs in our system, such as Brigham Genomic Medicine); and • Prospective design of all of these elements to allow dissemination of successful components across the entire UDN and beyond. These efforts will maximize the yield of UDN resources while progressively broadening access in a fully sustainable (both practically and financially) model.


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: 2024 ( Subtotal = $433,776 )
2024	2023	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	Trans-NIH Research Support	001	9	5/23/2024	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$0
2024	2023	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	Trans-NIH Research Support	000	9	12/29/2023	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$433,776
														Subtotal = $433,776

Issue Date FY: 2023 ( Subtotal = $518,031 )
2023	2023	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	Trans-NIH Research Support	000	9	4/28/2023	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$518,031
														Subtotal = $518,031

Grand Total All Awards = $951,807

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Center for Integrated Approaches to Undiagnosed Diseases

Award Number: U01NS134357

ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

OPDIV: NIH

AWARD CLASS: COOPERATIVE AGREEMENT

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

PERIOD OF PERFORMANCE START DATE: 05/01/2014

PERIOD OF PERFORMANCE END DATE: 04/30/2025

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