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Deciphering Developmental Disorders in Africa (DDD-Africa) - Evaluating Clinical Exome Sequencing in an African Setting

Award Number: U01MH115483
ORGANIZATION: NATIONAL INSTITUTE OF MENTAL HEALTH
OPDIV: NIH
AWARD CLASS: COOPERATIVE AGREEMENT
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

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Developmental disorders are severe, chronic disabilities that are systematically increasing in prevalence in low-and middle-income countries. Due to the high burden of infectious disease in many African countries, active research into rare disorders such as DD has been neglected. The genetic aetiology of DD is complex and therefore traditional diagnostic tests have a low success yield. Next-generation sequencing has transformed our understanding of genomic variation and its relevance to health and disease, and has significantly impacted the precision of diagnosis for DD. Overall, whole-exome sequencing (WES) as a investigative tool can directly impact care, whilst costing less than the cascade of genetic testing typically required to elucidate the genetic cause of DD. Moreover, its applicable use in a resource-poor setting, as is the case in many African countries, has not been assessed. Our proposed project will be modeled on the Deciphering Developmental Delay (DDD)-UK study, which successfully facilitated the translation of genomic sequencing technologies for diagnosing DD in the UK. This partnership will enable us to leverage existing clinical-, research- and bioinformatics expertise and resources whilst shaping it for successful implementation in an African setting. Our long-term objective is to assess whether systematic phenotyping linked with WES improve the prospect of identifying likely pathogenic mutations in African patients with DD. To achieve this we will recruit at least 500 participants with DD in whom a genetic diagnosis has not been confirmed, and their parents to this study. We will collect detailed clinical information and DNA samples from DD patients and their parents and to perform WES on the trio. Multipart bioinformatics analyses will be performed to interpret and delineate the genetic etiology of DD in participants. Throughout the process we intend to engage with participants and relevant stakeholders to assess genomic literacy, ethical issues related to genomic research and opportunities for improved counseling. The proposed project will allow the initiation of the DDD-Africa framework, creating a unique opportunity to improve research capacity, to provide training opportunities and to build a wider collaborative network on the African continent in future.


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: 2025 ( Subtotal = -$7,143 )
2025	2021	WITS HEALTH CONSORTIUM (PTY) LTD	31 PRINCESS OF WALES TERRACE	JOHANNESBURG				ZAF	Mental Health Research Grants	000	5	10/1/2024	NON-COMPETING CONTINUATION	-$7,143
														Subtotal = -$7,143

Issue Date FY: 2024 ( Subtotal = $0 )
2024	2021	WITS HEALTH CONSORTIUM (PTY) LTD	31 PRINCESS OF WALES TERRACE	JOHANNESBURG				ZAF	Mental Health Research Grants	000	5	8/9/2024	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2023 ( Subtotal = $0 )
2023	2021	WITS HEALTH CONSORTIUM (PTY) LTD	31 PRINCESS OF WALES TERRACE PARKTOWN	JOHANNESBURG				ZAF	Mental Health Research Grants	000	5	6/15/2023	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2022 ( Subtotal = $0 )
2022	2021	WITS HEALTH CONSORTIUM (PTY) LTD	31 PRINCESS OF WALES TERRACE PARKTOWN	JOHANNESBURG				ZAF	Mental Health Research Grants	000	5	5/11/2022	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2021 ( Subtotal = $178,804 )
2021	2021	WITS HEALTH CONSORTIUM (PTY) LTD	31 PRINCESS OF WALES TERRACE PARKTOWN	JOHANNESBURG				ZAF	Mental Health Research Grants	001	5	7/28/2021	NON-COMPETING CONTINUATION	$178,804
2021	2020	WITS HEALTH CONSORTIUM (PTY) LTD	31 PRINCESS OF WALES TERRACE PARKTOWN	JOHANNESBURG				ZAF	Mental Health Research Grants	000	4	2/1/2021	NON-COMPETING CONTINUATION	$0
														Subtotal = $178,804

Issue Date FY: 2020 ( Subtotal = $335,134 )
2020	2020	WITS HEALTH CONSORTIUM (PTY) LTD	31 PRINCESS OF WALES TERRACE PARKTOWN	JOHANNESBURG		2193		ZAF	Mental Health Research Grants	001	4	7/20/2020	NON-COMPETING CONTINUATION	$335,134
2020	2019	WITS HEALTH CONSORTIUM (PTY) LTD	31 PRINCESS OF WALES TERRACE PARKTOWN	JOHANNESBURG		2193		ZAF	Mental Health Research Grants	000	3	2/3/2020	NON-COMPETING CONTINUATION	$0
														Subtotal = $335,134

Issue Date FY: 2019 ( Subtotal = $342,603 )
2019	2019	WITS HEALTH CONSORTIUM (PTY) LTD	31 PRINCESS OF WALES TERRACE PARKTOWN	JOHANNESBURG		2193		ZAF	Mental Health Research Grants	002	3	9/17/2019	NON-COMPETING CONTINUATION	$0
2019	2019	WITS HEALTH CONSORTIUM (PTY) LTD	31 PRINCESS OF WALES TERRACE PARKTOWN	JOHANNESBURG		2193		ZAF	Mental Health Research Grants	001	3	7/16/2019	NON-COMPETING CONTINUATION	$342,603
2019	2018	WITS HEALTH CONSORTIUM (PTY) LTD	31 PRINCESS OF WALES TERRACE PARKTOWN	JOHANNESBURG		2193		ZAF	Mental Health Research Grants	000	2	12/17/2018	NON-COMPETING CONTINUATION	$0
														Subtotal = $342,603

Issue Date FY: 2018 ( Subtotal = $204,013 )
2018	2018	WITS HEALTH CONSORTIUM (PTY) LTD	8 BLACKWOOD AVENUE	JOHANNESBURG		2193		ZAF	Mental Health Research Grants	000	2	6/27/2018	NON-COMPETING CONTINUATION	$204,013
														Subtotal = $204,013

Issue Date FY: 2017 ( Subtotal = $212,048 )
2017	2017	WITS HEALTH CONSORTIUM (PTY) LTD	8 BLACKWOOD AVENUE	JOHANNESBURG		2193		ZAF	Mental Health Research Grants	000	1	9/12/2017	NEW	$212,048
														Subtotal = $212,048

Grand Total All Awards = $1,265,459

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Deciphering Developmental Disorders in Africa (DDD-Africa) - Evaluating Clinical Exome Sequencing in an African Setting

Award Number: U01MH115483

ORGANIZATION: NATIONAL INSTITUTE OF MENTAL HEALTH

OPDIV: NIH

AWARD CLASS: COOPERATIVE AGREEMENT

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

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