2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-The NeuroDev Study: Genetic Characterization of Neurodevelopmental Disorders in African Populations

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The NeuroDev study aims to address the lack of diversity in genetic association studies on neurodevelopmental disorders (NDDs) by collecting and analyzing phenotypic and genetic data from over 5,000 individuals in Kenya and South Africa. In the first year of the project, phenotypic data was collected from over 200 probands and exome sequencing was performed on 99 parent-child trios. A total of 23 trios were solved with pathogenic or likely pathogenic variants impacting established NDD genes or cytogenetic regions. The study has contributed to the identification of 8 novel gene-disease associations, 4 of which have been published so far. The NeuroDev study is making progress in addressing the diversity gap in studies of genetic NDDs and has the potential for genetic characterization and rare disease discovery in an African context. The study's sample target is 1,800 probands, 2,100 parents, and 1,800 controls, making it the largest African NDD study to date. The ultimate goal of the study is to create a public resource for the genetics community that includes comprehensive phenotypic data, patient photographs, cell lines, genome-wide common variant data, and exome sequencing data for thousands of African individuals. Sequencing and analysis for the study was funded by grants from the National Human Genome Research Institute, National Eye Institute, and National Heart, Lung and Blood Institute.

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Presenting Author - Emily O'Heir, BS; Co-Author - Patricia Kipkemoi, MSc; Co-Author - Heesu Ally Kim, BA; Co-Author - Bjorn Christ, PhD; Co-Author - Emma Eastman, MA; Co-Author - Celia van der Merwe, PhD; Co-Author - Alice Galvin, BS; Co-Author - Jake Allen, BS; Co-Author - Victoria de Menil, PhD; Co-Author - Alysia Lovgren, PhD; Co-Author - Christina Austin-Tse, PhD; Co-Author - Amina Abubakar, PhD; Co-Author - Charles Newton, MBChB, MD; Co-Author - Kirsten Donald, MBChB, PhD; Co-Author - Anne O'Donnell-Luria, MD, PhD; Co-Author - Elise Robinson, Sc.D.;

Meta Tag

Cognitive Disorders

Exome sequencing

Genotype-Phenotype Correlations

Identification of Disease Genes

Sequencing

Variant Detection

Co-Author Patricia Kipkemoi, MSc

Co-Author Heesu Ally Kim, BA

Co-Author Bjorn Christ, PhD

Co-Author Emma Eastman, MA

Co-Author Celia van der Merwe, PhD

Co-Author Alice Galvin, BS

Co-Author Jake Allen, BS

Co-Author Victoria de Menil, PhD

Co-Author Alysia Lovgren, PhD

Co-Author Christina Austin-Tse, PhD

Co-Author Amina Abubakar, PhD

Co-Author Charles Newton, MBChB, MD

Co-Author Kirsten Donald, MBChB, PhD

Co-Author Anne O'Donnell-Luria, MD, PhD

Co-Author Elise Robinson, Sc.D.

Presenting Author Emily O'Heir, BS

Keywords

NeuroDev study

diversity in genetic association studies

neurodevelopmental disorders

phenotypic data

genetic data

exome sequencing

gene-disease associations

rare disease discovery

African context

public resource