Tuesday, September 16, 2025 9/16/2025

Advancing discovery for developmental disorders - expanded analysis of the DDD-Africa resource

Award Number: U01HD114537
ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT
OPDIV: NIH
AWARD CLASS: COOPERATIVE AGREEMENT
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 09/01/2023
PERIOD OF PERFORMANCE END DATE: 08/31/2026

Group Awards By:

View Award Description

Advancing discovery for developmental disorders - expanded analysis of the DDD-Africa resource - Developmental disorders (DD) are severe and chronic disabilities that often leads to early childhood death, or long-term morbidity in the survivors. Due to the high burden of infectious disease in many African countries, active research into rare diseases such as DD has often been neglected. The genetic aetiology of DD is complex as DD syndromes are marked by both clinical- and genetic heterogeneity. The Deciphering Developmental Disorders in Africa study (DDD-Africa) was initiated to address this knowledge gap, and the resource that was built holds the potential for much discovery, especially by catalyzing new collaborations and through the application of data science approaches. We therefore propose to use the clinical information, genetic data, and DNA resources from the DDD-Africa study to investigate the following hypotheses: 1. An exome-based CNV calling workflow that incorporates different tools, will identify putative disease- causing structural variants, and increase the diagnostic yield for DD-ID patients. 2. Identifying genome-wide DNA methylations patterns will assist in diagnosing genetically unsolved African DD-ID patients. 3. Phenotype-aware, artificial intelligence software can improve genotype-phenotype correlation in African DD-ID patients. Through this study, we will increase the diagnostic yield of DD-ID in African patients and broaden the knowledge discovery potential for rare diseases in Africa. This work will furthermore increase health data science capacity in Africa and create an ecosystem that can provide local solutions for rare diseases such as DD in Africa.


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 = $246,699 )
2025	2025	WITS HEALTH CONSORTIUM (PTY) LTD	31 PRINCESS OF WALES TERRACE	JOHANNESBURG				ZAF	Child Health and Human Development Extramural Research	001	3	8/29/2025	SUPPLEMENT FOR EXPANSION	$32,200
2025	2025	WITS HEALTH CONSORTIUM (PTY) LTD	31 PRINCESS OF WALES TERRACE	JOHANNESBURG				ZAF	Child Health and Human Development Extramural Research	000	3	8/19/2025	NON-COMPETING CONTINUATION	$214,499
														Subtotal = $246,699

Issue Date FY: 2024 ( Subtotal = $250,000 )
2024	2024	WITS HEALTH CONSORTIUM (PTY) LTD	31 PRINCESS OF WALES TERRACE	JOHANNESBURG				ZAF	Child Health and Human Development Extramural Research	000	2	8/26/2024	NON-COMPETING CONTINUATION	$250,000
														Subtotal = $250,000

Issue Date FY: 2023 ( Subtotal = $250,000 )
2023	2023	WITS HEALTH CONSORTIUM (PTY) LTD	31 PRINCESS OF WALES TERRACE PARKTOWN	JOHANNESBURG				ZAF	Child Health and Human Development Extramural Research	000	1	8/29/2023	NEW	$250,000
														Subtotal = $250,000

Grand Total All Awards = $746,699

Top

All Categories

About

Search

Reports

Data Submission

Award Information

Advancing discovery for developmental disorders - expanded analysis of the DDD-Africa resource

Award Number: U01HD114537

ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT

OPDIV: NIH

AWARD CLASS: COOPERATIVE AGREEMENT

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

PERIOD OF PERFORMANCE START DATE: 09/01/2023

PERIOD OF PERFORMANCE END DATE: 08/31/2026

Federal Websites

Department of Health & Human Services

HHS Operating Divisions

HHS Staff Divisions

Download A Document Viewer