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Integration of MARRVEL and ModelMatcher to facilitate undiagnosed disease research

Award Number: U54NS093793
ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
OPDIV: NIH
AWARD CLASS: COOPERATIVE AGREEMENT
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

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Title: Integration of MARRVEL and ModelMatcher to facilitate undiagnosed disease research Project Summary: Rare disease patients often experience painstaking diagnostic and therapeutic odysseys. State-of-the-art genome sequencing technologies may provide answers for ~30% of these cases, but many are often left with a handful of candidate genetic variants that require experimental follow-up studies to establish causality. In addition to performing functional studies of candidate variants identified by the Clinical Sites and the Sequencing Core of the Undiagnosed Diseases Network (UDN), the Model Organisms Screening Centers (MOSCs) has been developing bioinformatic tools to support the overall mission of the UDN. For the past four years, we have been developing a bioinformatic tool MARRVEL, to gather and display important data that is necessary for rare variant analysis based on variety of databases that are scattered around the web for personalized medicine. In addition, the MOSC just built and launched a centralized registry of collaborative scientists called ModelMatcher that can be used by clinicians and other stakeholders of undiagnosed disease research (e.g. patients, family members, patient organizations, funding agencies, pharma) to identify basic scientists who are interested in collaboration to facilitate diagnostic, translational and therapeutic research. Although both MARRVEL and ModelMatcher are valuable resources, the two have been built on distinct platforms due to technical reasons and there is currently no cross-talk between these services. In this project, we will modify and upgrade MARRVEL and ModelMatcher by extensively linking the two websites to increase utility, value, and user-experience by updating the online portals and through development of APIs (Application Programming Interfaces). Upon completion, MARRVEL users will be able to instantaneously identify scientists who are actively working on a specific gene in model organisms, and ModelMatcher users will be able to gather comprehensive information about their gene of interest from diverse human databases and in various model organisms when they search the registry. The integration of these two one-of-its-kind websites that have been developed through the support of the UDN will not only have a large impact on studies of rare and undiagnosed diseases, but will stimulate information exchange and collaborations on genes involved in common diseases as well as other genetic disorders including cancer. Finally, newly developed APIs will allow other database to computationally access information stored in the ModelMatcher and MARRVEL, further facilitating collaborations internationally and throughout multiple scientific and clinical disciplines.


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 = -$99,469 )
2024	2022	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Trans-NIH Research Support	000	7	2/22/2024	SUPPLEMENT FOR EXPANSION	-$99,469
														Subtotal = -$99,469

Issue Date FY: 2022 ( Subtotal = $549,858 )
2022	2022	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Trans-NIH Research Support	001	7	6/30/2022	SUPPLEMENT FOR EXPANSION	$549,858
2022	2021	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	7	6/29/2022	NON-COMPETING CONTINUATION	$0
														Subtotal = $549,858

Issue Date FY: 2021 ( Subtotal = $685,160 )
2021	2021	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	002	7	7/7/2021	SUPPLEMENT FOR EXPANSION	$149,992
2021	2021	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	7	6/23/2021	NON-COMPETING CONTINUATION	$535,168
2021	2020	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	6	5/12/2021	NON-COMPETING CONTINUATION	$0
														Subtotal = $685,160

Issue Date FY: 2020 ( Subtotal = $990,107 )
2020	2020	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	002	6	7/7/2020	SUPPLEMENT FOR EXPANSION	$149,991
2020	2020	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	6	6/24/2020	NON-COMPETING CONTINUATION	$840,116
2020	2019	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	5	2/21/2020	NON-COMPETING CONTINUATION	$0
														Subtotal = $990,107

Issue Date FY: 2019 ( Subtotal = $1,691,119 )
2019	2019	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	005	5	9/5/2019	SUPPLEMENT FOR EXPANSION	$320,000
2019	2019	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	003	5	6/27/2019	NON-COMPETING CONTINUATION	$1,071,001
2019	2019	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Trans-NIH Research Support	004	5	7/1/2019	SUPPLEMENT FOR EXPANSION	$300,118
2019	2018	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	4	1/9/2019	COMPETING CONTINUATION	$0
2019	2018	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	002	4	2/10/2019	COMPETING CONTINUATION	$23,466
2019	2017	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	3	2/10/2019	NON-COMPETING CONTINUATION	-$23,466
														Subtotal = $1,691,119

Issue Date FY: 2018 ( Subtotal = $1,083,339 )
2018	2018	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	4	9/10/2018	COMPETING CONTINUATION	$1,083,339
														Subtotal = $1,083,339

Issue Date FY: 2017 ( Subtotal = $731,832 )
2017	2017	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	3	8/18/2017	NON-COMPETING CONTINUATION	$731,832
														Subtotal = $731,832

Issue Date FY: 2016 ( Subtotal = $806,033 )
2016	2016	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	2	9/12/2016	SUPPLEMENT FOR EXPANSION	$200,201
2016	2016	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	2	8/29/2016	NON-COMPETING CONTINUATION	$736,033
2016	2016	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	002	2	9/14/2016	SUPPLEMENT FOR EXPANSION	-$130,201
														Subtotal = $806,033

Issue Date FY: 2015 ( Subtotal = $1,001,596 )
2015	2015	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	1	9/14/2015	NEW	$1,001,596
														Subtotal = $1,001,596

Grand Total All Awards = $7,439,575

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Integration of MARRVEL and ModelMatcher to facilitate undiagnosed disease research

Award Number: U54NS093793

ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

OPDIV: NIH

AWARD CLASS: COOPERATIVE AGREEMENT

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

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