NeuroDev: Genetic characterization of neurodevelopmental disorders in African populations

  • Awarded: 2018
  • Award Type: Research
  • Award #: 599648

The genetic characterization of neurodevelopmental disorders in sub-Saharan Africa project (NeuroDev) seeks to expand our knowledge of the genetic architecture of etiologically related neurodevelopmental disorders — particularly autism spectrum disorders (ASDs), intellectual disability and attention deficit hyperactivity disorder (ADHD) — in Africa through large-scale sample collection, analysis and participant follow-up1.

Over the next four years, Elise Robinson, in collaboration with Charles Newton, Kirsten Donald and Amina Abubakar, plans to develop the initial NeuroDev collection of genotyping and exome-sequencing data of 1,800 children with neurodevelopmental disorders in South Africa and Kenya, 1,800 ancestry-matched child controls and 1,900 parents. Phenotypic data (growth and developmental domains for children and cognitive tests for parents) will also be collected. In South Africa, the team will also request participant consent to generate lymphoblastoid cell lines (LCLs) and induced pluripotent stem cells (iPSCs).

Blood samples, collected from all individuals in the study, will be deposited in the National Institute of Mental Health Repository and Genomic Resource (NIMH-RGR) housed at RUCDR Infinite Biologics (formerly Rutgers University Cell and DNA Repository). DNA extracted from a small portion of the whole blood at NIMH-RGR will be processed for DNA sequencing at the Broad Institute. The remaining whole blood will be stored at the NIMH-RGR and will be available to the scientific community for approved research use.

For those in Cape Town consenting to LCL and iPSC generation, cryopreserved lymphocytes will be produced at South Africa’s National Health Laboratory System, located in Tygerberg Hospital, Stellenbosch, and sent to RUCDR for the development of LCLs. Subject to available funding, some cryopreserved lymphocyte samples will be used to create induced pluripotent stem cells (iPSCs). LCLs and iPSCs will be stored at the NIMH-RGR biorepository and made available to the global scientific community, including researchers from the University of Cape Town.

Immediate analyses of the core genetic and phenotypic data will be led by the NeuroDev investigative group. This data will be made publicly available to the scientific community through controlled access databases, such as the Database of Genotypes and Phenotypes (dbGaP) hosted by the U.S. National Institutes of Health. Summary data and photos will be available through open-access platforms.

References Menil V. et al. Neuron 101, 15-19 (2019) PubMed
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